EHD3 (EH domain containing 3) - Rat Genome Database

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Gene: EHD3 (EH domain containing 3) Homo sapiens
Analyze
Symbol: EHD3
Name: EH domain containing 3
RGD ID: 1346639
HGNC Page HGNC:3244
Description: Predicted to enable nucleic acid binding activity. Involved in several processes, including cytosolic transport; endocytic recycling; and protein homooligomerization. Acts upstream of or within protein localization to plasma membrane and regulation of cardiac muscle cell membrane potential. Located in ciliary pocket membrane and recycling endosome membrane.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: EH domain-containing protein 3; EH-domain containing 3; PAST homolog 3; PAST3
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
GRCh38231,234,152 - 31,269,451 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl231,234,152 - 31,269,451 (+)EnsemblGRCh38hg38GRCh38
GRCh37231,457,018 - 31,492,317 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36231,310,707 - 31,344,764 (+)NCBINCBI36Build 36hg18NCBI36
Build 34231,368,853 - 31,402,911NCBI
Celera231,299,596 - 31,333,966 (+)NCBICelera
Cytogenetic Map2p23.1NCBI
HuRef231,194,543 - 31,228,913 (+)NCBIHuRef
CHM1_1231,387,489 - 31,421,882 (+)NCBICHM1_1
T2T-CHM13v2.0231,278,316 - 31,313,593 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-methylcholanthrene  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (EXP)
5-aza-2'-deoxycytidine  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
choline  (ISO)
cisplatin  (EXP)
D-glucose  (ISO)
dexamethasone  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fluoranthene  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
glucose  (ISO)
hydrogen sulfide  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
mercaptopurine  (ISO)
methidathion  (ISO)
nimesulide  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
purine-6-thiol  (ISO)
rac-lactic acid  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP)
starch  (ISO)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10673336   PMID:11423532   PMID:12121420   PMID:12477932   PMID:12665801   PMID:15020713   PMID:15489334   PMID:16251358   PMID:16344560   PMID:17233914   PMID:17507647   PMID:19139087  
PMID:19820697   PMID:19864458   PMID:20489164   PMID:21423176   PMID:21791287   PMID:21873635   PMID:22139419   PMID:22337703   PMID:22406195   PMID:22675492   PMID:24019528   PMID:24026423  
PMID:24306026   PMID:24607927   PMID:24997812   PMID:25686250   PMID:26226295   PMID:26344197   PMID:27173435   PMID:27189942   PMID:27811356   PMID:28514442   PMID:28611215   PMID:31056421  
PMID:31091453   PMID:32296183   PMID:33961781   PMID:34349018   PMID:35256949   PMID:35831314   PMID:36168628   PMID:37071682   PMID:38117590   PMID:38334954   PMID:39238192  


Genomics

Comparative Map Data
EHD3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38231,234,152 - 31,269,451 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl231,234,152 - 31,269,451 (+)EnsemblGRCh38hg38GRCh38
GRCh37231,457,018 - 31,492,317 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36231,310,707 - 31,344,764 (+)NCBINCBI36Build 36hg18NCBI36
Build 34231,368,853 - 31,402,911NCBI
Celera231,299,596 - 31,333,966 (+)NCBICelera
Cytogenetic Map2p23.1NCBI
HuRef231,194,543 - 31,228,913 (+)NCBIHuRef
CHM1_1231,387,489 - 31,421,882 (+)NCBICHM1_1
T2T-CHM13v2.0231,278,316 - 31,313,593 (+)NCBIT2T-CHM13v2.0
Ehd3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391774,111,836 - 74,139,088 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1774,111,129 - 74,139,089 (+)EnsemblGRCm39 Ensembl
GRCm381773,804,841 - 73,832,093 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1773,804,134 - 73,832,094 (+)EnsemblGRCm38mm10GRCm38
MGSCv371774,154,181 - 74,181,433 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361773,709,754 - 73,736,970 (+)NCBIMGSCv36mm8
Celera1778,096,325 - 78,123,512 (+)NCBICelera
Cytogenetic Map17E2NCBI
cM Map1745.2NCBI
Ehd3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8627,392,709 - 27,417,445 (-)NCBIGRCr8
mRatBN7.2621,640,861 - 21,665,601 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl621,639,290 - 21,665,236 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx621,969,572 - 21,994,301 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0622,285,418 - 22,310,143 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0621,765,853 - 21,790,578 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0625,076,012 - 25,102,457 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl625,074,955 - 25,100,977 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0634,923,729 - 34,949,869 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4621,638,705 - 21,686,023 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1621,641,657 - 21,688,976 (-)NCBI
Celera621,191,963 - 21,214,991 (-)NCBICelera
Cytogenetic Map6q14NCBI
Ehd3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546912,953,645 - 12,984,430 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546912,953,800 - 12,984,296 (+)NCBIChiLan1.0ChiLan1.0
EHD3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21295,230,506 - 95,265,388 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12A95,234,481 - 95,269,366 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02A31,245,908 - 31,280,485 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12A31,317,432 - 31,353,312 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2A31,317,432 - 31,353,312 (+)Ensemblpanpan1.1panPan2
EHD3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11724,828,289 - 24,854,990 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1724,828,372 - 24,853,400 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1724,622,571 - 24,649,257 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01725,392,047 - 25,418,779 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1725,392,095 - 25,417,697 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11724,695,316 - 24,722,054 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01724,757,373 - 24,784,106 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01724,857,360 - 24,884,084 (+)NCBIUU_Cfam_GSD_1.0
Ehd3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440629268,943,443 - 68,974,729 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364931,864,755 - 1,896,097 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364931,864,836 - 1,896,079 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EHD3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3108,100,401 - 108,134,906 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13108,103,631 - 108,135,161 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
EHD3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11476,237,345 - 76,271,557 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1476,236,246 - 76,271,546 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604535,801,161 - 35,835,035 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ehd3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473813,032,604 - 13,062,795 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473813,033,491 - 13,062,795 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EHD3
55 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2p25.3-23.1(chr2:30141-31766749)x3 copy number gain See cases [RCV000052929] Chr2:30141..31766749 [GRCh38]
Chr2:30141..31991818 [GRCh37]
Chr2:20141..31845322 [NCBI36]
Chr2:2p25.3-23.1		 pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3 copy number gain See cases [RCV000052933] Chr2:66097..55570637 [GRCh38]
Chr2:66097..55797773 [GRCh37]
Chr2:56097..55651277 [NCBI36]
Chr2:2p25.3-16.1		 pathogenic
NM_014600.2(EHD3):c.238G>A (p.Glu80Lys) single nucleotide variant Malignant melanoma [RCV000065557] Chr2:31244284 [GRCh38]
Chr2:31467150 [GRCh37]
Chr2:31320654 [NCBI36]
Chr2:2p23.1		 not provided
NM_014600.2(EHD3):c.1592G>A (p.Arg531Lys) single nucleotide variant Malignant melanoma [RCV000065558] Chr2:31266688 [GRCh38]
Chr2:31489554 [GRCh37]
Chr2:31343058 [NCBI36]
Chr2:2p23.1		 not provided
NM_014600.2(EHD3):c.1593G>A (p.Arg531=) single nucleotide variant Malignant melanoma [RCV000065559] Chr2:31266689 [GRCh38]
Chr2:31489555 [GRCh37]
Chr2:31343059 [NCBI36]
Chr2:2p23.1		 not provided
NM_014600.2(EHD3):c.858C>A (p.Pro286=) single nucleotide variant Malignant melanoma [RCV000060553] Chr2:31260865 [GRCh38]
Chr2:31483731 [GRCh37]
Chr2:31337235 [NCBI36]
Chr2:2p23.1		 not provided
NM_014600.2(EHD3):c.859C>T (p.Arg287Ter) single nucleotide variant Malignant melanoma [RCV000060554] Chr2:31260866 [GRCh38]
Chr2:31483732 [GRCh37]
Chr2:31337236 [NCBI36]
Chr2:2p23.1		 not provided
inv(2)(p21p23.2) inversion Endometrial carcinoma [RCV000659263] Chr2:29447680..42554394 [GRCh37]
Chr2:2p23.2-21		 likely pathogenic
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3 copy number gain See cases [RCV000141829] Chr2:12770..33711509 [GRCh38]
Chr2:12770..33936576 [GRCh37]
Chr2:2770..33790080 [NCBI36]
Chr2:2p25.3-22.3		 pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3 copy number gain See cases [RCV000141494] Chr2:7495123..87705899 [GRCh38]
Chr2:7635254..88005418 [GRCh37]
Chr2:7552705..87786533 [NCBI36]
Chr2:2p25.1-11.2		 benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3 copy number gain See cases [RCV000143682] Chr2:236816..45983232 [GRCh38]
Chr2:236816..46210371 [GRCh37]
Chr2:226816..46063875 [NCBI36]
Chr2:2p25.3-21		 pathogenic
GRCh37/hg19 2p23.1(chr2:30371106-31490282)x3 copy number gain See cases [RCV000240369] Chr2:30371106..31490282 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3 copy number gain See cases [RCV000454271] Chr2:27861707..60790985 [GRCh37]
Chr2:2p23.3-16.1		 pathogenic
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3 copy number gain See cases [RCV000447397] Chr2:28069882..43543420 [GRCh37]
Chr2:2p23.2-21		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.1(chr2:31435578-31661595)x1 copy number loss See cases [RCV000510664] Chr2:31435578..31661595 [GRCh37]
Chr2:2p23.1		 likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394) inversion Small cell lung carcinoma [RCV000576833] Chr2:29446394..42552694 [GRCh37]
Chr2:2p23.2-21		 pathogenic
NM_014600.3(EHD3):c.1556A>G (p.Asn519Ser) single nucleotide variant not specified [RCV004333646] Chr2:31266652 [GRCh38]
Chr2:31489518 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1418G>A (p.Arg473His) single nucleotide variant not specified [RCV004295781] Chr2:31266514 [GRCh38]
Chr2:31489380 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.2-22.3(chr2:29240004-32380876)x1 copy number loss not provided [RCV000682149] Chr2:29240004..32380876 [GRCh37]
Chr2:2p23.2-22.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3 copy number gain not provided [RCV000752875] Chr2:22665048..52850368 [GRCh37]
Chr2:2p24.1-16.3		 pathogenic
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3 copy number gain not provided [RCV001532444] Chr2:24881528..43460021 [GRCh37]
Chr2:2p23.3-21		 likely pathogenic
NM_014600.3(EHD3):c.502+9C>T single nucleotide variant not provided [RCV000946601] Chr2:31249477 [GRCh38]
Chr2:31472343 [GRCh37]
Chr2:2p23.1		 benign
NM_014600.3(EHD3):c.645A>G (p.Arg215=) single nucleotide variant not provided [RCV000973301] Chr2:31260652 [GRCh38]
Chr2:31483518 [GRCh37]
Chr2:2p23.1		 benign
GRCh37/hg19 2p23.1(chr2:31434360-31658788)x1 copy number loss not provided [RCV000850033] Chr2:31434360..31658788 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1 copy number loss not provided [RCV000848001] Chr2:29940473..36813297 [GRCh37]
Chr2:2p23.2-22.2		 pathogenic
GRCh37/hg19 2p23.1(chr2:31281703-31789508)x1 copy number loss not provided [RCV000848596] Chr2:31281703..31789508 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.1(chr2:31434360-31658788)x1 copy number loss not provided [RCV000846167] Chr2:31434360..31658788 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.1(chr2:31274044-31549757)x3 copy number gain not provided [RCV001005240] Chr2:31274044..31549757 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3 copy number gain See cases [RCV001581099] Chr2:24601818..43466284 [GRCh37]
Chr2:2p23.3-21		 pathogenic
NM_014600.3(EHD3):c.985A>C (p.Lys329Gln) single nucleotide variant not specified [RCV004305637] Chr2:31261618 [GRCh38]
Chr2:31484484 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1287G>T (p.Gly429=) single nucleotide variant not provided [RCV000911824] Chr2:31266383 [GRCh38]
Chr2:31489249 [GRCh37]
Chr2:2p23.1		 benign
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p23.1(chr2:31431801-31661595)x1 copy number loss not provided [RCV001827762] Chr2:31431801..31661595 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.1(chr2:30878949-31608905)x3 copy number gain not provided [RCV001833010] Chr2:30878949..31608905 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.2-21(chr2:29899368-42441440) copy number loss not specified [RCV002053089] Chr2:29899368..42441440 [GRCh37]
Chr2:2p23.2-21		 pathogenic
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1 copy number loss See cases [RCV002287563] Chr2:11504318..111365996 [GRCh37]
Chr2:2p25.1-q13		 pathogenic
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3 copy number gain not provided [RCV002473946] Chr2:706460..35523639 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_014600.3(EHD3):c.1549C>G (p.Leu517Val) single nucleotide variant not specified [RCV004147346] Chr2:31266645 [GRCh38]
Chr2:31489511 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1314G>C (p.Glu438Asp) single nucleotide variant not specified [RCV004159082] Chr2:31266410 [GRCh38]
Chr2:31489276 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1345G>A (p.Asp449Asn) single nucleotide variant not specified [RCV004192196] Chr2:31266441 [GRCh38]
Chr2:31489307 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.90G>C (p.Lys30Asn) single nucleotide variant not specified [RCV004079106] Chr2:31234711 [GRCh38]
Chr2:31457577 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1169T>C (p.Ile390Thr) single nucleotide variant not specified [RCV004148861] Chr2:31266265 [GRCh38]
Chr2:31489131 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1309G>A (p.Ala437Thr) single nucleotide variant not specified [RCV004104193] Chr2:31266405 [GRCh38]
Chr2:31489271 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.34A>G (p.Arg12Gly) single nucleotide variant not specified [RCV004113417] Chr2:31234655 [GRCh38]
Chr2:31457521 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1211G>A (p.Arg404Gln) single nucleotide variant not specified [RCV004222825] Chr2:31266307 [GRCh38]
Chr2:31489173 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1465G>A (p.Asp489Asn) single nucleotide variant not specified [RCV004211043] Chr2:31266561 [GRCh38]
Chr2:31489427 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1237G>T (p.Ala413Ser) single nucleotide variant not specified [RCV004178427] Chr2:31266333 [GRCh38]
Chr2:31489199 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.780C>G (p.His260Gln) single nucleotide variant not specified [RCV004075638] Chr2:31260787 [GRCh38]
Chr2:31483653 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1598T>C (p.Val533Ala) single nucleotide variant not specified [RCV004087137] Chr2:31266694 [GRCh38]
Chr2:31489560 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.512T>C (p.Phe171Ser) single nucleotide variant not specified [RCV004105578] Chr2:31260519 [GRCh38]
Chr2:31483385 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1558G>A (p.Glu520Lys) single nucleotide variant not specified [RCV004265673] Chr2:31266654 [GRCh38]
Chr2:31489520 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.869C>T (p.Ala290Val) single nucleotide variant not specified [RCV004272546] Chr2:31260876 [GRCh38]
Chr2:31483742 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1332C>G (p.Asp444Glu) single nucleotide variant not specified [RCV004252127] Chr2:31266428 [GRCh38]
Chr2:31489294 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1162C>T (p.His388Tyr) single nucleotide variant not specified [RCV004353256] Chr2:31266258 [GRCh38]
Chr2:31489124 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1 copy number loss not specified [RCV003986376] Chr2:30814984..42798684 [GRCh37]
Chr2:2p23.1-21		 pathogenic
NM_014600.3(EHD3):c.1030C>T (p.Arg344Trp) single nucleotide variant not specified [RCV004377604] Chr2:31261663 [GRCh38]
Chr2:31484529 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1110G>C (p.Lys370Asn) single nucleotide variant not specified [RCV004377605] Chr2:31266206 [GRCh38]
Chr2:31489072 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1433A>G (p.Asn478Ser) single nucleotide variant not specified [RCV004377607] Chr2:31266529 [GRCh38]
Chr2:31489395 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.16G>T (p.Gly6Cys) single nucleotide variant not specified [RCV004377608] Chr2:31234637 [GRCh38]
Chr2:31457503 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.967G>A (p.Gly323Arg) single nucleotide variant not specified [RCV004377610] Chr2:31261600 [GRCh38]
Chr2:31484466 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.978C>G (p.Asn326Lys) single nucleotide variant not specified [RCV004377611] Chr2:31261611 [GRCh38]
Chr2:31484477 [GRCh37]
Chr2:2p23.1		 uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3 copy number gain See cases [RCV004442780] Chr2:12771..35541353 [GRCh37]
Chr2:2p25.3-22.3		 pathogenic
NM_014600.3(EHD3):c.293T>A (p.Ile98Asn) single nucleotide variant not specified [RCV004377609] Chr2:31244339 [GRCh38]
Chr2:31467205 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.92G>C (p.Ser31Thr) single nucleotide variant not specified [RCV004622508] Chr2:31234713 [GRCh38]
Chr2:31457579 [GRCh37]
Chr2:2p23.1		 likely benign
NM_014600.3(EHD3):c.849G>T (p.Gln283His) single nucleotide variant not specified [RCV004622501] Chr2:31260856 [GRCh38]
Chr2:31483722 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.1106G>C (p.Ser369Thr) single nucleotide variant not specified [RCV004622502] Chr2:31266202 [GRCh38]
Chr2:31489068 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.175C>T (p.Pro59Ser) single nucleotide variant not specified [RCV004622503] Chr2:31234796 [GRCh38]
Chr2:31457662 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.955C>T (p.Pro319Ser) single nucleotide variant not specified [RCV004622504] Chr2:31261588 [GRCh38]
Chr2:31484454 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.122G>A (p.Arg41His) single nucleotide variant not specified [RCV004622505] Chr2:31234743 [GRCh38]
Chr2:31457609 [GRCh37]
Chr2:2p23.1		 uncertain significance
NM_014600.3(EHD3):c.121C>A (p.Arg41Ser) single nucleotide variant not specified [RCV004622506] Chr2:31234742 [GRCh38]
Chr2:31457608 [GRCh37]
Chr2:2p23.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2361
Count of miRNA genes:879
Interacting mature miRNAs:1025
Transcripts:ENST00000322054, ENST00000541626
Prediction methods:Miranda, Rnahybrid
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
407110980GWAS759956_Heosinophil count QTL GWAS759956 (human)1e-08eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)23123511531235116Human
407005027GWAS654003_Hneutrophil count QTL GWAS654003 (human)2e-12neutrophil quantity (VT:0000222)blood neutrophil count (CMO:0000030)23124098431240985Human
407024609GWAS673585_Hmean platelet volume QTL GWAS673585 (human)3e-11mean platelet volumemean platelet volume (CMO:0001348)23124196331241964Human
406890755GWAS539731_Hmean platelet volume QTL GWAS539731 (human)8e-109mean platelet volumemean platelet volume (CMO:0001348)23125497231254973Human
406968261GWAS617237_Hplatelet component distribution width QTL GWAS617237 (human)9e-15platelet component distribution widthplatelet distribution width (CMO:0001350)23124757431247575Human
407057287GWAS706263_Hplatelet count QTL GWAS706263 (human)9e-14platelet quantity (VT:0003179)platelet count (CMO:0000029)23125943431259435Human
406977031GWAS626007_Hreticulocyte count QTL GWAS626007 (human)9e-11reticulocyte counttotal reticulocyte count (CMO:0003020)23124151931241520Human
407027364GWAS676340_Hestradiol measurement QTL GWAS676340 (human)0.0000005estradiol measurementblood estradiol level (CMO:0000513)23125137631251377Human
406968262GWAS617238_Hplatelet component distribution width QTL GWAS617238 (human)2e-225platelet component distribution widthplatelet distribution width (CMO:0001350)23125497231254973Human
407057896GWAS706872_Hmean platelet volume QTL GWAS706872 (human)1e-12mean platelet volumemean platelet volume (CMO:0001348)23124151931241520Human
407022121GWAS671097_Hplatelet count QTL GWAS671097 (human)3e-256platelet quantity (VT:0003179)platelet count (CMO:0000029)23125497231254973Human
406951658GWAS600634_Hplatelet count QTL GWAS600634 (human)9e-73platelet quantity (VT:0003179)platelet count (CMO:0000029)23125497231254973Human
406954254GWAS603230_Hplatelet crit QTL GWAS603230 (human)1e-18platelet critplateletcrit (CMO:0001349)23125497231254973Human
406960400GWAS609376_Hreticulocyte count QTL GWAS609376 (human)3e-09reticulocyte counttotal reticulocyte count (CMO:0003020)23124151931241520Human
407079607GWAS728583_Hmean platelet volume QTL GWAS728583 (human)0.000004mean platelet volumemean platelet volume (CMO:0001348)23124151931241520Human
406967743GWAS616719_Hreticulocyte count QTL GWAS616719 (human)6e-11reticulocyte counttotal reticulocyte count (CMO:0003020)23124151931241520Human

Markers in Region
RH11745  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,491,019 - 31,491,214UniSTSGRCh37
Build 36231,344,523 - 31,344,718RGDNCBI36
Celera231,333,725 - 31,333,920RGD
Cytogenetic Map2p21UniSTS
HuRef231,228,672 - 31,228,867UniSTS
GeneMap99-GB4 RH Map2103.33UniSTS
NCBI RH Map2213.6UniSTS
RH12575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,491,077 - 31,491,214UniSTSGRCh37
Build 36231,344,581 - 31,344,718RGDNCBI36
Celera231,333,783 - 31,333,920RGD
Cytogenetic Map2p21UniSTS
HuRef231,228,730 - 31,228,867UniSTS
GeneMap99-GB4 RH Map2105.35UniSTS
NCBI RH Map2213.5UniSTS
D2S2137  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,491,110 - 31,491,229UniSTSGRCh37
Build 36231,344,614 - 31,344,733RGDNCBI36
Celera231,333,816 - 31,333,935RGD
Cytogenetic Map2p21UniSTS
HuRef231,228,763 - 31,228,882UniSTS
RH109431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,490,849 - 31,491,219UniSTSGRCh37
Build 36231,344,353 - 31,344,723RGDNCBI36
Celera231,333,555 - 31,333,925RGD
Cytogenetic Map2p21UniSTS
HuRef231,228,502 - 31,228,872UniSTS
EHD3_613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,489,303 - 31,490,198UniSTSGRCh37
Build 36231,342,807 - 31,343,702RGDNCBI36
Celera231,332,013 - 31,332,904RGD
HuRef231,226,964 - 31,227,851UniSTS
T03471  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37231,491,013 - 31,491,224UniSTSGRCh37
Build 36231,344,517 - 31,344,728RGDNCBI36
Celera231,333,719 - 31,333,930RGD
Cytogenetic Map2p21UniSTS
HuRef231,228,666 - 31,228,877UniSTS
RH142835  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2p21UniSTS


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
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2384 2788 2248 4966 1723 2343 6 621 1915 462 2262 7230 6437 51 3734 1 851 1737 1612 175 1

Sequence


Ensembl Acc Id: ENST00000322054   ⟹   ENSP00000327116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl231,234,152 - 31,269,451 (+)Ensembl
RefSeq Acc Id: NM_014600   ⟹   NP_055415
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,234,152 - 31,269,451 (+)NCBI
GRCh37231,456,880 - 31,491,260 (+)RGD
Build 36231,310,707 - 31,344,764 (+)NCBI Archive
Celera231,299,596 - 31,333,966 (+)RGD
HuRef231,194,543 - 31,228,913 (+)RGD
CHM1_1231,387,489 - 31,421,882 (+)NCBI
T2T-CHM13v2.0231,278,316 - 31,313,593 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011532806   ⟹   XP_011531108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,254,917 - 31,269,451 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054341639   ⟹   XP_054197614
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0231,299,059 - 31,313,593 (+)NCBI
RefSeq Acc Id: NP_055415   ⟸   NM_014600
- UniProtKB: Q8N514 (UniProtKB/Swiss-Prot),   D6W574 (UniProtKB/Swiss-Prot),   B4DFR5 (UniProtKB/Swiss-Prot),   Q9NZB3 (UniProtKB/Swiss-Prot),   Q9NZN3 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011531108   ⟸   XM_011532806
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000327116   ⟸   ENST00000322054
RefSeq Acc Id: XP_054197614   ⟸   XM_054341639
- Peptide Label: isoform X1
Protein Domains
Dynamin-type G   EF-hand   EH

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZN3-F1-model_v2 AlphaFold Q9NZN3 1-535 view protein structure

Promoters
RGD ID:6860030
Promoter ID:EPDNEW_H3179
Type:initiation region
Name:EHD3_1
Description:EH domain containing 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38231,234,152 - 31,234,212EPDNEW
RGD ID:6796942
Promoter ID:HG_KWN:32093
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000398824,   OTTHUMT00000216810,   OTTHUMT00000325009
Position:
Human AssemblyChrPosition (strand)Source
Build 36231,310,249 - 31,310,749 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3244 AgrOrtholog
COSMIC EHD3 COSMIC
Ensembl Genes ENSG00000013016 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000322054 ENTREZGENE
  ENST00000322054.10 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.268.20 UniProtKB/Swiss-Prot
  3.40.50.300 UniProtKB/Swiss-Prot
  EF-hand UniProtKB/Swiss-Prot
GTEx ENSG00000013016 GTEx
HGNC ID HGNC:3244 ENTREZGENE
Human Proteome Map EHD3 Human Proteome Map
InterPro DUF5600 UniProtKB/Swiss-Prot
  Dynamin_N UniProtKB/Swiss-Prot
  EF-hand-dom_pair UniProtKB/Swiss-Prot
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot
  EF_hand_dom UniProtKB/Swiss-Prot
  EH_dom UniProtKB/Swiss-Prot
  EHD_N UniProtKB/Swiss-Prot
  G_DYNAMIN_dom UniProtKB/Swiss-Prot
  P-loop_NTPase UniProtKB/Swiss-Prot
KEGG Report hsa:30845 UniProtKB/Swiss-Prot
NCBI Gene 30845 ENTREZGENE
OMIM 605891 OMIM
PANTHER EH DOMAIN UniProtKB/Swiss-Prot
  EPIDERMAL GROWTH FACTOR RECEPTOR PATHWAY SUBSTRATE CLONE 15, ISOFORM A UniProtKB/Swiss-Prot
Pfam DUF5600 UniProtKB/Swiss-Prot
  Dynamin_N UniProtKB/Swiss-Prot
  EF-hand_4 UniProtKB/Swiss-Prot
  EHD_N UniProtKB/Swiss-Prot
PharmGKB PA27679 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot
  EF_HAND_2 UniProtKB/Swiss-Prot
  G_DYNAMIN_2 UniProtKB/Swiss-Prot
  PS50031 UniProtKB/Swiss-Prot
SMART SM00027 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot
  SSF52540 UniProtKB/Swiss-Prot
UniProt B4DFR5 ENTREZGENE
  D6W574 ENTREZGENE
  EHD3_HUMAN UniProtKB/Swiss-Prot
  Q8N514 ENTREZGENE
  Q9NZB3 ENTREZGENE
  Q9NZN3 ENTREZGENE
UniProt Secondary B4DFR5 UniProtKB/Swiss-Prot
  D6W574 UniProtKB/Swiss-Prot
  Q8N514 UniProtKB/Swiss-Prot
  Q9NZB3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 EHD3  EH domain containing 3    EH-domain containing 3  Symbol and/or name change 5135510 APPROVED