ASIC2 (acid sensing ion channel subunit 2) - Rat Genome Database

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Gene: ASIC2 (acid sensing ion channel subunit 2) Homo sapiens
Analyze
Symbol: ASIC2
Name: acid sensing ion channel subunit 2
RGD ID: 737359
HGNC Page HGNC:99
Description: Predicted to enable ligand-gated sodium channel activity. Involved in sensory perception of sour taste. Predicted to be located in dendritic spine; membrane; and neuronal cell body. Predicted to be active in postsynaptic density membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACCN; ACCN1; acid sensing (proton gated) ion channel 2; acid sensing ion channel 2; acid-sensing (proton-gated) ion channel 2; acid-sensing ion channel 2; amiloride-sensitive brain sodium channel; amiloride-sensitive cation channel 1; amiloride-sensitive cation channel 1, neuronal; amiloride-sensitive cation channel neuronal 1; ASIC2a; BNaC1; BNC1; brain Na+ channel-1; brain sodium channel 1; degenerin; hBNaC1; mammalian degenerin homolog; MDEG; neuronal amiloride-sensitive cation channel 1
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
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s).
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381733,013,087 - 34,156,768 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1733,013,087 - 34,174,964 (-)EnsemblGRCh38hg38GRCh38
GRCh371731,340,105 - 32,483,787 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361728,364,218 - 29,507,938 (-)NCBINCBI36Build 36hg18NCBI36
Build 341728,364,220 - 28,644,119NCBI
Celera1728,251,041 - 29,395,277 (-)NCBICelera
Cytogenetic Map17q11.2-q12NCBI
HuRef1728,668,308 - 28,669,144 (-)NCBIHuRef
HuRef1727,525,463 - 27,805,119 (-)NCBIHuRef
CHM1_11731,403,273 - 32,547,482 (-)NCBICHM1_1
T2T-CHM13v2.01733,959,166 - 35,103,157 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Writing good abstracts: it's a tought job. Carson A Phys Ther 1978 Feb;58(2):175-7.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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
5. [Various roentgenomorphological parallels in ulcers of the pyloro-duodenal area] Sokolov IuN, etal., Vestn Rentgenol Radiol 1978 Nov-Dec;(6):3-11.
6. The human degenerin MDEG, an amiloride-sensitive neuronal cation channel, is localized on chromosome 17q11.2-17q12 close to the microsatellite D17S798. Waldmann R, etal., Genomics 1996 Oct 15;37(2):269-70.
Additional References at PubMed
PMID:8626462   PMID:8631835   PMID:9037075   PMID:9360943   PMID:10842183   PMID:11739374   PMID:11802773   PMID:12477932   PMID:15471860   PMID:15489334   PMID:15504740   PMID:16704974  
PMID:17376794   PMID:17534430   PMID:17548344   PMID:17553932   PMID:19091960   PMID:19812697   PMID:20201926   PMID:20306292   PMID:20379614   PMID:20677014   PMID:21378988   PMID:21810271  
PMID:21811305   PMID:21873635   PMID:21961650   PMID:22157923   PMID:22493691   PMID:23251661   PMID:24324551   PMID:24529757   PMID:24847067   PMID:25224144   PMID:25744567   PMID:26033064  
PMID:26617738   PMID:27278329   PMID:27477936   PMID:28514442   PMID:28618956   PMID:28725010   PMID:28927426   PMID:30549327   PMID:31531354   PMID:33001583   PMID:33888907   PMID:33961781  
PMID:34199609   PMID:34215968   PMID:35224516   PMID:35256949  


Genomics

Comparative Map Data
ASIC2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381733,013,087 - 34,156,768 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1733,013,087 - 34,174,964 (-)EnsemblGRCh38hg38GRCh38
GRCh371731,340,105 - 32,483,787 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361728,364,218 - 29,507,938 (-)NCBINCBI36Build 36hg18NCBI36
Build 341728,364,220 - 28,644,119NCBI
Celera1728,251,041 - 29,395,277 (-)NCBICelera
Cytogenetic Map17q11.2-q12NCBI
HuRef1728,668,308 - 28,669,144 (-)NCBIHuRef
HuRef1727,525,463 - 27,805,119 (-)NCBIHuRef
CHM1_11731,403,273 - 32,547,482 (-)NCBICHM1_1
T2T-CHM13v2.01733,959,166 - 35,103,157 (-)NCBIT2T-CHM13v2.0
Asic2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391180,770,989 - 81,859,222 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1180,770,995 - 81,859,283 (-)EnsemblGRCm39 Ensembl
GRCm381180,880,163 - 81,968,396 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1180,880,169 - 81,968,457 (-)EnsemblGRCm38mm10GRCm38
MGSCv371180,693,667 - 81,781,898 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361180,696,367 - 80,969,098 (-)NCBIMGSCv36mm8
Celera1190,519,426 - 91,581,630 (-)NCBICelera
Cytogenetic Map11B5NCBI
cM Map1148.43NCBI
Asic2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81066,368,308 - 67,438,237 (-)NCBIGRCr8
mRatBN7.21065,870,592 - 66,940,577 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1065,870,594 - 66,940,424 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1070,498,595 - 71,562,027 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01070,003,921 - 71,067,382 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01065,464,793 - 66,528,510 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01068,247,800 - 69,347,223 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1068,248,655 - 68,517,564 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01067,915,396 - 68,982,618 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41069,103,244 - 70,190,305 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11069,117,480 - 69,386,966 (-)NCBI
Celera1064,828,913 - 65,888,336 (-)NCBICelera
Cytogenetic Map10q26NCBI
Asic2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554817,850,710 - 8,871,794 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554817,850,730 - 8,093,255 (-)NCBIChiLan1.0ChiLan1.0
ASIC2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21930,308,759 - 31,455,007 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11733,056,767 - 33,336,170 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01722,628,322 - 23,774,249 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11722,921,267 - 24,066,151 (+)NCBIpanpan1.1PanPan1.1panPan2
ASIC2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1939,082,465 - 40,084,612 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl939,082,806 - 40,083,842 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha938,308,412 - 39,243,743 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0939,899,729 - 40,900,560 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl939,900,070 - 40,900,561 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1938,685,696 - 39,686,492 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0938,974,406 - 39,980,826 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0939,054,053 - 40,055,731 (+)NCBIUU_Cfam_GSD_1.0
Asic2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560238,060,357 - 39,133,209 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936538938,752 - 2,011,177 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936538938,266 - 2,011,154 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ASIC2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1241,727,002 - 42,031,991 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11241,726,987 - 42,031,997 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21243,445,298 - 43,633,460 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ASIC2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11626,547,878 - 27,674,909 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660752,347,624 - 3,485,637 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Asic2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624875969,626 - 2,049,061 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624875969,857 - 2,049,531 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ASIC2
91 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001094.4(ASIC2):c.706+9363C>G single nucleotide variant Lung cancer [RCV000100421] Chr17:33102554 [GRCh38]
Chr17:31429572 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001094.4(ASIC2):c.690C>T (p.Pro230=) single nucleotide variant Lung cancer [RCV000100422] Chr17:33111933 [GRCh38]
Chr17:31438951 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001094.4(ASIC2):c.556-333425G>A single nucleotide variant Lung cancer [RCV000100423] Chr17:33445492 [GRCh38]
Chr17:31772510 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001094.4(ASIC2):c.556-343176A>T single nucleotide variant Lung cancer [RCV000100424] Chr17:33455243 [GRCh38]
Chr17:31782261 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001094.4(ASIC2):c.556-409591A>C single nucleotide variant Lung cancer [RCV000100426] Chr17:33521657 [GRCh38]
Chr17:31848676 [GRCh37]
Chr17:17q12
uncertain significance
NM_001094.4(ASIC2):c.555+399414G>T single nucleotide variant Lung cancer [RCV000100427] Chr17:33756564 [GRCh38]
Chr17:32083583 [GRCh37]
Chr17:17q12
uncertain significance
NM_001094.4(ASIC2):c.555+340196A>G single nucleotide variant Lung cancer [RCV000100428] Chr17:33815782 [GRCh38]
Chr17:32142801 [GRCh37]
Chr17:17q12
uncertain significance
NM_001094.4(ASIC2):c.555+295970G>T single nucleotide variant Lung cancer [RCV000100429] Chr17:33860008 [GRCh38]
Chr17:32187027 [GRCh37]
Chr17:17q12
uncertain significance
NM_001094.4(ASIC2):c.555+161541A>T single nucleotide variant Lung cancer [RCV000100430] Chr17:33994437 [GRCh38]
Chr17:32321456 [GRCh37]
Chr17:17q12
uncertain significance
NM_001094.4(ASIC2):c.555+160393C>A single nucleotide variant Lung cancer [RCV000100431] Chr17:33995585 [GRCh38]
Chr17:32322604 [GRCh37]
Chr17:17q12
uncertain significance
NM_001094.4(ASIC2):c.555+33529T>A single nucleotide variant Lung cancer [RCV000100432] Chr17:34122449 [GRCh38]
Chr17:32449468 [GRCh37]
Chr17:17q12
uncertain significance
GRCh38/hg38 17q12(chr17:33642695-34549211)x3 copy number gain See cases [RCV000054013] Chr17:33642695..34549211 [GRCh38]
Chr17:31969714..32876230 [GRCh37]
Chr17:28993827..29900343 [NCBI36]
Chr17:17q12
uncertain significance
GRCh38/hg38 17q12(chr17:33670906-34596087)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054042]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054042]|See cases [RCV000054042] Chr17:33670906..34596087 [GRCh38]
Chr17:31997925..32923106 [GRCh37]
Chr17:29022038..29947219 [NCBI36]
Chr17:17q12
uncertain significance
GRCh38/hg38 17q12(chr17:33715517-34301601)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054043]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054043]|See cases [RCV000054043] Chr17:33715517..34301601 [GRCh38]
Chr17:32042536..32628620 [GRCh37]
Chr17:29066649..29652733 [NCBI36]
Chr17:17q12
uncertain significance
NM_001094.4(ASIC2):c.556-365323C>T single nucleotide variant Lung cancer [RCV000100425] Chr17:33477390 [GRCh38]
Chr17:31804408 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1129C>A (p.His377Asn) single nucleotide variant Malignant tumor of prostate [RCV000149045] Chr17:33028251 [GRCh38]
Chr17:31355269 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh38/hg38 17q12(chr17:33777728-34301601)x3 copy number gain See cases [RCV000135956] Chr17:33777728..34301601 [GRCh38]
Chr17:32104747..32628620 [GRCh37]
Chr17:29128860..29652733 [NCBI36]
Chr17:17q12
uncertain significance
GRCh38/hg38 17q12(chr17:33671097-34595982)x3 copy number gain See cases [RCV000139003] Chr17:33671097..34595982 [GRCh38]
Chr17:31998116..32923001 [GRCh37]
Chr17:29022229..29947114 [NCBI36]
Chr17:17q12
likely benign
GRCh38/hg38 17q12(chr17:33671106-34595887)x3 copy number gain See cases [RCV000140285] Chr17:33671106..34595887 [GRCh38]
Chr17:31998125..32922906 [GRCh37]
Chr17:29022238..29947019 [NCBI36]
Chr17:17q12
likely benign
GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3 copy number gain not provided [RCV000762776] Chr17:25403446..31685464 [GRCh37]
Chr17:17q11.1-11.2
likely pathogenic
GRCh37/hg19 17q12(chr17:31982779-32917705)x3 copy number gain See cases [RCV000449299] Chr17:31982779..32917705 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:31958240-32937658)x3 copy number gain See cases [RCV000445952] Chr17:31958240..32937658 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30497948-31819040)x1 copy number loss See cases [RCV000447945] Chr17:30497948..31819040 [GRCh37]
Chr17:17q11.2-12
uncertain significance
GRCh37/hg19 17q12(chr17:31958240-32937658)x3 copy number gain See cases [RCV000511904] Chr17:31958240..32937658 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17q12(chr17:32064314-32643063)x3 copy number gain See cases [RCV000511568] Chr17:32064314..32643063 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q11.2-12(chr17:29578241-32142196)x1 copy number loss See cases [RCV000511107] Chr17:29578241..32142196 [GRCh37]
Chr17:17q11.2-12
pathogenic
NM_183377.2(ASIC2):c.1648C>T (p.Pro550Ser) single nucleotide variant not specified [RCV004333019] Chr17:33014009 [GRCh38]
Chr17:31341027 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q12(chr17:32351496-34455576)x1 copy number loss not provided [RCV000683918] Chr17:32351496..34455576 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q12(chr17:32063926-32065023)x3 copy number gain not provided [RCV000739487] Chr17:32063926..32065023 [GRCh37]
Chr17:17q12
benign
GRCh37/hg19 17q12(chr17:32063981-32064603)x3 copy number gain not provided [RCV000739488] Chr17:32063981..32064603 [GRCh37]
Chr17:17q12
benign
NM_183377.2(ASIC2):c.988-4G>A single nucleotide variant not provided [RCV000974296] Chr17:33028396 [GRCh38]
Chr17:31355414 [GRCh37]
Chr17:17q11.2
benign
Single allele deletion Neurodevelopmental disorder [RCV000787392] Chr17:31889285..33557612 [GRCh37]
Chr17:17q12
uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2
pathogenic
GRCh37/hg19 17q12(chr17:31957257-32944153)x3 copy number gain not provided [RCV000846469] Chr17:31957257..32944153 [GRCh37]
Chr17:17q12
uncertain significance
NM_183377.2(ASIC2):c.879A>C (p.Ala293=) single nucleotide variant not provided [RCV000911098] Chr17:33088971 [GRCh38]
Chr17:31415989 [GRCh37]
Chr17:17q11.2
benign
GRCh37/hg19 17q11.2-12(chr17:29989741-32355632) copy number loss Nanophthalmos 4 [RCV001260292] Chr17:29989741..32355632 [GRCh37]
Chr17:17q11.2-12
pathogenic
NM_183377.2(ASIC2):c.26T>G (p.Leu9Arg) single nucleotide variant not specified [RCV004310487] Chr17:33292090 [GRCh38]
Chr17:31619108 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.653T>C (p.Met218Thr) single nucleotide variant not specified [RCV004310488] Chr17:33291463 [GRCh38]
Chr17:31618481 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30497948-31819040) copy number loss not specified [RCV002052592] Chr17:30497948..31819040 [GRCh37]
Chr17:17q11.2-12
uncertain significance
GRCh37/hg19 17q12(chr17:31959226-32937658) copy number gain not specified [RCV002052595] Chr17:31959226..32937658 [GRCh37]
Chr17:17q12
uncertain significance
NM_183377.2(ASIC2):c.179C>T (p.Ser60Leu) single nucleotide variant not specified [RCV004301751] Chr17:33291937 [GRCh38]
Chr17:31618955 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1127T>C (p.Val376Ala) single nucleotide variant not specified [RCV004215288] Chr17:33028253 [GRCh38]
Chr17:31355271 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.857C>G (p.Thr286Arg) single nucleotide variant not specified [RCV004209987] Chr17:33111919 [GRCh38]
Chr17:31438937 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1501C>T (p.Leu501Phe) single nucleotide variant not specified [RCV004078278] Chr17:33017625 [GRCh38]
Chr17:31344643 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.519G>C (p.Glu173Asp) single nucleotide variant not specified [RCV004074814] Chr17:33291597 [GRCh38]
Chr17:31618615 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001094.5(ASIC2):c.245A>C (p.Gln82Pro) single nucleotide variant not specified [RCV004204418] Chr17:34156288 [GRCh38]
Chr17:32483307 [GRCh37]
Chr17:17q12
uncertain significance
NM_001094.5(ASIC2):c.437A>G (p.Tyr146Cys) single nucleotide variant not specified [RCV004178336] Chr17:34156096 [GRCh38]
Chr17:32483115 [GRCh37]
Chr17:17q12
uncertain significance
NM_183377.2(ASIC2):c.1610C>A (p.Pro537Gln) single nucleotide variant not specified [RCV004086490] Chr17:33014047 [GRCh38]
Chr17:31341065 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1651C>G (p.Leu551Val) single nucleotide variant not specified [RCV004118813] Chr17:33014006 [GRCh38]
Chr17:31341024 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.691C>T (p.Pro231Ser) single nucleotide variant not specified [RCV004096486] Chr17:33291425 [GRCh38]
Chr17:31618443 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.503G>A (p.Arg168His) single nucleotide variant not specified [RCV004160209] Chr17:33291613 [GRCh38]
Chr17:31618631 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.260C>T (p.Ala87Val) single nucleotide variant not specified [RCV004143034] Chr17:33291856 [GRCh38]
Chr17:31618874 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.187C>T (p.Arg63Cys) single nucleotide variant not specified [RCV004148284] Chr17:33291929 [GRCh38]
Chr17:31618947 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1658C>T (p.Thr553Met) single nucleotide variant not specified [RCV004156223] Chr17:33013999 [GRCh38]
Chr17:31341017 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1670C>T (p.Thr557Ile) single nucleotide variant not specified [RCV004177708] Chr17:33013987 [GRCh38]
Chr17:31341005 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.866C>T (p.Thr289Met) single nucleotide variant not specified [RCV004069410] Chr17:33088984 [GRCh38]
Chr17:31416002 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.271C>A (p.Leu91Met) single nucleotide variant not specified [RCV004123541] Chr17:33291845 [GRCh38]
Chr17:31618863 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.539C>T (p.Pro180Leu) single nucleotide variant not specified [RCV004180477] Chr17:33291577 [GRCh38]
Chr17:31618595 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1293C>G (p.Ser431Arg) single nucleotide variant not specified [RCV004274420] Chr17:33023917 [GRCh38]
Chr17:31350935 [GRCh37]
Chr17:17q11.2
uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988) copy number loss Chromosome 17q12 deletion syndrome [RCV003319594] Chr17:30572862..35843988 [GRCh37]
Chr17:17q11.2-12
pathogenic
NM_183377.2(ASIC2):c.1205C>T (p.Ala402Val) single nucleotide variant not specified [RCV004329296] Chr17:33024005 [GRCh38]
Chr17:31351023 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.121G>T (p.Gly41Cys) single nucleotide variant not specified [RCV004350703] Chr17:33291995 [GRCh38]
Chr17:31619013 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.65T>G (p.Met22Arg) single nucleotide variant not specified [RCV004359049] Chr17:33292051 [GRCh38]
Chr17:31619069 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1511A>G (p.Tyr504Cys) single nucleotide variant not specified [RCV004355760] Chr17:33017615 [GRCh38]
Chr17:31344633 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1079T>C (p.Ile360Thr) single nucleotide variant not specified [RCV004420765] Chr17:33028301 [GRCh38]
Chr17:31355319 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1145C>T (p.Ala382Val) single nucleotide variant not specified [RCV004420767] Chr17:33025976 [GRCh38]
Chr17:31352994 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1559A>G (p.Glu520Gly) single nucleotide variant not specified [RCV004420768] Chr17:33016002 [GRCh38]
Chr17:31343020 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.1564G>A (p.Asp522Asn) single nucleotide variant not specified [RCV004420769] Chr17:33015997 [GRCh38]
Chr17:31343015 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001094.5(ASIC2):c.412C>T (p.Arg138Trp) single nucleotide variant not specified [RCV004420772] Chr17:34156121 [GRCh38]
Chr17:32483140 [GRCh37]
Chr17:17q12
uncertain significance
NM_183377.2(ASIC2):c.1099A>G (p.Ile367Val) single nucleotide variant not specified [RCV004420766] Chr17:33028281 [GRCh38]
Chr17:31355299 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.376C>A (p.Arg126Ser) single nucleotide variant not specified [RCV004420770] Chr17:33291740 [GRCh38]
Chr17:31618758 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_001094.5(ASIC2):c.385G>A (p.Ala129Thr) single nucleotide variant not specified [RCV004420771] Chr17:34156148 [GRCh38]
Chr17:32483167 [GRCh37]
Chr17:17q12
uncertain significance
NM_183377.2(ASIC2):c.70C>G (p.Arg24Gly) single nucleotide variant not specified [RCV004420774] Chr17:33292046 [GRCh38]
Chr17:31619064 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.793G>A (p.Gly265Ser) single nucleotide variant not specified [RCV004420775] Chr17:33111983 [GRCh38]
Chr17:31439001 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.466C>T (p.His156Tyr) single nucleotide variant not specified [RCV004420773] Chr17:33291650 [GRCh38]
Chr17:31618668 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.976C>T (p.Gln326Ter) single nucleotide variant not provided [RCV004555970] Chr17:33088874 [GRCh38]
Chr17:31415892 [GRCh37]
Chr17:17q11.2
uncertain significance
NM_183377.2(ASIC2):c.50C>T (p.Pro17Leu) single nucleotide variant not specified [RCV004667266] Chr17:33292066 [GRCh38]
Chr17:31619084 [GRCh37]
Chr17:17q11.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1773
Count of miRNA genes:754
Interacting mature miRNAs:896
Transcripts:ENST00000225823, ENST00000359872, ENST00000448983, ENST00000579816, ENST00000583395
Prediction methods: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
597179544GWAS1275618_HSARS-CoV-2 antibody measurement, response to COVID-19 vaccine QTL GWAS1275618 (human)0.0000005SARS-CoV-2 antibody measurement, response to COVID-19 vaccineblood anti-SARS-CoV-2 antibody level (CMO:0003966)173349902333499024Human
406963523GWAS612499_Hclopidogrel metabolite measurement QTL GWAS612499 (human)1e-08clopidogrel metabolite measurement173322966333229664Human
597242522GWAS1338596_Htelomere length QTL GWAS1338596 (human)0.000005telomere length173342996533429966Human
407050314GWAS699290_Hfactor VIII measurement, coagulation factor measurement QTL GWAS699290 (human)0.000002factor VIII measurement, coagulation factor measurementblood coagulation measurement (CMO:0000204)173341040333410404Human
597266324GWAS1362398_Hfacial morphology measurement QTL GWAS1362398 (human)5e-08facial morphology trait (VT:0003743)173340963833409639Human
407156309GWAS805285_Hgut microbiome measurement QTL GWAS805285 (human)0.000006gut microbiome measurement173313290233132903Human
596969860GWAS1089379_Hmajor depressive disorder QTL GWAS1089379 (human)2e-09major depressive disorder173321469933214700Human
597332878GWAS1428952_Hage at initiation of smoking QTL GWAS1428952 (human)9e-10age at initiation of smoking173322994033229941Human
597115521GWAS1211595_Hmathematical ability QTL GWAS1211595 (human)2e-11mathematical ability173328547633285477Human
597611911GWAS1668771_Hesophageal ulcer QTL GWAS1668771 (human)4e-11esophageal ulcer173369678533696786Human
597116596GWAS1212670_Hcognitive function measurement QTL GWAS1212670 (human)2e-09cognitive function measurement173331304033313041Human
597096113GWAS1192187_Hbody height QTL GWAS1192187 (human)2e-08body height (VT:0001253)body height (CMO:0000106)173314643733146438Human
597046950GWAS1143024_Hadolescent idiopathic scoliosis QTL GWAS1143024 (human)2e-09adolescent idiopathic scoliosis173338442533384426Human
597121189GWAS1217263_Hintestinal permeability measurement QTL GWAS1217263 (human)0.000008intestine integrity trait (VT:0010554)173329983733299838Human
597295008GWAS1391082_Hcalcium measurement QTL GWAS1391082 (human)0.000008calcium measurementblood calcium level (CMO:0000502)173343361533433616Human
597070252GWAS1166326_Hmosquito bite reaction size measurement QTL GWAS1166326 (human)0.000005mosquito bite reaction size measurement173303752333037524Human
597333158GWAS1429232_HR-6-hydroxywarfarin measurement QTL GWAS1429232 (human)0.000009R-6-hydroxywarfarin measurement173370973533709736Human
407033724GWAS682700_Hunipolar depression QTL GWAS682700 (human)2e-10unipolar depression173321856533218566Human
597325019GWAS1421093_Hbody mass index QTL GWAS1421093 (human)5e-08body mass indexbody mass index (BMI) (CMO:0000105)173342061133420612Human
597057239GWAS1153313_Hfolic acid measurement QTL GWAS1153313 (human)0.000003folic acid measurement173345436133454362Human
597091796GWAS1187870_Hlongevity QTL GWAS1187870 (human)0.000006longevity173312163133121632Human
407163143GWAS812119_HFEV/FVC ratio, response to bronchodilator QTL GWAS812119 (human)0.000005FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)173320539633205397Human
597026769GWAS1122843_Hbody mass index QTL GWAS1122843 (human)4e-12body mass indexbody mass index (BMI) (CMO:0000105)173314643733146438Human
597151186GWAS1247260_Hbody mass index QTL GWAS1247260 (human)5e-12body mass indexbody mass index (BMI) (CMO:0000105)173314852733148528Human
597026770GWAS1122844_Hbody mass index QTL GWAS1122844 (human)7e-09body mass indexbody mass index (BMI) (CMO:0000105)173342216833422169Human
597325522GWAS1421596_Hbody mass index QTL GWAS1421596 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)173315201733152018Human
597164753GWAS1260827_Hlipid measurement QTL GWAS1260827 (human)0.000009lipid measurementblood lipid measurement (CMO:0000050)173406742234067423Human
597160157GWAS1256231_Hlipid measurement QTL GWAS1256231 (human)0.0000003lipid measurementblood lipid measurement (CMO:0000050)173407295534072956Human
597212887GWAS1308961_Hself reported educational attainment QTL GWAS1308961 (human)2e-08self reported educational attainment173328743633287437Human
406989330GWAS638306_Hunipolar depression QTL GWAS638306 (human)0.0000003unipolar depression173339914433399145Human
597333198GWAS1429272_HS-6-hydroxywarfarin to S-warfarin ratio measurement QTL GWAS1429272 (human)9e-08S-6-hydroxywarfarin to S-warfarin ratio measurement173364692333646924Human
597321165GWAS1417239_Hsmoking initiation QTL GWAS1417239 (human)9e-14smoking initiation173329171433291715Human
597078478GWAS1174552_Hbilirubin measurement QTL GWAS1174552 (human)0.000001bilirubin measurementserum total bilirubin level (CMO:0000376)173372920733729208Human
597151181GWAS1247255_Hosteoarthritis, hand QTL GWAS1247255 (human)0.000009osteoarthritis, hand173323825133238252Human
597151180GWAS1247254_Hosteoarthritis, hand QTL GWAS1247254 (human)0.00001osteoarthritis, hand173323817933238180Human
597156556GWAS1252630_Hphospholipids:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1252630 (human)3e-08phospholipids:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)173378564533785646Human
597338618GWAS1434692_Hbody mass index QTL GWAS1434692 (human)9e-09body mass indexbody mass index (BMI) (CMO:0000105)173347290833472909Human
597294841GWAS1390915_Hcardiac troponin I measurement QTL GWAS1390915 (human)0.000005cardiac troponin I measurementblood troponin level (CMO:0001283)173370832533708326Human
597055730GWAS1151804_Hquality of life during menstruation measurement QTL GWAS1151804 (human)0.0000005quality of life during menstruation measurement173322751533227516Human
597053683GWAS1149757_Hintelligence QTL GWAS1149757 (human)0.000002intelligence173303669633036697Human
597224701GWAS1320775_Hpneumonia, COVID-19 QTL GWAS1320775 (human)0.0000007pneumonia, COVID-19173344684533446846Human
597226238GWAS1322312_Hchronotype measurement QTL GWAS1322312 (human)3e-08chronotype measurement173329818233298183Human
597344253GWAS1440327_Hcolor vision disorder QTL GWAS1440327 (human)0.0000004color vision disorder173356508933565090Human
597272817GWAS1368891_HX-12063 measurement QTL GWAS1368891 (human)1e-09X-12063 measurement173310942233109423Human
597235440GWAS1331514_Hmajor depressive disorder QTL GWAS1331514 (human)0.0000003major depressive disorder173321469933214700Human
597321718GWAS1417792_Hresponse to COVID-19 vaccine, SARS-CoV-2 neutralizing antibody measurement QTL GWAS1417792 (human)0.0000004response to COVID-19 vaccine, SARS-CoV-2 neutralizing antibody measurementblood anti-SARS-CoV-2 antibody level (CMO:0003966)173361567333615674Human
406971182GWAS620158_Hsporadic amyotrophic lateral sclerosis QTL GWAS620158 (human)0.000004sporadic amyotrophic lateral sclerosis173333831033338311Human
597202167GWAS1298241_Hbone density QTL GWAS1298241 (human)5e-11bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)173404366734043668Human
407028786GWAS677762_HCCL2 measurement QTL GWAS677762 (human)0.000004CCL2 measurement173306668433066685Human
597061349GWAS1157423_Hreaction time measurement QTL GWAS1157423 (human)0.000005reaction time measurement173397327333973274Human
596973536GWAS1093055_Hmajor depressive disorder QTL GWAS1093055 (human)2e-10major depressive disorder173321856533218566Human
597111265GWAS1207339_Hmathematical ability QTL GWAS1207339 (human)5e-14mathematical ability173328547633285477Human
597124842GWAS1220916_Hheart septal defect QTL GWAS1220916 (human)7e-08heart septal defect173395954533959546Human
407144761GWAS793737_HPR interval QTL GWAS793737 (human)0.0000001PR intervalPR interval (CMO:0000233)173397940433979405Human
597317349GWAS1413423_Hbody mass index QTL GWAS1413423 (human)6e-11body mass indexbody mass index (BMI) (CMO:0000105)173314643733146438Human
597062428GWAS1158502_HGingival bleeding QTL GWAS1158502 (human)4e-08Gingival bleeding173364346433643465Human
597162781GWAS1258855_Harginine measurement QTL GWAS1258855 (human)0.000006arginine measurement173409450134094502Human
597180694GWAS1276768_Hpyruvate measurement QTL GWAS1276768 (human)2e-08pyruvate measurementblood pyruvate level (CMO:0002422)173374659333746594Human
596989956GWAS1109475_Hbody mass index QTL GWAS1109475 (human)2e-11body mass indexbody mass index (BMI) (CMO:0000105)173313725233137253Human
597221902GWAS1317976_Hrespiratory symptom measurement, COVID-19 QTL GWAS1317976 (human)0.0000008respiratory symptom measurement, COVID-19respiratory system measurement (CMO:0000094)173344684533446846Human
597336064GWAS1432138_HCOVID-19 QTL GWAS1432138 (human)0.000005COVID-19173339094633390947Human
597291525GWAS1387599_Hbody mass index QTL GWAS1387599 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)173391023933910240Human
407145944GWAS794920_HQT interval QTL GWAS794920 (human)0.000009QT intervalQT interval (CMO:0000235)173409568034095681Human
597133834GWAS1229908_Hbody height QTL GWAS1229908 (human)7e-08body height (VT:0001253)body height (CMO:0000106)173330533933305340Human
597031434GWAS1127508_Hsmoking initiation QTL GWAS1127508 (human)1e-08smoking initiation173321212533212126Human
597320965GWAS1417039_Hsmoking initiation QTL GWAS1417039 (human)1e-11smoking initiation173322342533223426Human
597109046GWAS1205120_Hself reported educational attainment QTL GWAS1205120 (human)4e-11self reported educational attainment173328743633287437Human
597225273GWAS1321347_Hchronotype measurement QTL GWAS1321347 (human)3e-08chronotype measurement173329886933298870Human
597128246GWAS1224320_Hpneumonia QTL GWAS1224320 (human)0.000002pneumonia173396400133964002Human
597240381GWAS1336455_Heducational attainment QTL GWAS1336455 (human)4e-08educational attainment173328279733282798Human
597206832GWAS1302906_Hmajor depressive disorder QTL GWAS1302906 (human)0.0000003major depressive disorder173339914433399145Human
406977771GWAS626747_Hamyloid-beta measurement QTL GWAS626747 (human)0.000006amyloid-beta measurement173369835133698352Human
597036602GWAS1132676_Hbody mass index QTL GWAS1132676 (human)8e-12body mass indexbody mass index (BMI) (CMO:0000105)173314852733148528Human
597208375GWAS1304449_Hmathematical ability QTL GWAS1304449 (human)4e-08mathematical ability173329232733292328Human
407110123GWAS759099_Hbody height QTL GWAS759099 (human)2e-08body height (VT:0001253)body height (CMO:0000106)173332320533323206Human
597194540GWAS1290614_Hbody mass index QTL GWAS1290614 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)173310611133106112Human
597056803GWAS1152877_Hmetabolic syndrome QTL GWAS1152877 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)173313388133133882Human
597194541GWAS1290615_Hbody mass index QTL GWAS1290615 (human)4e-12body mass indexbody mass index (BMI) (CMO:0000105)173313388133133882Human
596966434GWAS1085953_Hbody mass index QTL GWAS1085953 (human)6e-11body mass indexbody mass index (BMI) (CMO:0000105)173314643733146438Human
597194542GWAS1290616_Hbody mass index QTL GWAS1290616 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)173342216833422169Human
597510187GWAS1606261_Hprotein measurement QTL GWAS1606261 (human)2e-08protein measurement173352060733520608Human
597194543GWAS1290617_Hbody mass index QTL GWAS1290617 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)173393900433939005Human
597110103GWAS1206177_Hmathematical ability QTL GWAS1206177 (human)2e-15mathematical ability173328743633287437Human
407126404GWAS775380_Hcoronary artery disease QTL GWAS775380 (human)0.000006coronary artery disease173396043033960431Human
597336408GWAS1432482_HCOVID-19 QTL GWAS1432482 (human)0.000006COVID-19173339094633390947Human
597223003GWAS1319077_Hmajor depressive disorder QTL GWAS1319077 (human)2e-09major depressive disorder173321469933214700Human
597402462GWAS1498536_Hthalamus volume change measurement QTL GWAS1498536 (human)0.000006thalamus volume change measurement173352067433520675Human
597080923GWAS1176997_Hgut microbiome measurement QTL GWAS1176997 (human)0.000005gut microbiome measurement173384232633842327Human
407046803GWAS695779_Hbody mass index QTL GWAS695779 (human)3e-11body mass indexbody mass index (BMI) (CMO:0000105)173314643733146438Human
597356363GWAS1452437_Hbody height QTL GWAS1452437 (human)9e-22body height (VT:0001253)body height (CMO:0000106)173326573233265733Human
597108804GWAS1204878_Hparathyroid hormone measurement QTL GWAS1204878 (human)0.000002parathyroid hormone measurementblood parathyroid hormone level (CMO:0002961)173346869833468699Human
597356364GWAS1452438_Hbody height QTL GWAS1452438 (human)3e-33body height (VT:0001253)body height (CMO:0000106)173329114633291147Human
597029699GWAS1125773_Hresponse to angiotensin-converting enzyme inhibitor QTL GWAS1125773 (human)0.0000007response to angiotensin-converting enzyme inhibitor173356842933568430Human
597107535GWAS1203609_Hcerebral white matter volume change measurement QTL GWAS1203609 (human)0.000001cerebral white matter volume change measurement173343112033431121Human
597335878GWAS1431952_HCOVID-19 QTL GWAS1431952 (human)0.000002COVID-19173339094633390947Human
597327175GWAS1423249_Hcolor vision disorder QTL GWAS1423249 (human)0.000005color vision disorder173336043133360432Human
597022283GWAS1118357_Hinterleukin 16 measurement QTL GWAS1118357 (human)0.000004interleukin 16 measurement173315621533156216Human
407356839GWAS1005815_Hunipolar depression QTL GWAS1005815 (human)2e-09unipolar depression173321469933214700Human
597339770GWAS1435844_Hpuberty onset measurement QTL GWAS1435844 (human)2e-08puberty onset measurement173414713034147131Human
597117558GWAS1213632_Hresponse to supplemental oxygen QTL GWAS1213632 (human)0.000003response to supplemental oxygen173312840733128408Human
597301374GWAS1397448_Hcarotid artery intima media thickness QTL GWAS1397448 (human)0.000002carotid artery intima media thickness173332188833321889Human
596972401GWAS1091920_Hmajor depressive disorder QTL GWAS1091920 (human)0.0000003major depressive disorder173339914433399145Human
597394303GWAS1490377_Hvisual perception measurement QTL GWAS1490377 (human)4e-08visual perception measurement173383448333834484Human
596953459GWAS1072978_Hbody mass index QTL GWAS1072978 (human)3e-09body mass indexbody mass index (BMI) (CMO:0000105)173391023933910240Human
597093758GWAS1189832_H3-hydroxy-1-methylpropylmercapturic acid measurement QTL GWAS1189832 (human)0.0000013-hydroxy-1-methylpropylmercapturic acid measurement173315886233158863Human
597273456GWAS1369530_Heducational attainment QTL GWAS1369530 (human)4e-09educational attainment173413434534134346Human
597027711GWAS1123785_Hcerebellar cortex volume measurement QTL GWAS1123785 (human)0.000002cerebellar cortex volume measurement173337540433375405Human
597188724GWAS1284798_Hmajor depressive disorder QTL GWAS1284798 (human)2e-10major depressive disorder173321856533218566Human
597147769GWAS1243843_Hbody mass index QTL GWAS1243843 (human)4e-08body mass indexbody mass index (BMI) (CMO:0000105)173389414433894145Human
597115000GWAS1211074_Hpolycystic ovary syndrome QTL GWAS1211074 (human)0.000008polycystic ovary syndrome173305329333053294Human
597036642GWAS1132716_Hbody mass index QTL GWAS1132716 (human)2e-09body mass indexbody mass index (BMI) (CMO:0000105)173392056633920567Human
1298406BP16_HBlood pressure QTL 16 (human)0.0004Blood pressurehypertension susceptibility171477864740778647Human
597273455GWAS1369529_Heducational attainment QTL GWAS1369529 (human)2e-19educational attainment173328279733282798Human
597254754GWAS1350828_Hurate measurement, bone density QTL GWAS1350828 (human)1e-09bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)173334632633346327Human
407124415GWAS773391_Hhypothyroidism QTL GWAS773391 (human)0.000007hypothyroidism173413713534137136Human
597292644GWAS1388718_Hbody mass index QTL GWAS1388718 (human)2e-11body mass indexbody mass index (BMI) (CMO:0000105)173313725233137253Human
597159785GWAS1255859_Hlipid measurement QTL GWAS1255859 (human)0.000009lipid measurementblood lipid measurement (CMO:0000050)173407295534072956Human

Markers in Region
D17S1540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,371,190 - 31,371,372UniSTSGRCh37
Build 361728,395,303 - 28,395,485RGDNCBI36
Celera1728,282,129 - 28,282,311RGD
Cytogenetic Map17q12UniSTS
HuRef1727,556,525 - 27,556,707UniSTS
Marshfield Genetic Map1754.17UniSTS
Marshfield Genetic Map1754.17RGD
deCODE Assembly Map1755.6UniSTS
D17S1850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,137,730 - 32,137,997UniSTSGRCh37
Build 361729,161,843 - 29,162,110RGDNCBI36
Celera1729,048,442 - 29,048,709RGD
Cytogenetic Map17q12UniSTS
HuRef1728,322,828 - 28,323,095UniSTS
Marshfield Genetic Map1755.33RGD
Marshfield Genetic Map1755.33UniSTS
Genethon Genetic Map1755.0UniSTS
D17S2194  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,952,129 - 31,952,333UniSTSGRCh37
Build 361728,976,242 - 28,976,446RGDNCBI36
Celera1728,862,865 - 28,863,069RGD
Cytogenetic Map17q12UniSTS
HuRef1728,137,366 - 28,137,570UniSTS
Marshfield Genetic Map1754.17UniSTS
deCODE Assembly Map1757.43UniSTS
RH76641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,476,697 - 32,476,793UniSTSGRCh37
Build 361729,500,810 - 29,500,906RGDNCBI36
Celera1729,388,152 - 29,388,248RGD
Cytogenetic Map17q12UniSTS
HuRef1728,662,017 - 28,662,113UniSTS
RH92493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,445,393 - 32,445,529UniSTSGRCh37
Build 361729,469,506 - 29,469,642RGDNCBI36
Celera1729,356,882 - 29,357,018RGD
Cytogenetic Map17q12UniSTS
HuRef1728,630,745 - 28,630,881UniSTS
GeneMap99-GB4 RH Map17287.3UniSTS
RH28431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,371,285 - 32,371,377UniSTSGRCh37
Build 361729,395,398 - 29,395,490RGDNCBI36
Celera1729,282,864 - 29,282,956RGD
Cytogenetic Map17q12UniSTS
HuRef1728,556,745 - 28,556,837UniSTS
RH67569  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,363,900 - 32,364,023UniSTSGRCh37
GRCh371760,690,551 - 60,690,674UniSTSGRCh37
Build 361729,388,013 - 29,388,136RGDNCBI36
Celera1729,275,475 - 29,275,598RGD
Celera1755,078,453 - 55,078,576UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map17q23UniSTS
HuRef1728,549,366 - 28,549,489UniSTS
HuRef1756,057,622 - 56,057,745UniSTS
RH93845  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,857,099 - 31,857,220UniSTSGRCh37
Build 361728,881,212 - 28,881,333RGDNCBI36
Celera1728,767,808 - 28,767,929RGD
Cytogenetic Map17q12UniSTS
HuRef1728,042,315 - 28,042,436UniSTS
GeneMap99-GB4 RH Map17283.54UniSTS
SHGC-81279  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,394,527 - 31,394,823UniSTSGRCh37
Build 361728,418,640 - 28,418,936RGDNCBI36
Celera1728,305,463 - 28,305,759RGD
Cytogenetic Map17q12UniSTS
HuRef1727,579,863 - 27,580,159UniSTS
TNG Radiation Hybrid Map1713183.0UniSTS
SHGC-84158  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,570,296 - 31,570,641UniSTSGRCh37
Build 361728,594,409 - 28,594,754RGDNCBI36
Celera1728,481,192 - 28,481,537RGD
Cytogenetic Map17q12UniSTS
HuRef1727,755,522 - 27,755,867UniSTS
TNG Radiation Hybrid Map1713266.0UniSTS
G49579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,065,349 - 32,065,454UniSTSGRCh37
Build 361729,089,462 - 29,089,567RGDNCBI36
Celera1728,976,082 - 28,976,187RGD
Cytogenetic Map17q12UniSTS
HuRef1728,250,606 - 28,250,711UniSTS
TNG Radiation Hybrid Map1713641.0UniSTS
RH122277  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,973,688 - 31,973,878UniSTSGRCh37
Build 361728,997,801 - 28,997,991RGDNCBI36
Celera1728,884,419 - 28,884,609RGD
Cytogenetic Map17q12UniSTS
HuRef1728,158,912 - 28,159,102UniSTS
TNG Radiation Hybrid Map1713602.0UniSTS
RH123189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,641,150 - 31,641,479UniSTSGRCh37
Build 361728,665,263 - 28,665,592RGDNCBI36
Celera1728,552,035 - 28,552,364RGD
Cytogenetic Map17q12UniSTS
HuRef1727,826,256 - 27,826,585UniSTS
TNG Radiation Hybrid Map1713339.0UniSTS
G42370  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,518,849 - 31,519,207UniSTSGRCh37
Build 361728,542,962 - 28,543,320RGDNCBI36
Celera1728,429,794 - 28,430,152RGD
Cytogenetic Map17q12UniSTS
HuRef1727,704,195 - 27,704,553UniSTS
G62513  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,267,906 - 32,268,190UniSTSGRCh37
Build 361729,292,019 - 29,292,303RGDNCBI36
Celera1729,178,603 - 29,178,887RGD
Cytogenetic Map17q12UniSTS
HuRef1728,453,210 - 28,453,494UniSTS
TNG Radiation Hybrid Map1715082.0UniSTS
G62594  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,294,956 - 32,295,243UniSTSGRCh37
Build 361729,319,069 - 29,319,356RGDNCBI36
Celera1729,205,656 - 29,205,943RGD
Cytogenetic Map17q12UniSTS
HuRef1728,480,265 - 28,480,552UniSTS
TNG Radiation Hybrid Map1715060.0UniSTS
SHGC-106373  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,237,851 - 32,238,149UniSTSGRCh37
Build 361729,261,964 - 29,262,262RGDNCBI36
Celera1729,148,549 - 29,148,847RGD
Cytogenetic Map17q12UniSTS
HuRef1728,423,175 - 28,423,473UniSTS
TNG Radiation Hybrid Map1715117.0UniSTS
SHGC-145757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,251,384 - 32,251,709UniSTSGRCh37
Build 361729,275,497 - 29,275,822RGDNCBI36
Celera1729,162,083 - 29,162,408RGD
Cytogenetic Map17q12UniSTS
HuRef1728,436,693 - 28,437,018UniSTS
TNG Radiation Hybrid Map1715108.0UniSTS
SHGC-146075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,617,897 - 31,618,170UniSTSGRCh37
Build 361728,642,010 - 28,642,283RGDNCBI36
Celera1728,528,794 - 28,529,067RGD
Cytogenetic Map17q12UniSTS
HuRef1727,803,007 - 27,803,278UniSTS
TNG Radiation Hybrid Map1713316.0UniSTS
SHGC-147393  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,676,340 - 31,676,685UniSTSGRCh37
Build 361728,700,453 - 28,700,798RGDNCBI36
Celera1728,587,207 - 28,587,552RGD
Cytogenetic Map17q12UniSTS
HuRef1727,861,433 - 27,861,778UniSTS
TNG Radiation Hybrid Map1713355.0UniSTS
SHGC-153663  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,657,445 - 31,657,749UniSTSGRCh37
Build 361728,681,558 - 28,681,862RGDNCBI36
Celera1728,568,318 - 28,568,622RGD
Cytogenetic Map17q12UniSTS
HuRef1727,842,540 - 27,842,844UniSTS
TNG Radiation Hybrid Map1713349.0UniSTS
SHGC-154446  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,938,424 - 31,938,764UniSTSGRCh37
Build 361728,962,537 - 28,962,877RGDNCBI36
Celera1728,849,161 - 28,849,501RGD
Cytogenetic Map17q12UniSTS
HuRef1728,123,661 - 28,124,001UniSTS
TNG Radiation Hybrid Map1713575.0UniSTS
SHGC-153682  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,775,326 - 31,775,654UniSTSGRCh37
Build 361728,799,439 - 28,799,767RGDNCBI36
Celera1728,686,182 - 28,686,510RGD
Cytogenetic Map17q12UniSTS
HuRef1727,960,413 - 27,960,741UniSTS
TNG Radiation Hybrid Map1713421.0UniSTS
SHGC-154441  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,414,961 - 31,415,282UniSTSGRCh37
Build 361728,439,074 - 28,439,395RGDNCBI36
Celera1728,325,904 - 28,326,225RGD
Cytogenetic Map17q12UniSTS
HuRef1727,600,303 - 27,600,624UniSTS
TNG Radiation Hybrid Map1713204.0UniSTS
SHGC-155068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,599,955 - 31,600,289UniSTSGRCh37
Build 361728,624,068 - 28,624,402RGDNCBI36
Celera1728,510,854 - 28,511,188RGD
Cytogenetic Map17q12UniSTS
HuRef1727,785,076 - 27,785,410UniSTS
TNG Radiation Hybrid Map1713276.0UniSTS
SHGC-156229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,806,403 - 31,806,673UniSTSGRCh37
Build 361728,830,516 - 28,830,786RGDNCBI36
Celera1728,717,180 - 28,717,450RGD
Cytogenetic Map17q12UniSTS
HuRef1727,991,489 - 27,991,759UniSTS
TNG Radiation Hybrid Map1713437.0UniSTS
SHGC-173267  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,135,636 - 32,135,921UniSTSGRCh37
Build 361729,159,749 - 29,160,034RGDNCBI36
Celera1729,046,348 - 29,046,633RGD
Cytogenetic Map17q12UniSTS
HuRef1728,320,734 - 28,321,019UniSTS
TNG Radiation Hybrid Map1713680.0UniSTS
D17S1316  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,180,076 - 32,180,178UniSTSGRCh37
Build 361729,204,189 - 29,204,291RGDNCBI36
Celera1729,090,788 - 29,090,890RGD
Cytogenetic Map17q12UniSTS
HuRef1728,365,186 - 28,365,288UniSTS
D17S1694  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,170,417 - 32,170,544UniSTSGRCh37
Build 361729,194,530 - 29,194,657RGDNCBI36
Celera1729,081,129 - 29,081,256RGD
Cytogenetic Map17q12UniSTS
HuRef1728,355,547 - 28,355,674UniSTS
Whitehead-RH Map17301.7UniSTS
FB6F10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,451,139 - 32,451,368UniSTSGRCh37
Build 361729,475,252 - 29,475,481RGDNCBI36
Celera1729,362,617 - 29,362,846RGD
Cytogenetic Map17q12UniSTS
HuRef1728,636,478 - 28,636,707UniSTS
Whitehead-RH Map17299.2UniSTS
TLK2_8170  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371760,689,815 - 60,690,730UniSTSGRCh37
GRCh371732,363,844 - 32,364,751UniSTSGRCh37
Build 361729,387,957 - 29,388,864RGDNCBI36
Celera1755,077,717 - 55,078,632UniSTS
Celera1729,275,419 - 29,276,326RGD
HuRef1756,056,886 - 56,057,801UniSTS
HuRef1728,549,310 - 28,550,217UniSTS
AB056819  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,578,912 - 31,579,014UniSTSGRCh37
Build 361728,603,025 - 28,603,127RGDNCBI36
Celera1728,489,810 - 28,489,912RGD
HuRef1727,764,140 - 27,764,242UniSTS
STS-AA019851  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,041,948 - 32,042,180UniSTSGRCh37
Build 361729,066,061 - 29,066,293RGDNCBI36
Celera1728,952,669 - 28,952,913RGD
Cytogenetic Map17q12UniSTS
HuRef1728,227,186 - 28,227,439UniSTS
GeneMap99-GB4 RH Map17296.56UniSTS
RH66290  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,451,236 - 32,451,358UniSTSGRCh37
Build 361729,475,349 - 29,475,471RGDNCBI36
Celera1729,362,714 - 29,362,836RGD
Cytogenetic Map17q12UniSTS
HuRef1728,636,575 - 28,636,697UniSTS
GeneMap99-GB4 RH Map17287.37UniSTS
G09898  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,880,476 - 31,880,566UniSTSGRCh37
Build 361728,904,589 - 28,904,679RGDNCBI36
Celera1728,791,184 - 28,791,277RGD
Cytogenetic Map17q12UniSTS
HuRef1728,065,701 - 28,065,794UniSTS
D17S1656  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,535,450 - 31,535,614UniSTSGRCh37
Build 361728,559,563 - 28,559,727RGDNCBI36
Celera1728,446,347 - 28,446,511RGD
Cytogenetic Map17q12UniSTS
HuRef1727,720,744 - 27,720,908UniSTS
Whitehead-YAC Contig Map17 UniSTS
G09780  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,880,294 - 31,880,565UniSTSGRCh37
Build 361728,904,407 - 28,904,678RGDNCBI36
Celera1728,790,998 - 28,791,276RGD
Cytogenetic Map17q12UniSTS
HuRef1728,065,515 - 28,065,793UniSTS
RH48684  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,232,184 - 32,232,368UniSTSGRCh37
Build 361729,256,297 - 29,256,481RGDNCBI36
Celera1729,142,882 - 29,143,066RGD
Cytogenetic Map17q12UniSTS
HuRef1728,417,507 - 28,417,691UniSTS
GeneMap99-GB4 RH Map17287.37UniSTS
G28628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,798,749 - 31,799,018UniSTSGRCh37
Build 361728,822,862 - 28,823,131RGDNCBI36
Celera1728,709,528 - 28,709,797RGD
Cytogenetic Map17q12UniSTS
HuRef1727,983,847 - 27,984,116UniSTS
D17S2139  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,890,544 - 31,890,674UniSTSGRCh37
Build 361728,914,657 - 28,914,787RGDNCBI36
Celera1728,801,254 - 28,801,384RGD
Cytogenetic Map17q12UniSTS
HuRef1728,075,763 - 28,075,893UniSTS
TNG Radiation Hybrid Map1713525.0UniSTS
Stanford-G3 RH Map171288.0UniSTS
NCBI RH Map17352.2UniSTS
G72125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,007,103 - 32,007,406UniSTSGRCh37
Build 361729,031,216 - 29,031,519RGDNCBI36
Celera1728,917,830 - 28,918,133RGD
Cytogenetic Map17q12UniSTS
HuRef1728,192,327 - 28,192,630UniSTS
G72118  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371732,119,119 - 32,119,570UniSTSGRCh37
Build 361729,143,232 - 29,143,683RGDNCBI36
Celera1729,029,851 - 29,030,302RGD
Cytogenetic Map17q12UniSTS
HuRef1728,304,375 - 28,304,826UniSTS
G72122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,951,155 - 31,951,355UniSTSGRCh37
Build 361728,975,268 - 28,975,468RGDNCBI36
Celera1728,861,891 - 28,862,091RGD
Cytogenetic Map17q12UniSTS
HuRef1728,136,392 - 28,136,592UniSTS
G72120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,982,328 - 31,982,577UniSTSGRCh37
Build 361729,006,441 - 29,006,690RGDNCBI36
Celera1728,893,059 - 28,893,308RGD
Cytogenetic Map17q12UniSTS
HuRef1728,167,552 - 28,167,801UniSTS
G72117  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,892,694 - 31,893,114UniSTSGRCh37
Build 361728,916,807 - 28,917,227RGDNCBI36
Celera1728,803,405 - 28,803,825RGD
Cytogenetic Map17q12UniSTS
HuRef1728,077,914 - 28,078,334UniSTS
G72124  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,845,445 - 31,845,596UniSTSGRCh37
Build 361728,869,558 - 28,869,709RGDNCBI36
Celera1728,756,132 - 28,756,283RGD
Cytogenetic Map17q12UniSTS
HuRef1728,030,649 - 28,030,800UniSTS
G72121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,930,338 - 31,930,488UniSTSGRCh37
Build 361728,954,451 - 28,954,601RGDNCBI36
Celera1728,841,062 - 28,841,212RGD
Cytogenetic Map17q12UniSTS
HuRef1728,115,568 - 28,115,718UniSTS
G72123  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,844,023 - 31,844,504UniSTSGRCh37
Build 361728,868,136 - 28,868,617RGDNCBI36
Celera1728,754,709 - 28,755,190RGD
Cytogenetic Map17q12UniSTS
HuRef1728,029,227 - 28,029,708UniSTS
G72119  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371731,887,350 - 31,887,600UniSTSGRCh37
Build 361728,911,463 - 28,911,713RGDNCBI36
Celera1728,798,062 - 28,798,312RGD
Cytogenetic Map17q12UniSTS
HuRef1728,072,571 - 28,072,821UniSTS
G32877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371760,690,551 - 60,690,674UniSTSGRCh37
GRCh371732,363,900 - 32,364,023UniSTSGRCh37
Celera1729,275,475 - 29,275,598UniSTS
Celera1755,078,453 - 55,078,576UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map17q23UniSTS
HuRef1728,549,366 - 28,549,489UniSTS
HuRef1756,057,622 - 56,057,745UniSTS


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
866 2053 2192 1776 4745 1160 1571 1 319 513 174 1866 4353 4102 30 3679 712 1584 1146 154 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_183377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC003687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC004147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC008133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC011824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC015751 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC078907 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC123769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U50352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U53212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U57352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000225823   ⟹   ENSP00000225823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1733,013,087 - 33,293,295 (-)Ensembl
Ensembl Acc Id: ENST00000359872   ⟹   ENSP00000352934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1733,013,087 - 34,157,294 (-)Ensembl
Ensembl Acc Id: ENST00000448983
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1733,023,865 - 33,291,441 (-)Ensembl
Ensembl Acc Id: ENST00000579816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1733,111,941 - 33,291,107 (-)Ensembl
Ensembl Acc Id: ENST00000583395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1734,157,181 - 34,174,964 (-)Ensembl
RefSeq Acc Id: NM_001094   ⟹   NP_001085
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381733,013,087 - 34,156,768 (-)NCBI
GRCh371731,340,105 - 32,483,825 (-)ENTREZGENE
Build 361728,364,218 - 29,507,938 (-)NCBI Archive
HuRef1727,525,463 - 27,805,119 (-)ENTREZGENE
HuRef1728,668,308 - 28,669,144 (-)NCBI
CHM1_11731,403,273 - 32,547,482 (-)NCBI
T2T-CHM13v2.01733,959,166 - 35,103,157 (-)NCBI
Sequence:
RefSeq Acc Id: NM_183377   ⟹   NP_899233
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381733,013,087 - 33,293,295 (-)NCBI
GRCh371731,340,105 - 32,483,825 (-)ENTREZGENE
Build 361728,364,218 - 28,644,119 (-)NCBI Archive
HuRef1727,525,463 - 27,805,119 (-)ENTREZGENE
CHM1_11731,403,273 - 31,683,166 (-)NCBI
T2T-CHM13v2.01733,959,166 - 34,239,219 (-)NCBI
Sequence:
RefSeq Acc Id: NP_899233   ⟸   NM_183377
- Peptide Label: isoform MDEG2
- UniProtKB: B3KXQ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001085   ⟸   NM_001094
- Peptide Label: isoform MDEG1
- UniProtKB: Q16515 (UniProtKB/Swiss-Prot),   Q6DJU1 (UniProtKB/Swiss-Prot),   Q13553 (UniProtKB/Swiss-Prot),   E9PBX2 (UniProtKB/Swiss-Prot),   Q8N3E2 (UniProtKB/Swiss-Prot),   B2R7M8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000352934   ⟸   ENST00000359872
Ensembl Acc Id: ENSP00000225823   ⟸   ENST00000225823

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16515-F1-model_v2 AlphaFold Q16515 1-512 view protein structure

Promoters
RGD ID:7234579
Promoter ID:EPDNEW_H23035
Type:initiation region
Name:ASIC2_2
Description:acid sensing ion channel subunit 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23036  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381734,157,211 - 34,157,271EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:99 AgrOrtholog
COSMIC ASIC2 COSMIC
Ensembl Genes ENSG00000108684 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000225823 ENTREZGENE
  ENST00000225823.7 UniProtKB/Swiss-Prot
  ENST00000359872 ENTREZGENE
  ENST00000359872.6 UniProtKB/Swiss-Prot
Gene3D-CATH acid-sensing ion channel 1 domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acid-sensing ion channel domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Acid-sensing ion channels like domains UniProtKB/TrEMBL
  YojJ-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000108684 GTEx
HGNC ID HGNC:99 ENTREZGENE
Human Proteome Map ASIC2 Human Proteome Map
InterPro ENaC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENaC_chordates UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENaC_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:40 UniProtKB/Swiss-Prot
NCBI Gene 40 ENTREZGENE
OMIM 601784 OMIM
PANTHER ACID-SENSING ION CHANNEL 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AMILORIDE-SENSITIVE SODIUM CHANNEL-RELATED UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
Pfam ASC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA24433 PharmGKB
PRINTS AMINACHANNEL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ASC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt ASIC2_HUMAN UniProtKB/Swiss-Prot
  B2R7M8 ENTREZGENE, UniProtKB/TrEMBL
  B3KXQ3 ENTREZGENE, UniProtKB/TrEMBL
  E9PBX2 ENTREZGENE
  Q13553 ENTREZGENE
  Q16515 ENTREZGENE
  Q6DJU1 ENTREZGENE
  Q8N3E2 ENTREZGENE
UniProt Secondary E9PBX2 UniProtKB/Swiss-Prot
  Q13553 UniProtKB/Swiss-Prot
  Q6DJU1 UniProtKB/Swiss-Prot
  Q8N3E2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-22 ASIC2  acid sensing ion channel subunit 2  ASIC2  acid sensing ion channel 2  Symbol and/or name change 5135510 APPROVED
2015-12-08 ASIC2  acid sensing ion channel 2  ASIC2  acid sensing (proton gated) ion channel 2  Symbol and/or name change 5135510 APPROVED
2015-01-20 ASIC2  acid sensing (proton gated) ion channel 2  ASIC2  acid-sensing (proton-gated) ion channel 2  Symbol and/or name change 5135510 APPROVED
2012-03-01 ASIC2  acid-sensing (proton-gated) ion channel 2  ACCN1  amiloride-sensitive cation channel 1, neuronal  Symbol and/or name change 5135510 APPROVED