ERC2 (ELKS/RAB6-interacting/CAST family member 2) - Rat Genome Database

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Gene: ERC2 (ELKS/RAB6-interacting/CAST family member 2) Homo sapiens
Analyze
Symbol: ERC2
Name: ELKS/RAB6-interacting/CAST family member 2
RGD ID: 1607056
HGNC Page HGNC:31922
Description: Predicted to be a structural constituent of presynaptic active zone. Predicted to be involved in maintenance of presynaptic active zone structure. Predicted to be located in Golgi-associated vesicle; growth cone; and presynaptic membrane. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and presynaptic active zone cytoplasmic component.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CAST; CAST1; CAZ-associated structural protein; cytomatrix protein p110; ELKSL; ERC protein 2; KIAA0378; MGC133063; MGC133064; SPBC110; Spc110
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38355,508,311 - 56,468,467 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl355,508,311 - 56,469,095 (-)EnsemblGRCh38hg38GRCh38
GRCh37355,542,339 - 56,502,495 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36355,517,376 - 56,477,431 (-)NCBINCBI36Build 36hg18NCBI36
Celera355,509,269 - 56,468,649 (-)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef355,591,133 - 56,551,243 (-)NCBIHuRef
CHM1_1355,493,671 - 56,453,566 (-)NCBICHM1_1
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dimethoxyphenol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
allethrin  (ISO)
amitrole  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
cisplatin  (ISO)
cyhalothrin  (ISO)
cypermethrin  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
fonofos  (EXP)
furfural  (EXP)
iron dichloride  (EXP)
lipopolysaccharide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
mitomycin C  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-nitrosomorpholine  (ISO)
paracetamol  (EXP)
parathion  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
propiconazole  (ISO)
pyrethrins  (ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
serpentine asbestos  (EXP)
sodium arsenite  (EXP)
sodium chloride  (EXP)
sulfadimethoxine  (ISO)
terbufos  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:9205841   PMID:12163476   PMID:12168954   PMID:12391317   PMID:12477932   PMID:12923177   PMID:14723704   PMID:14734538   PMID:15090600   PMID:15217342   PMID:15489334   PMID:15728193  
PMID:17903296   PMID:18519826   PMID:20195357   PMID:20201926   PMID:20379614   PMID:21057379   PMID:21565611   PMID:21873635   PMID:22076464   PMID:22939629   PMID:24024966   PMID:26186194  
PMID:26496610   PMID:28514442   PMID:29121065   PMID:29180619   PMID:29426014   PMID:30021884   PMID:31343991   PMID:31671734   PMID:33306668   PMID:33660365   PMID:33961781   PMID:34079125  
PMID:34349018   PMID:34790172   PMID:34795231   PMID:35575683   PMID:35914814   PMID:35915203   PMID:36724073   PMID:38334954   PMID:38580884  


Genomics

Comparative Map Data
ERC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38355,508,311 - 56,468,467 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl355,508,311 - 56,469,095 (-)EnsemblGRCh38hg38GRCh38
GRCh37355,542,339 - 56,502,495 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36355,517,376 - 56,477,431 (-)NCBINCBI36Build 36hg18NCBI36
Celera355,509,269 - 56,468,649 (-)NCBICelera
Cytogenetic Map3p14.3NCBI
HuRef355,591,133 - 56,551,243 (-)NCBIHuRef
CHM1_1355,493,671 - 56,453,566 (-)NCBICHM1_1
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBIT2T-CHM13v2.0
Erc2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391427,344,232 - 28,200,494 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1427,344,385 - 28,200,494 (+)EnsemblGRCm39 Ensembl
GRCm381427,622,275 - 28,478,537 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1427,622,428 - 28,478,537 (+)EnsemblGRCm38mm10GRCm38
MGSCv371428,435,628 - 29,291,723 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361426,449,326 - 27,305,403 (+)NCBIMGSCv36mm8
Celera1423,854,528 - 24,727,160 (+)NCBICelera
Cytogenetic Map14A3NCBI
cM Map1416.51NCBI
Erc2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8162,819,399 - 3,680,258 (+)NCBIGRCr8
mRatBN7.2162,812,712 - 3,673,624 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl162,848,620 - 3,670,776 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx162,819,340 - 3,680,212 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0163,965,020 - 4,825,629 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0162,824,168 - 3,685,138 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0163,258,580 - 4,283,592 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl163,293,599 - 3,679,222 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0163,260,419 - 4,388,774 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4162,932,781 - 3,596,299 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1162,932,780 - 3,596,297 (+)NCBI
Celera162,811,369 - 3,459,316 (+)NCBICelera
Cytogenetic Map16p16NCBI
Erc2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554305,513,662 - 6,308,882 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554305,345,191 - 6,308,909 (-)NCBIChiLan1.0ChiLan1.0
ERC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2255,491,457 - 56,468,006 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1355,496,228 - 56,472,777 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0355,438,875 - 56,417,072 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1356,659,377 - 57,599,384 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl356,836,941 - 57,599,248 (-)Ensemblpanpan1.1panPan2
ERC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12033,842,753 - 34,748,038 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2033,842,753 - 34,746,491 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2033,769,262 - 34,672,553 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02034,114,565 - 35,020,292 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2034,114,216 - 35,020,299 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12033,558,663 - 34,463,362 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02033,918,155 - 34,823,551 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02034,092,812 - 35,039,347 (+)NCBIUU_Cfam_GSD_1.0
Erc2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118172,937,212 - 173,811,690 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364736,075,769 - 6,950,263 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364736,075,811 - 6,532,671 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ERC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1337,388,517 - 38,367,504 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11337,388,513 - 38,367,512 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21341,281,049 - 41,624,117 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ERC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12216,851,862 - 17,817,504 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2217,034,445 - 17,817,522 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041149,054,724 - 150,028,608 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Erc2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624822756,550 - 1,807,175 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624822756,532 - 1,806,129 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ERC2
92 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1 copy number loss See cases [RCV000051081] Chr3:54045018..66060461 [GRCh38]
Chr3:54079045..66046136 [GRCh37]
Chr3:54054085..66021176 [NCBI36]
Chr3:3p21.1-14.1
pathogenic
GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1 copy number loss See cases [RCV000053929] Chr3:53287477..57025368 [GRCh38]
Chr3:53321495..57059396 [GRCh37]
Chr3:53296535..57034436 [NCBI36]
Chr3:3p21.1-14.3
uncertain significance
NM_015576.1(ERC2):c.2215G>A (p.Glu739Lys) single nucleotide variant Malignant melanoma [RCV000066158] Chr3:55992097 [GRCh38]
Chr3:56026125 [GRCh37]
Chr3:56001165 [NCBI36]
Chr3:3p14.3
not provided
NM_015576.3(ERC2):c.1832G>A (p.Arg611Lys) single nucleotide variant not specified [RCV004617844] Chr3:56010537 [GRCh38]
Chr3:56044565 [GRCh37]
Chr3:56019605 [NCBI36]
Chr3:3p14.3
uncertain significance|not provided
NM_015576.1(ERC2):c.1723G>A (p.Asp575Asn) single nucleotide variant Malignant melanoma [RCV000066160] Chr3:56018950 [GRCh38]
Chr3:56052978 [GRCh37]
Chr3:56028018 [NCBI36]
Chr3:3p14.3
not provided
NM_015576.1(ERC2):c.323G>A (p.Gly108Glu) single nucleotide variant Malignant melanoma [RCV000066161] Chr3:56434685 [GRCh38]
Chr3:56468713 [GRCh37]
Chr3:56443753 [NCBI36]
Chr3:3p14.3
not provided
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2
pathogenic
NM_015576.1(ERC2):c.2564+75785T>G single nucleotide variant Lung cancer [RCV000093599] Chr3:55812604 [GRCh38]
Chr3:55846632 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.1(ERC2):c.2403+7926C>T single nucleotide variant Lung cancer [RCV000093601] Chr3:55942499 [GRCh38]
Chr3:55976527 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p14.3(chr3:55745130-55817929)x3 copy number gain See cases [RCV000448550] Chr3:55745130..55817929 [GRCh37]
Chr3:3p14.3
benign
GRCh37/hg19 3p14.3(chr3:56206624-56275029)x1 copy number loss not provided [RCV001005437] Chr3:56206624..56275029 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29
pathogenic
GRCh37/hg19 3p14.3(chr3:55769985-55860526)x3 copy number gain not provided [RCV000742415] Chr3:55769985..55860526 [GRCh37]
Chr3:3p14.3
benign
NM_015576.3(ERC2):c.313G>T (p.Ala105Ser) single nucleotide variant not specified [RCV004304156] Chr3:56434695 [GRCh38]
Chr3:56468723 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2840C>T (p.Pro947Leu) single nucleotide variant not specified [RCV004236657] Chr3:55699385 [GRCh38]
Chr3:55733413 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p14.3(chr3:56310834-56652900)x3 copy number gain not provided [RCV000846895] Chr3:56310834..56652900 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.59G>A (p.Arg20His) single nucleotide variant not specified [RCV004207781] Chr3:56434949 [GRCh38]
Chr3:56468977 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2152G>A (p.Glu718Lys) single nucleotide variant not specified [RCV004152226] Chr3:55992160 [GRCh38]
Chr3:56026188 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.1796G>A (p.Arg599His) single nucleotide variant not specified [RCV004167768] Chr3:56010573 [GRCh38]
Chr3:56044601 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.394C>A (p.His132Asn) single nucleotide variant not specified [RCV004148051] Chr3:56434614 [GRCh38]
Chr3:56468642 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.752C>T (p.Ala251Val) single nucleotide variant not specified [RCV004104375] Chr3:56296341 [GRCh38]
Chr3:56330369 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2525T>G (p.Ile842Ser) single nucleotide variant not specified [RCV004115577] Chr3:55888428 [GRCh38]
Chr3:55922456 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.1849T>A (p.Ser617Thr) single nucleotide variant not specified [RCV004150272] Chr3:56010520 [GRCh38]
Chr3:56044548 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2405T>C (p.Ile802Thr) single nucleotide variant not specified [RCV004078684] Chr3:55888548 [GRCh38]
Chr3:55922576 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2028G>T (p.Glu676Asp) single nucleotide variant not specified [RCV004168010] Chr3:56007214 [GRCh38]
Chr3:56041242 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.1322A>G (p.Gln441Arg) single nucleotide variant not specified [RCV004124351] Chr3:56139660 [GRCh38]
Chr3:56173688 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.854A>T (p.Glu285Val) single nucleotide variant not specified [RCV004166919] Chr3:56296239 [GRCh38]
Chr3:56330267 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.290C>T (p.Ala97Val) single nucleotide variant not specified [RCV004617842] Chr3:56434718 [GRCh38]
Chr3:56468746 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2396A>C (p.His799Pro) single nucleotide variant not specified [RCV004075033] Chr3:55950432 [GRCh38]
Chr3:55984460 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2122C>T (p.Leu708Phe) single nucleotide variant not specified [RCV004182475] Chr3:55992190 [GRCh38]
Chr3:56026218 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.263G>A (p.Arg88Gln) single nucleotide variant not specified [RCV004128417] Chr3:56434745 [GRCh38]
Chr3:56468773 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2525T>C (p.Ile842Thr) single nucleotide variant not specified [RCV004172343] Chr3:55888428 [GRCh38]
Chr3:55922456 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.1066C>A (p.Leu356Ile) single nucleotide variant not specified [RCV004132770] Chr3:56296027 [GRCh38]
Chr3:56330055 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2125G>A (p.Asp709Asn) single nucleotide variant not specified [RCV004261258] Chr3:55992187 [GRCh38]
Chr3:56026215 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.1721C>T (p.Thr574Met) single nucleotide variant not specified [RCV004264187] Chr3:56018952 [GRCh38]
Chr3:56052980 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2089A>G (p.Met697Val) single nucleotide variant not specified [RCV004278633] Chr3:55992223 [GRCh38]
Chr3:56026251 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.407C>T (p.Pro136Leu) single nucleotide variant not specified [RCV004272866] Chr3:56434601 [GRCh38]
Chr3:56468629 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.296G>T (p.Gly99Val) single nucleotide variant not specified [RCV004363322] Chr3:56434712 [GRCh38]
Chr3:56468740 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.1588A>G (p.Met530Val) single nucleotide variant not specified [RCV004346763] Chr3:56080870 [GRCh38]
Chr3:56114898 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p14.3(chr3:56258725-57386154)x1 copy number loss not provided [RCV003485388] Chr3:56258725..57386154 [GRCh37]
Chr3:3p14.3
uncertain significance
GRCh37/hg19 3p14.3(chr3:56317848-56658135)x3 copy number gain not provided [RCV003484132] Chr3:56317848..56658135 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.1245C>T (p.Arg415=) single nucleotide variant not provided [RCV003437878] Chr3:56149037 [GRCh38]
Chr3:56183065 [GRCh37]
Chr3:3p14.3
likely benign
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2
pathogenic
NM_015576.3(ERC2):c.1826G>A (p.Arg609Gln) single nucleotide variant not specified [RCV004380513] Chr3:56010543 [GRCh38]
Chr3:56044571 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.1861G>C (p.Glu621Gln) single nucleotide variant not specified [RCV004380514] Chr3:56010508 [GRCh38]
Chr3:56044536 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2245G>A (p.Glu749Lys) single nucleotide variant not specified [RCV004380515] Chr3:55992067 [GRCh38]
Chr3:56026095 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.986C>T (p.Thr329Met) single nucleotide variant not specified [RCV004380517] Chr3:56296107 [GRCh38]
Chr3:56330135 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.995T>G (p.Met332Arg) single nucleotide variant not specified [RCV004380518] Chr3:56296098 [GRCh38]
Chr3:56330126 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.1326A>C (p.Glu442Asp) single nucleotide variant not specified [RCV004380512] Chr3:56139656 [GRCh38]
Chr3:56173684 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2562G>A (p.Met854Ile) single nucleotide variant not specified [RCV004617845] Chr3:55888391 [GRCh38]
Chr3:55922419 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2675G>A (p.Arg892Gln) single nucleotide variant not specified [RCV004617843] Chr3:55734808 [GRCh38]
Chr3:55768836 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2151C>G (p.Asp717Glu) single nucleotide variant not specified [RCV004617846] Chr3:55992161 [GRCh38]
Chr3:56026189 [GRCh37]
Chr3:3p14.3
uncertain significance
NM_015576.3(ERC2):c.2447T>A (p.Leu816Gln) single nucleotide variant not specified [RCV004617847] Chr3:55888506 [GRCh38]
Chr3:55922534 [GRCh37]
Chr3:3p14.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2965
Count of miRNA genes:1165
Interacting mature miRNAs:1449
Transcripts:ENST00000288221, ENST00000460849, ENST00000466358, ENST00000468118, ENST00000469720, ENST00000472917, ENST00000473469, ENST00000477381, ENST00000484530, ENST00000484857, ENST00000486496, ENST00000487287, ENST00000492584
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407052099GWAS701075_Htriacylglycerol 46:0 measurement QTL GWAS701075 (human)0.0000002blood triglyceride amount (VT:0002644)35619389456193895Human
597318296GWAS1414370_HHernia QTL GWAS1414370 (human)7e-12Hernia35610781556107816Human
596987030GWAS1106549_Hbody mass index QTL GWAS1106549 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)35608083356080834Human
407028549GWAS677525_Hmental or behavioural disorder QTL GWAS677525 (human)0.000006mental or behavioural disorder35553773255537733Human
597325469GWAS1421543_HFEV/FVC ratio QTL GWAS1421543 (human)1e-09FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)35574874155748742Human
597171089GWAS1267163_HQRS-T angle QTL GWAS1267163 (human)3e-09heart excitatory physiology trait (VT:0000231)35590775355907754Human
597346195GWAS1442269_Halcohol use disorder measurement QTL GWAS1442269 (human)3e-09alcohol use disorder measurement35592276755922768Human
597134748GWAS1230822_Hbody height QTL GWAS1230822 (human)5e-12body height (VT:0001253)body height (CMO:0000106)35631636756316368Human
597098905GWAS1194979_Hbody height QTL GWAS1194979 (human)3e-08body height (VT:0001253)body height (CMO:0000106)35621537056215371Human
597338505GWAS1434579_Hcannabis dependence QTL GWAS1434579 (human)2e-08cannabis dependence35593316555933166Human
597190030GWAS1286104_Hpresubiculum volume QTL GWAS1286104 (human)3e-10cortical thickness35551977755519778Human
597249921GWAS1345995_HInguinal hernia QTL GWAS1345995 (human)1e-08Inguinal hernia35612953256129533Human
597249920GWAS1345994_HInguinal hernia QTL GWAS1345994 (human)3e-08Inguinal hernia35611546456115465Human
597249922GWAS1345996_HInguinal hernia QTL GWAS1345996 (human)3e-08Inguinal hernia35614685956146860Human
407047768GWAS696744_Htriacylglycerol 50:3 measurement QTL GWAS696744 (human)0.000005blood triglyceride amount (VT:0002644)35619389456193895Human
597129098GWAS1225172_Hcortical surface area measurement QTL GWAS1225172 (human)3e-10cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)35605910456059105Human
597076104GWAS1172178_Hheel bone mineral density QTL GWAS1172178 (human)0.000001heel bone mineral densitybone mineral density (CMO:0001226)35613593756135938Human
597108617GWAS1204691_Hintertrochanteric region size QTL GWAS1204691 (human)3e-11intertrochanteric region sizefemur morphological measurement (CMO:0001377)35619130156191302Human
406892128GWAS541104_Hcircadian rhythm QTL GWAS541104 (human)0.000002circadian rhythm35594838855948389Human
596953270GWAS1072789_Hheel bone mineral density QTL GWAS1072789 (human)4e-44heel bone mineral densitybone mineral density (CMO:0001226)35613593756135938Human
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
597290941GWAS1387015_Hhandedness QTL GWAS1387015 (human)3e-08handedness35605239656052397Human
597108401GWAS1204475_Htrochanter size QTL GWAS1204475 (human)0.0000001trochanter sizefemur morphological measurement (CMO:0001377)35619130156191302Human
597303474GWAS1399548_Hbrain measurement QTL GWAS1399548 (human)4e-16brain measurementbrain measurement (CMO:0000911)35568446255684463Human
597141694GWAS1237768_HInguinal hernia QTL GWAS1237768 (human)3e-12Inguinal hernia35555842655558427Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
597225650GWAS1321724_Hsmoking status measurement QTL GWAS1321724 (human)5e-09smoking status measurement35595436655954367Human
597137085GWAS1233159_Hsmoking initiation QTL GWAS1233159 (human)7e-10smoking initiation35598075355980754Human
597075896GWAS1171970_Hheel bone mineral density QTL GWAS1171970 (human)5e-09heel bone mineral densitybone mineral density (CMO:0001226)35613593756135938Human
596953019GWAS1072538_Hbone density QTL GWAS1072538 (human)1e-11bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)35613593756135938Human
597075897GWAS1171971_Hheel bone mineral density QTL GWAS1171971 (human)6e-08heel bone mineral densitybone mineral density (CMO:0001226)35615885656158857Human
596983719GWAS1103238_Hmemory performance, sex interaction measurement QTL GWAS1103238 (human)0.000001memory performance, sex interaction measurement35590038755900388Human
597178016GWAS1274090_Hsmoking initiation QTL GWAS1274090 (human)4e-21smoking initiation35608083356080834Human
597326240GWAS1422314_HFEV/FVC ratio QTL GWAS1422314 (human)8e-14FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)35620137656201377Human
597038509GWAS1134583_Hgut microbiome measurement QTL GWAS1134583 (human)0.000001gut microbiome measurement35554481855544819Human
407050872GWAS699848_Htriacylglycerol 46:1 measurement QTL GWAS699848 (human)0.000009blood triglyceride amount (VT:0002644)35619389456193895Human
597242021GWAS1338095_Hretinal vasculature measurement QTL GWAS1338095 (human)0.000008retina blood vessel morphology trait (VT:0002792)35584957355849574Human
597075626GWAS1171700_Hheel bone mineral density QTL GWAS1171700 (human)4e-14heel bone mineral densitybone mineral density (CMO:0001226)35613593756135938Human
597075627GWAS1171701_Hheel bone mineral density QTL GWAS1171701 (human)5e-16heel bone mineral densitybone mineral density (CMO:0001226)35615885656158857Human
597351130GWAS1447204_Hbody height QTL GWAS1447204 (human)3e-16body height (VT:0001253)body height (CMO:0000106)35567037355670374Human
597351131GWAS1447205_Hbody height QTL GWAS1447205 (human)1e-30body height (VT:0001253)body height (CMO:0000106)35582179255821793Human
597254363GWAS1350437_Hthalamus volume QTL GWAS1350437 (human)2e-10thalamus volumeboth kidneys wet weight as percentage of body weight (CMO:0000140)35551188655511887Human
597343454GWAS1439528_Hsmoking initiation QTL GWAS1439528 (human)1e-10smoking initiation35592276755922768Human
597351134GWAS1447208_Hbody height QTL GWAS1447208 (human)7e-23body height (VT:0001253)body height (CMO:0000106)35638846056388461Human
406967045GWAS616021_Hnighttime rest measurement QTL GWAS616021 (human)0.000005sleep behavior trait (VT:0001501)35640136756401368Human
597351132GWAS1447206_Hbody height QTL GWAS1447206 (human)6e-22body height (VT:0001253)body height (CMO:0000106)35622403356224034Human
597351133GWAS1447207_Hbody height QTL GWAS1447207 (human)6e-69body height (VT:0001253)body height (CMO:0000106)35623786156237862Human
407047433GWAS696409_Htriacylglycerol 50:2 measurement QTL GWAS696409 (human)0.000001blood triglyceride amount (VT:0002644)35619389456193895Human
597234644GWAS1330718_Hbrain measurement QTL GWAS1330718 (human)2e-08brain measurementbrain measurement (CMO:0000911)35624613556246136Human
597246408GWAS1342482_Hplatelet-to-lymphocyte ratio QTL GWAS1342482 (human)5e-08platelet-to-lymphocyte ratio35621323556213236Human
597285322GWAS1381396_HBMI-adjusted hip circumference QTL GWAS1381396 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)35555796755557968Human
597291981GWAS1388055_Hbone density QTL GWAS1388055 (human)1e-11bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)35613593756135938Human
597206989GWAS1303063_Hmajor depressive disorder QTL GWAS1303063 (human)0.0000002major depressive disorder35619201356192014Human
597342927GWAS1439001_Hfemoral neck size QTL GWAS1439001 (human)3e-08femoral neck sizefemoral neck morphological measurement (CMO:0001672)35638583856385839Human
597313997GWAS1410071_Hcortical surface area measurement QTL GWAS1410071 (human)2e-09cerebral cortex morphology trait (VT:0000788)tibia-fibula cortical bone total cross-sectional area (CMO:0001721)35568446255684463Human
597134784GWAS1230858_Hmemory performance, sex interaction measurement QTL GWAS1230858 (human)0.000001memory performance, sex interaction measurement35590038755900388Human
597143759GWAS1239833_Hchronic obstructive pulmonary disease QTL GWAS1239833 (human)2e-11lung integrity trait (VT:0010906)35555842655558427Human
406998554GWAS647530_Hunipolar depression QTL GWAS647530 (human)0.0000002unipolar depression35619201356192014Human
407162653GWAS811629_HFEV/FVC ratio, response to bronchodilator QTL GWAS811629 (human)0.0000003FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)35574891355748914Human
597329351GWAS1425425_Hresponse to angiotensin-converting enzyme inhibitor QTL GWAS1425425 (human)0.000003response to angiotensin-converting enzyme inhibitor35583180755831808Human
597139144GWAS1235218_HInguinal hernia QTL GWAS1235218 (human)1e-14Inguinal hernia35610522256105223Human
597225720GWAS1321794_Helectrocardiography QTL GWAS1321794 (human)8e-09electrocardiography35590144255901443Human
597225721GWAS1321795_Helectrocardiography QTL GWAS1321795 (human)6e-09electrocardiography35590144255901443Human
596972020GWAS1091539_Hmajor depressive disorder QTL GWAS1091539 (human)0.0000002major depressive disorder35619201356192014Human
597137140GWAS1233214_Hneuroimaging measurement QTL GWAS1233214 (human)5e-10neuroimaging measurement35551977755519778Human
597331964GWAS1428038_Hsmoking initiation QTL GWAS1428038 (human)3e-12smoking initiation35594017655940177Human
597193972GWAS1290046_Hsleep duration QTL GWAS1290046 (human)2e-09sleep duration35584524155845242Human
597225719GWAS1321793_Helectrocardiography QTL GWAS1321793 (human)2e-08electrocardiography35590144255901443Human
597246697GWAS1342771_HInguinal hernia QTL GWAS1342771 (human)2e-11Inguinal hernia35556880055568801Human
597246699GWAS1342773_HInguinal hernia QTL GWAS1342773 (human)3e-10Inguinal hernia35557133355571334Human
597246698GWAS1342772_HInguinal hernia QTL GWAS1342772 (human)1e-11Inguinal hernia35557104055571041Human
597246701GWAS1342775_HInguinal hernia QTL GWAS1342775 (human)4e-10Inguinal hernia35557865055578651Human
597246700GWAS1342774_HInguinal hernia QTL GWAS1342774 (human)7e-10Inguinal hernia35557244855572449Human
597298156GWAS1394230_Hbody height QTL GWAS1394230 (human)2e-15body height (VT:0001253)body height (CMO:0000106)35623786156237862Human
407009592GWAS658568_Hparental longevity QTL GWAS658568 (human)0.000009total life span (VT:0001661)35634937656349377Human
597136876GWAS1232950_Hneuroimaging measurement QTL GWAS1232950 (human)5e-09neuroimaging measurement35601493956014940Human
597256930GWAS1353004_HAlzheimer disease, gastroesophageal reflux disease QTL GWAS1353004 (human)0.0000003Alzheimer disease, gastroesophageal reflux disease35608083356080834Human
596973806GWAS1093325_Hmajor depressive disorder QTL GWAS1093325 (human)8e-08major depressive disorder35624895056248951Human
597035498GWAS1131572_Hgut microbiome measurement QTL GWAS1131572 (human)0.000002gut microbiome measurement35554481855544819Human
597175012GWAS1271086_Hbody mass index QTL GWAS1271086 (human)4e-12body mass indexbody mass index (BMI) (CMO:0000105)35608083356080834Human
596975081GWAS1094600_Hbody height QTL GWAS1094600 (human)2e-15body height (VT:0001253)body height (CMO:0000106)35623786156237862Human
597250279GWAS1346353_Hdementia QTL GWAS1346353 (human)0.000002dementia35570427255704273Human
597246489GWAS1342563_HInguinal hernia QTL GWAS1342563 (human)9e-11Inguinal hernia35555997355559974Human
597246488GWAS1342562_HInguinal hernia QTL GWAS1342562 (human)6e-11Inguinal hernia35555842655558427Human
597186585GWAS1282659_Hpeak expiratory flow QTL GWAS1282659 (human)5e-08peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)35628142456281425Human
597089300GWAS1185374_Hbrain measurement, neuroimaging measurement QTL GWAS1185374 (human)4e-09brain measurement, neuroimaging measurementbrain measurement (CMO:0000911)35551977755519778Human
407042752GWAS691728_Hperiodontitis QTL GWAS691728 (human)0.000004periodontitis35552931655529317Human
597246491GWAS1342565_HInguinal hernia QTL GWAS1342565 (human)7e-11Inguinal hernia35556599155565992Human
597246490GWAS1342564_HInguinal hernia QTL GWAS1342564 (human)2e-10Inguinal hernia35556288855562889Human
597034005GWAS1130079_Hbody height QTL GWAS1130079 (human)3e-10body height (VT:0001253)body height (CMO:0000106)35624218556242186Human
597246493GWAS1342567_HInguinal hernia QTL GWAS1342567 (human)4e-12Inguinal hernia35556810955568110Human
597246492GWAS1342566_HInguinal hernia QTL GWAS1342566 (human)2e-10Inguinal hernia35556651855566519Human
597353759GWAS1449833_Hbody height QTL GWAS1449833 (human)1e-15body height (VT:0001253)body height (CMO:0000106)35638035956380360Human
597321244GWAS1417318_HInguinal hernia QTL GWAS1417318 (human)1e-10Inguinal hernia35556810955568110Human
597321245GWAS1417319_HInguinal hernia QTL GWAS1417319 (human)9e-12Inguinal hernia35610781556107816Human
597246485GWAS1342559_HInguinal hernia QTL GWAS1342559 (human)1e-10Inguinal hernia35555136855551369Human
597246484GWAS1342558_HInguinal hernia QTL GWAS1342558 (human)2e-10Inguinal hernia35555112555551126Human
597246487GWAS1342561_HInguinal hernia QTL GWAS1342561 (human)1e-10Inguinal hernia35555796755557968Human
597076505GWAS1172579_Hlobe attachment QTL GWAS1172579 (human)2e-23lobe attachmentear measurement (CMO:0002667)35552135755521358Human
597246486GWAS1342560_HInguinal hernia QTL GWAS1342560 (human)5e-09Inguinal hernia35555577655555777Human
597532178GWAS1628252_Hhip geometry QTL GWAS1628252 (human)2e-08hip geometryhip circumference (CMO:0000014)35624590056245901Human
597324814GWAS1420888_Hthioredoxin domain-containing protein 12 measurement QTL GWAS1420888 (human)1e-13thioredoxin domain-containing protein 12 measurement35566339755663398Human
597274127GWAS1370201_Hdiaphragmatic hernia QTL GWAS1370201 (human)2e-08diaphragmatic hernia35598199255981993Human
597300237GWAS1396311_Hbody mass index QTL GWAS1396311 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)35608083356080834Human
597178368GWAS1274442_HQRS-T angle QTL GWAS1274442 (human)9e-09heart excitatory physiology trait (VT:0000231)35590775355907754Human
597092623GWAS1188697_Hcircadian rhythm QTL GWAS1188697 (human)3e-08circadian rhythm35590091155900912Human
597133069GWAS1229143_Hmemory performance, sex interaction measurement QTL GWAS1229143 (human)0.000003memory performance, sex interaction measurement35590038755900388Human
597219587GWAS1315661_Hplatelet count QTL GWAS1315661 (human)1e-11platelet quantity (VT:0003179)platelet count (CMO:0000029)35622189256221893Human
406982111GWAS631087_Hheel bone mineral density QTL GWAS631087 (human)6e-09heel bone mineral densitybone mineral density (CMO:0001226)35555577655555777Human
596982280GWAS1101799_Hmemory performance, sex interaction measurement QTL GWAS1101799 (human)0.000003memory performance, sex interaction measurement35590038755900388Human
597277446GWAS1373520_HAlzheimer disease, polygenic risk score QTL GWAS1373520 (human)2e-08Alzheimer disease, polygenic risk score35591838755918388Human
596951092GWAS1070611_Hdementia QTL GWAS1070611 (human)0.000002dementia35570427255704273Human
597312056GWAS1408130_Hurinary uromodulin measurement QTL GWAS1408130 (human)0.000002urinary uromodulin measurement35576877455768775Human
406982112GWAS631088_Hheel bone mineral density QTL GWAS631088 (human)3e-51heel bone mineral densitybone mineral density (CMO:0001226)35613593756135938Human
406968551GWAS617527_Hdaytime rest measurement QTL GWAS617527 (human)0.000002sleep behavior trait (VT:0001501)35597878455978785Human
597031997GWAS1128071_Hbody mass index QTL GWAS1128071 (human)3e-10body mass indexbody mass index (BMI) (CMO:0000105)35608083356080834Human
597087551GWAS1183625_Hneuroimaging measurement, brain volume measurement QTL GWAS1183625 (human)3e-08neuroimaging measurement, brain volume measurementbrain morphological measurement (CMO:0000136)35551977755519778Human
597345584GWAS1441658_Hcannabis dependence QTL GWAS1441658 (human)8e-10cannabis dependence35592276755922768Human
597277491GWAS1373565_Hdiet measurement QTL GWAS1373565 (human)2e-08diet measurementfood intake measurement (CMO:0000772)35601136156011362Human
1331643COPD16_HChronic obstructive pulmonary disease QTL 16 (human)1.07Chronic airflow obstructionpost-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 10034938065175380651Human
597069860GWAS1165934_Hresponse to tenofovir, creatinine clearance measurement QTL GWAS1165934 (human)0.000003response to tenofovir, creatinine clearance measurementcreatinine clearance (CMO:0000765)35591610155916102Human
597272363GWAS1368437_Hschizophrenia QTL GWAS1368437 (human)0.000003schizophrenia35623624456236245Human
597185835GWAS1281909_Hmajor depressive disorder QTL GWAS1281909 (human)8e-08major depressive disorder35624895056248951Human
597305903GWAS1401977_HFebrile seizure (within the age range of 3 months to 6 years) QTL GWAS1401977 (human)2e-13Febrile seizure (within the age range of 3 months to 6 years)35626411056264111Human
597020450GWAS1116524_Hsensory perception of smell QTL GWAS1116524 (human)0.000001sensory perception of smell35592018755920188Human
407058938GWAS707914_Hsleep duration QTL GWAS707914 (human)5e-08sleep duration35584524155845242Human
597061676GWAS1157750_HFEV/FVC ratio QTL GWAS1157750 (human)6e-12FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)35574613855746139Human
597227042GWAS1323116_Hsmoking status measurement QTL GWAS1323116 (human)1e-10smoking status measurement35595436655954367Human
597061677GWAS1157751_HFEV/FVC ratio QTL GWAS1157751 (human)3e-19FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)35624895056248951Human
406942461GWAS591437_HTourette syndrome QTL GWAS591437 (human)0.000003Tourette syndrome35605887056058871Human
597061675GWAS1157749_HFEV/FVC ratio QTL GWAS1157749 (human)1e-10FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)35555112555551126Human
597134378GWAS1230452_Hmemory performance QTL GWAS1230452 (human)0.000005memory performance35590038755900388Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human
597212711GWAS1308785_Hheel bone mineral density QTL GWAS1308785 (human)3e-38heel bone mineral densitybone mineral density (CMO:0001226)35615885656158857Human
597109544GWAS1205618_Hhip bone size QTL GWAS1205618 (human)8e-14hip bone size35619130156191302Human
597237337GWAS1333411_Hbrain measurement QTL GWAS1333411 (human)4e-10brain measurementbrain measurement (CMO:0000911)35568446255684463Human
597219161GWAS1315235_Hplatelet count QTL GWAS1315235 (human)4e-18platelet quantity (VT:0003179)platelet count (CMO:0000029)35637423056374231Human
597249884GWAS1345958_Hlisteria seropositivity QTL GWAS1345958 (human)1e-08listeria seropositivity35555990355559904Human
597187923GWAS1283997_Hpeak expiratory flow QTL GWAS1283997 (human)1e-11peak expiratory flowmaximum mid-expiratory flow (MMEF) (CMO:0000253)35589582055895821Human
597258066GWAS1354140_Hdiastolic blood pressure QTL GWAS1354140 (human)0.0000006diastolic blood pressurediastolic blood pressure (CMO:0000005)35621279456212795Human
407051667GWAS700643_Htriacylglycerol 48:1 measurement QTL GWAS700643 (human)0.000004blood triglyceride amount (VT:0002644)35619389456193895Human
597228361GWAS1324435_Hheel bone mineral density QTL GWAS1324435 (human)7e-12heel bone mineral densitybone mineral density (CMO:0001226)35580632755806328Human
597228362GWAS1324436_Hheel bone mineral density QTL GWAS1324436 (human)5e-39heel bone mineral densitybone mineral density (CMO:0001226)35622950656229507Human
597060931GWAS1157005_Hvital capacity QTL GWAS1157005 (human)9e-11vital capacity35578422155784222Human
597163841GWAS1259915_HInguinal hernia QTL GWAS1259915 (human)5e-12Inguinal hernia35555136855551369Human
597075265GWAS1171339_Halcohol dependence measurement QTL GWAS1171339 (human)0.000009response to alcohol trait (VT:0010489)35615220856152209Human
407051672GWAS700648_Htriacylglycerol 48:2 measurement QTL GWAS700648 (human)0.000003blood triglyceride amount (VT:0002644)35619389456193895Human
407048863GWAS697839_Hacute lymphoblastic leukemia QTL GWAS697839 (human)0.000005leukocyte integrity trait (VT:0010898)35577322755773228Human
597124425GWAS1220499_Hattention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement QTL GWAS1220499 (human)6e-09attention deficit hyperactivity disorder, substance abuse, antisocial behaviour measurement35608083356080834Human
597277510GWAS1373584_Heye morphology measurement QTL GWAS1373584 (human)3e-09eye morphology measurementeye morphological measurement (CMO:0003080)35555577655555777Human
407049123GWAS698099_Hcholesteryl ester 14:0 measurement QTL GWAS698099 (human)0.000005diencephalon size trait (VT:0011083)35600695256006953Human
597202809GWAS1298883_Hgestational age QTL GWAS1298883 (human)0.000004gestational age35554562455545625Human
597249917GWAS1345991_HInguinal hernia QTL GWAS1345991 (human)1e-10Inguinal hernia35557926055579261Human
597245308GWAS1341382_Hprogression free survival, ovarian serous carcinoma QTL GWAS1341382 (human)0.000005progression free survival, ovarian serous carcinomasurvival measurement (CMO:0001021)35559288755592888Human
597249919GWAS1345993_HInguinal hernia QTL GWAS1345993 (human)1e-08Inguinal hernia35610781556107816Human
597033328GWAS1129402_Hheel bone mineral density QTL GWAS1129402 (human)9e-12heel bone mineral densitybone mineral density (CMO:0001226)35612238956122390Human
597531515GWAS1627589_Hhip geometry QTL GWAS1627589 (human)3e-25hip geometryhip circumference (CMO:0000014)35624500456245005Human
597257599GWAS1353673_HAlzheimer disease, gastroesophageal reflux disease QTL GWAS1353673 (human)0.000002Alzheimer disease, gastroesophageal reflux disease35633548156335482Human
597249918GWAS1345992_HInguinal hernia QTL GWAS1345992 (human)3e-08Inguinal hernia35610522256105223Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
597141115GWAS1237189_HInguinal hernia QTL GWAS1237189 (human)3e-15Inguinal hernia35610522256105223Human
597496177GWAS1592251_Hhip geometry QTL GWAS1592251 (human)1e-11hip geometryhip circumference (CMO:0000014)35623578256235783Human
407035310GWAS684286_Hunipolar depression QTL GWAS684286 (human)8e-08unipolar depression35624895056248951Human
597176183GWAS1272257_Hbody mass index QTL GWAS1272257 (human)1e-09body mass indexbody mass index (BMI) (CMO:0000105)35608083356080834Human
597135480GWAS1231554_Hbody height QTL GWAS1231554 (human)3e-14body height (VT:0001253)body height (CMO:0000106)35618935656189357Human
597497965GWAS1594039_Hhip geometry QTL GWAS1594039 (human)1e-21hip geometryhip circumference (CMO:0000014)35551674055516741Human
596956004GWAS1075523_Hhandedness QTL GWAS1075523 (human)3e-08handedness35605239656052397Human
597033319GWAS1129393_Hheel bone mineral density QTL GWAS1129393 (human)4e-44heel bone mineral densitybone mineral density (CMO:0001226)35613593756135938Human
597496168GWAS1592242_Hhip geometry QTL GWAS1592242 (human)0.0000004hip geometryhip circumference (CMO:0000014)35576698255766983Human
597184111GWAS1280185_Hfasting blood glucose measurement, response to metformin QTL GWAS1280185 (human)2e-09fasting blood glucose measurement, response to metforminblood glucose level (CMO:0000046)35588371755883718Human
597343853GWAS1439927_Hopioid use disorder QTL GWAS1439927 (human)2e-08conditioned place preference behavior trait (VT:0010723)35592276755922768Human
597033326GWAS1129400_Hheel bone mineral density QTL GWAS1129400 (human)2e-09heel bone mineral densitybone mineral density (CMO:0001226)35556645455566455Human
597092714GWAS1188788_Hcircadian rhythm QTL GWAS1188788 (human)0.000001circadian rhythm35590091155900912Human
597033320GWAS1129394_Hheel bone mineral density QTL GWAS1129394 (human)2e-29heel bone mineral densitybone mineral density (CMO:0001226)35622950656229507Human
596987498GWAS1107017_Hmemory performance QTL GWAS1107017 (human)0.000005memory performance35590038755900388Human

Markers in Region
D3S3621  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,318,898 - 56,319,127UniSTSGRCh37
Build 36356,293,938 - 56,294,167RGDNCBI36
Celera356,285,174 - 56,285,403RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,367,776 - 56,367,999UniSTS
Marshfield Genetic Map375.41UniSTS
Marshfield Genetic Map375.41RGD
Genethon Genetic Map374.1UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S3721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,884,833 - 55,885,037UniSTSGRCh37
Build 36355,859,873 - 55,860,077RGDNCBI36
Celera355,851,773 - 55,851,977RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,933,651 - 55,933,855UniSTS
Marshfield Genetic Map375.41RGD
Marshfield Genetic Map375.41UniSTS
Genethon Genetic Map373.4UniSTS
TNG Radiation Hybrid Map334647.0UniSTS
deCODE Assembly Map377.26UniSTS
GeneMap99-GB4 RH Map3184.63UniSTS
NCBI RH Map3513.4UniSTS
D3S1606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,644,440 - 55,644,679UniSTSGRCh37
Build 36355,619,480 - 55,619,719RGDNCBI36
Celera355,611,500 - 55,611,739RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,693,251 - 55,693,496UniSTS
Marshfield Genetic Map374.35UniSTS
Marshfield Genetic Map374.35RGD
Genethon Genetic Map372.9UniSTS
deCODE Assembly Map376.58UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S3588  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,085,827 - 56,085,976UniSTSGRCh37
Build 36356,060,867 - 56,061,016RGDNCBI36
Celera356,052,825 - 56,052,974RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,134,733 - 56,134,876UniSTS
Marshfield Genetic Map374.88RGD
Marshfield Genetic Map374.88UniSTS
Genethon Genetic Map373.5UniSTS
deCODE Assembly Map377.26UniSTS
Stanford-G3 RH Map32526.0UniSTS
NCBI RH Map3519.2UniSTS
GeneMap99-G3 RH Map32424.0UniSTS
D3S3048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,137,560 - 56,137,909UniSTSGRCh37
Build 36356,112,600 - 56,112,949RGDNCBI36
Celera356,104,561 - 56,104,910RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,186,464 - 56,186,813UniSTS
Marshfield Genetic Map375.41UniSTS
Marshfield Genetic Map375.41RGD
deCODE Assembly Map377.38UniSTS
Stanford-G3 RH Map32523.0UniSTS
Whitehead-RH Map3235.3UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3518.3UniSTS
D3S2408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,710,365 - 55,710,553UniSTSGRCh37
Build 36355,685,405 - 55,685,593RGDNCBI36
Celera355,677,419 - 55,677,607RGD
Cytogenetic Map3p21UniSTS
Cytogenetic Map3p14.3UniSTS
HuRef355,759,293 - 55,759,478UniSTS
Marshfield Genetic Map374.35RGD
Marshfield Genetic Map374.35UniSTS
deCODE Assembly Map376.58UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S3724  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,374,495 - 56,374,714UniSTSGRCh37
Build 36356,349,535 - 56,349,754RGDNCBI36
Celera356,340,756 - 56,340,979RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,423,341 - 56,423,564UniSTS
Marshfield Genetic Map375.41RGD
Marshfield Genetic Map375.41UniSTS
Genethon Genetic Map374.0UniSTS
TNG Radiation Hybrid Map334848.0UniSTS
deCODE Assembly Map377.5UniSTS
Stanford-G3 RH Map32559.0UniSTS
GeneMap99-GB4 RH Map3189.85UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3526.4UniSTS
GeneMap99-G3 RH Map32457.0UniSTS
D3S2972  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,288,341 - 56,288,518UniSTSGRCh37
Build 36356,263,381 - 56,263,558RGDNCBI36
Celera356,255,347 - 56,255,524RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,337,235 - 56,337,412UniSTS
Whitehead-YAC Contig Map3 UniSTS
SHGC-14182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,954,129 - 55,954,367UniSTSGRCh37
Build 36355,929,169 - 55,929,407RGDNCBI36
Celera355,921,075 - 55,921,313RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,002,954 - 56,003,192UniSTS
Stanford-G3 RH Map32538.0UniSTS
NCBI RH Map3521.9UniSTS
D3S3134  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,661,562 - 55,661,677UniSTSGRCh37
Build 36355,636,602 - 55,636,717RGDNCBI36
Celera355,628,616 - 55,628,731RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,710,482 - 55,710,597UniSTS
SHGC-83829  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,546,481 - 55,546,829UniSTSGRCh37
Build 36355,521,521 - 55,521,869RGDNCBI36
Celera355,513,414 - 55,513,762RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,595,278 - 55,595,626UniSTS
TNG Radiation Hybrid Map334466.0UniSTS
SHGC-83911  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,822,262 - 55,822,533UniSTSGRCh37
Build 36355,797,302 - 55,797,573RGDNCBI36
Celera355,789,279 - 55,789,550RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,871,097 - 55,871,368UniSTS
TNG Radiation Hybrid Map334712.0UniSTS
SHGC-83461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,235,165 - 56,235,484UniSTSGRCh37
Build 36356,210,205 - 56,210,524RGDNCBI36
Celera356,202,170 - 56,202,489RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,284,067 - 56,284,386UniSTS
TNG Radiation Hybrid Map334899.0UniSTS
SHGC-81231  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,829,248 - 55,829,566UniSTSGRCh37
Build 36355,804,288 - 55,804,606RGDNCBI36
Celera355,796,187 - 55,796,505RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,878,083 - 55,878,401UniSTS
TNG Radiation Hybrid Map334705.0UniSTS
RH122122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,665,300 - 55,665,579UniSTSGRCh37
Build 36355,640,340 - 55,640,619RGDNCBI36
Celera355,632,370 - 55,632,649RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,714,235 - 55,714,514UniSTS
TNG Radiation Hybrid Map334537.0UniSTS
G60580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,318,834 - 56,319,126UniSTSGRCh37
Build 36356,293,874 - 56,294,166RGDNCBI36
Celera356,285,110 - 56,285,402RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,367,712 - 56,367,998UniSTS
TNG Radiation Hybrid Map334832.0UniSTS
D3S1326E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,777,840 - 55,777,936UniSTSGRCh37
GRCh37355,777,913 - 55,778,068UniSTSGRCh37
Build 36355,752,880 - 55,752,976RGDNCBI36
Celera355,744,855 - 55,744,951RGD
Celera355,744,928 - 55,745,083UniSTS
Cytogenetic Map3p14.3UniSTS
HuRef355,826,683 - 55,826,779UniSTS
HuRef355,826,756 - 55,826,911UniSTS
TNG Radiation Hybrid Map334728.0UniSTS
Stanford-G3 RH Map32506.0UniSTS
GeneMap99-G3 RH Map32404.0UniSTS
D3S3279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,661,646 - 55,661,815UniSTSGRCh37
Build 36355,636,686 - 55,636,855RGDNCBI36
Celera355,628,700 - 55,628,869RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,710,566 - 55,710,735UniSTS
G66853  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,423,288 - 56,423,596UniSTSGRCh37
Build 36356,398,328 - 56,398,636RGDNCBI36
Celera356,389,550 - 56,389,858RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,472,139 - 56,472,447UniSTS
SHGC-111312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,330,795 - 56,331,122UniSTSGRCh37
Build 36356,305,835 - 56,306,162RGDNCBI36
Celera356,297,071 - 56,297,398RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,379,667 - 56,379,994UniSTS
TNG Radiation Hybrid Map334862.0UniSTS
SHGC-106543  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,911,977 - 55,912,282UniSTSGRCh37
Build 36355,887,017 - 55,887,322RGDNCBI36
Celera355,878,915 - 55,879,220RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,960,795 - 55,961,100UniSTS
TNG Radiation Hybrid Map334647.0UniSTS
SHGC-132265  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,137,848 - 56,137,960UniSTSGRCh37
Build 36356,112,888 - 56,113,000RGDNCBI36
Celera356,104,849 - 56,104,961RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,186,752 - 56,186,864UniSTS
TNG Radiation Hybrid Map334776.0UniSTS
SHGC-142673  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,237,055 - 56,237,381UniSTSGRCh37
Build 36356,212,095 - 56,212,421RGDNCBI36
Celera356,204,065 - 56,204,391RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,285,962 - 56,286,288UniSTS
TNG Radiation Hybrid Map334909.0UniSTS
SHGC-108160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,622,689 - 55,622,982UniSTSGRCh37
Build 36355,597,729 - 55,598,022RGDNCBI36
Celera355,589,744 - 55,590,037RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,671,496 - 55,671,789UniSTS
TNG Radiation Hybrid Map334513.0UniSTS
SHGC-146580  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,016,625 - 56,016,949UniSTSGRCh37
Build 36355,991,665 - 55,991,989RGDNCBI36
Celera355,983,572 - 55,983,896RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,065,450 - 56,065,774UniSTS
TNG Radiation Hybrid Map334614.0UniSTS
SHGC-147651  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,907,233 - 55,907,570UniSTSGRCh37
Build 36355,882,273 - 55,882,610RGDNCBI36
Celera355,874,173 - 55,874,510RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,956,051 - 55,956,388UniSTS
TNG Radiation Hybrid Map334647.0UniSTS
SHGC-148992  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,945,348 - 55,945,642UniSTSGRCh37
Build 36355,920,388 - 55,920,682RGDNCBI36
Celera355,912,293 - 55,912,587RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,994,172 - 55,994,466UniSTS
TNG Radiation Hybrid Map334595.0UniSTS
SHGC-149061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,016,307 - 56,016,647UniSTSGRCh37
Build 36355,991,347 - 55,991,687RGDNCBI36
Celera355,983,254 - 55,983,594RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,065,132 - 56,065,472UniSTS
TNG Radiation Hybrid Map334620.0UniSTS
SHGC-152756  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,085,913 - 56,086,104UniSTSGRCh37
Build 36356,060,953 - 56,061,144RGDNCBI36
Celera356,052,911 - 56,053,102RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,134,813 - 56,135,004UniSTS
TNG Radiation Hybrid Map196051.0UniSTS
SHGC-152190  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,644,438 - 55,644,577UniSTSGRCh37
GRCh37355,644,438 - 55,644,555UniSTSGRCh37
GRCh37355,644,438 - 55,644,557UniSTSGRCh37
Build 36355,619,478 - 55,619,595RGDNCBI36
Celera355,611,498 - 55,611,617UniSTS
Celera355,611,498 - 55,611,615RGD
Celera355,611,498 - 55,611,637UniSTS
Cytogenetic Map3p14.3UniSTS
HuRef355,693,249 - 55,693,368UniSTS
HuRef355,693,249 - 55,693,390UniSTS
HuRef355,693,249 - 55,693,394UniSTS
HuRef355,693,249 - 55,693,388UniSTS
TNG Radiation Hybrid Map1640562.0UniSTS
SHGC-79620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,633,472 - 55,633,756UniSTSGRCh37
Build 36355,608,512 - 55,608,796RGDNCBI36
Celera355,600,531 - 55,600,815RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,682,282 - 55,682,566UniSTS
TNG Radiation Hybrid Map334523.0UniSTS
NIB681  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,542,370 - 55,542,519UniSTSGRCh37
Build 36355,517,410 - 55,517,559RGDNCBI36
Celera355,509,303 - 55,509,452RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,591,167 - 55,591,316UniSTS
GeneMap99-GB4 RH Map3184.63UniSTS
Whitehead-RH Map3236.5UniSTS
NCBI RH Map3513.4UniSTS
AFMA338XC5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,747,037 - 55,747,308UniSTSGRCh37
Build 36355,722,077 - 55,722,348RGDNCBI36
Celera355,714,070 - 55,714,341RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,795,946 - 55,796,217UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S2493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,808,321 - 55,808,500UniSTSGRCh37
Build 36355,783,361 - 55,783,540RGDNCBI36
Celera355,775,330 - 55,775,509RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,857,148 - 55,857,327UniSTS
Whitehead-YAC Contig Map3 UniSTS
RH18386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,543,860 - 55,544,094UniSTSGRCh37
Build 36355,518,900 - 55,519,134RGDNCBI36
Celera355,510,793 - 55,511,027RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,592,657 - 55,592,891UniSTS
GeneMap99-GB4 RH Map3184.63UniSTS
NCBI RH Map3513.4UniSTS
D3S3115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,542,343 - 55,542,593UniSTSGRCh37
Build 36355,517,383 - 55,517,633RGDNCBI36
Celera355,509,276 - 55,509,526RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,591,140 - 55,591,390UniSTS
GeneMap99-GB4 RH Map3189.12UniSTS
Whitehead-RH Map3218.0UniSTS
Whitehead-YAC Contig Map3 UniSTS
NCBI RH Map3515.6UniSTS
D3S1332E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,725,731 - 55,725,912UniSTSGRCh37
Build 36355,700,771 - 55,700,952RGDNCBI36
Celera355,692,768 - 55,692,949RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,774,641 - 55,774,822UniSTS
TNG Radiation Hybrid Map334552.0UniSTS
Stanford-G3 RH Map32509.0UniSTS
NCBI RH Map3512.6UniSTS
GeneMap99-G3 RH Map32407.0UniSTS
D3S2976  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,692,987 - 55,693,211UniSTSGRCh37
Build 36355,668,027 - 55,668,251RGDNCBI36
Celera355,660,050 - 55,660,274RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,741,917 - 55,742,141UniSTS
Whitehead-YAC Contig Map3 UniSTS
D3S4007  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,338,169 - 56,338,353UniSTSGRCh37
Build 36356,313,209 - 56,313,393RGDNCBI36
Celera356,304,445 - 56,304,629RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,387,025 - 56,387,209UniSTS
Whitehead-YAC Contig Map3 UniSTS
STS-M78320  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,725,778 - 55,725,900UniSTSGRCh37
Build 36355,700,818 - 55,700,940RGDNCBI36
Celera355,692,815 - 55,692,937RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,774,688 - 55,774,810UniSTS
GeneMap99-GB4 RH Map3187.9UniSTS
NCBI RH Map3515.3UniSTS
A002T36  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,542,429 - 55,542,606UniSTSGRCh37
Build 36355,517,469 - 55,517,646RGDNCBI36
Celera355,509,362 - 55,509,539RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,591,226 - 55,591,403UniSTS
GeneMap99-GB4 RH Map3184.63UniSTS
NCBI RH Map3513.4UniSTS
Cda0je04  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,542,495 - 55,542,586UniSTSGRCh37
Build 36355,517,535 - 55,517,626RGDNCBI36
Celera355,509,428 - 55,509,519RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,591,292 - 55,591,383UniSTS
TNG Radiation Hybrid Map334458.0UniSTS
GeneMap99-GB4 RH Map3184.63UniSTS
NCBI RH Map3513.4UniSTS
D3S2371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37356,083,783 - 56,083,979UniSTSGRCh37
Build 36356,058,823 - 56,059,019RGDNCBI36
Celera356,050,789 - 56,050,977RGD
Cytogenetic Map3p14.3UniSTS
HuRef356,132,697 - 56,132,885UniSTS
Whitehead-YAC Contig Map3 UniSTS
WI-14613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37355,876,677 - 55,876,803UniSTSGRCh37
Build 36355,851,717 - 55,851,843RGDNCBI36
Celera355,843,613 - 55,843,739RGD
Cytogenetic Map3p14.3UniSTS
HuRef355,925,491 - 55,925,617UniSTS
GeneMap99-GB4 RH Map3186.85UniSTS
Whitehead-RH Map3238.8UniSTS
NCBI RH Map3514.3UniSTS
AHT028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371010,594,890 - 10,595,431UniSTSGRCh37
GRCh37813,497,596 - 13,497,785UniSTSGRCh37
Celera1010,523,029 - 10,523,570UniSTS
Celera812,462,891 - 12,463,080UniSTS
HuRef199,454,028 - 99,454,218UniSTS
HuRef356,233,790 - 56,233,959UniSTS
D3S1326E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p14.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1135 2301 2447 2184 4846 1466 2032 4 365 1147 206 2115 5695 5516 45 3711 774 1684 1557 167 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_015576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_132749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006146 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006148 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006150 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017006159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024453448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447948 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447952 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047447953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346139 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346141 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346142 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054346144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA826430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB002376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC098478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC099775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC104302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC105753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC116991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC121255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC121764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC126119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC130276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC060881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC094783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC111550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC112391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM762263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP794575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000288221   ⟹   ENSP00000288221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl355,508,311 - 56,468,467 (-)Ensembl
Ensembl Acc Id: ENST00000460849   ⟹   ENSP00000417445
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl355,510,776 - 56,468,337 (-)Ensembl
Ensembl Acc Id: ENST00000466358
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl355,606,596 - 55,610,893 (-)Ensembl
Ensembl Acc Id: ENST00000468118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl355,510,904 - 55,699,518 (-)Ensembl
Ensembl Acc Id: ENST00000469720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl355,510,563 - 55,647,226 (-)Ensembl
Ensembl Acc Id: ENST00000472917
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl356,434,582 - 56,467,134 (-)Ensembl
Ensembl Acc Id: ENST00000473469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl355,510,563 - 55,607,910 (-)Ensembl
Ensembl Acc Id: ENST00000477381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl356,433,789 - 56,434,747 (-)Ensembl
Ensembl Acc Id: ENST00000484530
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl355,509,234 - 55,610,910 (-)Ensembl
Ensembl Acc Id: ENST00000484857
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl356,148,988 - 56,173,899 (-)Ensembl
Ensembl Acc Id: ENST00000486496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl355,508,311 - 55,610,910 (-)Ensembl
Ensembl Acc Id: ENST00000487287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl355,511,140 - 55,766,799 (-)Ensembl
Ensembl Acc Id: ENST00000492584   ⟹   ENSP00000417280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl355,508,329 - 56,469,095 (-)Ensembl
Ensembl Acc Id: ENST00000612797   ⟹   ENSP00000483127
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl355,510,776 - 56,468,337 (-)Ensembl
RefSeq Acc Id: NM_015576   ⟹   NP_056391
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
GRCh37355,542,336 - 56,502,391 (-)RGD
Build 36355,517,376 - 56,477,431 (-)NCBI Archive
Celera355,509,269 - 56,468,649 (-)RGD
HuRef355,591,133 - 56,551,243 (-)ENTREZGENE
CHM1_1355,493,674 - 56,453,566 (-)NCBI
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
Sequence:
RefSeq Acc Id: NR_132749
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
CHM1_1355,493,674 - 56,453,566 (-)NCBI
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006141   ⟹   XP_016861630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006142   ⟹   XP_016861631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006146   ⟹   XP_016861635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006148   ⟹   XP_016861637
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006151   ⟹   XP_016861640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017006156   ⟹   XP_016861645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047447941   ⟹   XP_047303897
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,442,166 (-)NCBI
RefSeq Acc Id: XM_047447942   ⟹   XP_047303898
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_047447943   ⟹   XP_047303899
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_047447944   ⟹   XP_047303900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_047447945   ⟹   XP_047303901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_047447946   ⟹   XP_047303902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_047447947   ⟹   XP_047303903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_047447948   ⟹   XP_047303904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_047447949   ⟹   XP_047303905
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_047447950   ⟹   XP_047303906
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_047447951   ⟹   XP_047303907
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,681,642 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_047447952   ⟹   XP_047303908
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,508,311 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_047447953   ⟹   XP_047303909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,950,439 - 56,468,467 (-)NCBI
RefSeq Acc Id: XM_054346127   ⟹   XP_054202102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,482,594 (-)NCBI
RefSeq Acc Id: XM_054346128   ⟹   XP_054202103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346129   ⟹   XP_054202104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346130   ⟹   XP_054202105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346131   ⟹   XP_054202106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346132   ⟹   XP_054202107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346133   ⟹   XP_054202108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346134   ⟹   XP_054202109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346135   ⟹   XP_054202110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346136   ⟹   XP_054202111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346137   ⟹   XP_054202112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346138   ⟹   XP_054202113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346139   ⟹   XP_054202114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346140   ⟹   XP_054202115
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346141   ⟹   XP_054202116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346142   ⟹   XP_054202117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,707,757 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346143   ⟹   XP_054202118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,542,510 - 56,508,891 (-)NCBI
RefSeq Acc Id: XM_054346144   ⟹   XP_054202119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0355,990,822 - 56,508,891 (-)NCBI
Protein Sequences
Protein RefSeqs NP_056391 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861630 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861631 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861635 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861637 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861640 (Get FASTA)   NCBI Sequence Viewer  
  XP_016861645 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303897 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303898 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303899 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303900 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303901 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303902 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303903 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303904 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303905 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303906 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303907 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303908 (Get FASTA)   NCBI Sequence Viewer  
  XP_047303909 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202102 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202103 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202104 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202105 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202106 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202107 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202108 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202109 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202110 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202111 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202112 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202113 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202114 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202115 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202116 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202117 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202118 (Get FASTA)   NCBI Sequence Viewer  
  XP_054202119 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI11551 (Get FASTA)   NCBI Sequence Viewer  
  AAI12392 (Get FASTA)   NCBI Sequence Viewer  
  BAA20832 (Get FASTA)   NCBI Sequence Viewer  
  EAW65315 (Get FASTA)   NCBI Sequence Viewer  
  EAW65316 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000288221
  ENSP00000288221.6
  ENSP00000417280
  ENSP00000417280.3
  ENSP00000417445.1
GenBank Protein O15083 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_056391   ⟸   NM_015576
- UniProtKB: Q2T9F6 (UniProtKB/Swiss-Prot),   Q86TK4 (UniProtKB/Swiss-Prot),   O15083 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016861645   ⟸   XM_017006156
- Peptide Label: isoform X12
- Sequence:
RefSeq Acc Id: XP_016861637   ⟸   XM_017006148
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_016861640   ⟸   XM_017006151
- Peptide Label: isoform X10
- Sequence:
RefSeq Acc Id: XP_016861635   ⟸   XM_017006146
- Peptide Label: isoform X8
- Sequence:
RefSeq Acc Id: XP_016861631   ⟸   XM_017006142
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_016861630   ⟸   XM_017006141
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000417280   ⟸   ENST00000492584
Ensembl Acc Id: ENSP00000483127   ⟸   ENST00000612797
Ensembl Acc Id: ENSP00000288221   ⟸   ENST00000288221
Ensembl Acc Id: ENSP00000417445   ⟸   ENST00000460849
RefSeq Acc Id: XP_047303906   ⟸   XM_047447950
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047303908   ⟸   XM_047447952
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047303904   ⟸   XM_047447948
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047303903   ⟸   XM_047447947
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047303902   ⟸   XM_047447946
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047303905   ⟸   XM_047447949
- Peptide Label: isoform X11
- UniProtKB: H7C4G9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047303899   ⟸   XM_047447943
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047303900   ⟸   XM_047447944
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047303901   ⟸   XM_047447945
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047303898   ⟸   XM_047447942
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047303897   ⟸   XM_047447941
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047303907   ⟸   XM_047447951
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047303909   ⟸   XM_047447953
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054202116   ⟸   XM_054346141
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054202115   ⟸   XM_054346140
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054202118   ⟸   XM_054346143
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054202112   ⟸   XM_054346137
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054202111   ⟸   XM_054346136
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054202113   ⟸   XM_054346138
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054202110   ⟸   XM_054346135
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054202109   ⟸   XM_054346134
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054202114   ⟸   XM_054346139
- Peptide Label: isoform X11
- UniProtKB: H7C4G9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054202105   ⟸   XM_054346130
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054202106   ⟸   XM_054346131
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054202103   ⟸   XM_054346128
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054202108   ⟸   XM_054346133
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054202107   ⟸   XM_054346132
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054202104   ⟸   XM_054346129
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054202102   ⟸   XM_054346127
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054202117   ⟸   XM_054346142
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054202119   ⟸   XM_054346144
- Peptide Label: isoform X14

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15083-F1-model_v2 AlphaFold O15083 1-957 view protein structure

Promoters
RGD ID:6864764
Promoter ID:EPDNEW_H5547
Type:initiation region
Name:ERC2_3
Description:ELKS/RAB6-interacting/CAST family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5548  EPDNEW_H5549  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38355,610,910 - 55,610,970EPDNEW
RGD ID:6864766
Promoter ID:EPDNEW_H5548
Type:initiation region
Name:ERC2_1
Description:ELKS/RAB6-interacting/CAST family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5547  EPDNEW_H5549  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38356,468,359 - 56,468,419EPDNEW
RGD ID:6864836
Promoter ID:EPDNEW_H5549
Type:initiation region
Name:ERC2_2
Description:ELKS/RAB6-interacting/CAST family member 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5547  EPDNEW_H5548  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38356,468,554 - 56,468,614EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31922 AgrOrtholog
COSMIC ERC2 COSMIC
Ensembl Genes ENSG00000187672 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000288221 ENTREZGENE
  ENST00000288221.11 UniProtKB/Swiss-Prot
  ENST00000460849.5 UniProtKB/Swiss-Prot
  ENST00000492584 ENTREZGENE
  ENST00000492584.3 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.1490 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000187672 GTEx
HGNC ID HGNC:31922 ENTREZGENE
Human Proteome Map ERC2 Human Proteome Map
InterPro ELKS/CAST UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:26059 UniProtKB/Swiss-Prot
NCBI Gene 26059 ENTREZGENE
OMIM 617250 OMIM
PANTHER ELKS/RAB6-INTERACTING/CAST PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR18861:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cast UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162385249 PharmGKB
Superfamily-SCOP Tropomyosin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ERC2_HUMAN UniProtKB/Swiss-Prot
  H7C4G9 ENTREZGENE, UniProtKB/TrEMBL
  O15083 ENTREZGENE
  Q2T9F6 ENTREZGENE
  Q86TK4 ENTREZGENE
UniProt Secondary Q2T9F6 UniProtKB/Swiss-Prot
  Q86TK4 UniProtKB/Swiss-Prot