ASIC2 (acid sensing ion channel subunit 2)

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 plasma 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

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Asic2 (acid-sensing ion channel 2)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Asic2 (acid sensing ion channel subunit 2)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther
Chinchilla lanigera (long-tailed chinchilla):	Asic2 (acid sensing ion channel subunit 2)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ASIC2 (acid sensing ion channel subunit 2)	NCBI	Ortholog
Canis lupus familiaris (dog):	ASIC2 (acid sensing ion channel subunit 2)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Asic2 (acid sensing ion channel subunit 2)	NCBI	Ortholog
Sus scrofa (pig):	ASIC2 (acid sensing ion channel subunit 2)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	ASIC2 (acid sensing ion channel subunit 2)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Asic2 (acid sensing ion channel subunit 2)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Asic1 (acid sensing ion channel subunit 1)	HGNC	OrthoDB
Mus musculus (house mouse):	Asic1 (acid-sensing ion channel 1)	HGNC	OrthoDB
Canis lupus familiaris (dog):	ASIC1 (acid sensing ion channel subunit 1)	HGNC	OrthoDB
Rattus norvegicus (Norway rat):	Pttg1 (PTTG1 regulator of sister chromatid separation, securin)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Asic2 (acid sensing ion channel subunit 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Asic2 (acid-sensing ion channel 2)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Danio rerio (zebrafish):	asic2 (acid-sensing (proton-gated) ion channel 2)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	acd-2	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)
Caenorhabditis elegans (roundworm):	acd-4	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)
Caenorhabditis elegans (roundworm):	delm-2	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)
Caenorhabditis elegans (roundworm):	flr-1	Alliance	DIOPT (OMA\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	ppk	Alliance	DIOPT (InParanoid\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	ppk12	Alliance	DIOPT (Ensembl Compara\|OMA\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	ppk28	Alliance	DIOPT (Ensembl Compara\|InParanoid\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	delm-1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)
Drosophila melanogaster (fruit fly):	ppk8	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoInspector\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	ppk26	Alliance	DIOPT (InParanoid\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	rpk	Alliance	DIOPT (InParanoid\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	ppk16	Alliance	DIOPT (Ensembl Compara\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	ppk5	Alliance	DIOPT (Ensembl Compara\|PANTHER\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Nach	Alliance	DIOPT (Ensembl Compara\|OMA\|PANTHER)
Drosophila melanogaster (fruit fly):	ppk21	Alliance	DIOPT (OMA\|PANTHER\|SonicParanoid)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	33,013,087 - 34,156,768 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	33,013,087 - 34,174,964 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	31,340,105 - 32,483,787 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	28,364,218 - 29,507,938 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	28,364,220 - 28,644,119	NCBI
Celera	17	28,251,041 - 29,395,277 (-)	NCBI		Celera
Cytogenetic Map	17	q11.2-q12	NCBI
HuRef	17	28,668,308 - 28,669,144 (-)	NCBI		HuRef
HuRef	17	27,525,463 - 27,805,119 (-)	NCBI		HuRef
CHM1_1	17	31,403,273 - 32,547,482 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	33,959,166 - 35,103,157 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (EXP)

genetic disease (IAGP)

Inflammation (EXP)

Neurodevelopmental Disorders (IAGP)

prostate cancer (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-pilocarpine (ISO)

(+)-schisandrin B (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (ISO)

2,2',4,4',5,5'-hexachlorobiphenyl (ISO)

2,2',5,5'-tetrachlorobiphenyl (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

4,4'-sulfonyldiphenol (EXP,ISO)

6-propyl-2-thiouracil (ISO)

acetylsalicylic acid (ISO)

aflatoxin B1 (EXP)

all-trans-retinoic acid (EXP)

ammonium chloride (ISO)

amphetamine (ISO)

arsane (EXP)

arsenic atom (EXP)

arsenite(3-) (EXP)

ATP (ISO)

atrazine (ISO)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

cadmium atom (ISO)

cadmium dichloride (ISO)

CGP 52608 (EXP)

choline (ISO)

dexamethasone (ISO)

diazinon (ISO)

diclofenac (ISO)

disodium selenite (EXP)

dorsomorphin (EXP)

fenvalerate (ISO)

folic acid (EXP,ISO)

fulvestrant (EXP)

glyphosate (ISO)

ibuprofen (ISO)

indinavir (ISO)

L-methionine (ISO)

lamivudine (ISO)

methapyrilene (EXP)

methotrexate (EXP)

methoxychlor (ISO)

nickel dichloride (ISO)

PCB138 (ISO)

phenylmercury acetate (EXP)

Ptaquiloside (ISO)

saquinavir (ISO)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

tetrachloromethane (ISO)

triclosan (EXP)

vinclozolin (ISO)

zidovudine (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular response to acidic pH (IEA,ISO)

cellular response to xenobiotic stimulus (IEA,ISO)

central nervous system development (TAS)

chemical synaptic transmission (TAS)

detection of mechanical stimulus involved in sensory perception (IEA,ISO)

establishment of localization in cell (IEA,ISO)

inorganic cation transmembrane transport (IEA,TAS)

monoatomic cation transport (IEA,ISO)

monoatomic ion transmembrane transport (IEA,ISO)

negative regulation of apoptotic process (IEA,ISO)

peripheral nervous system development (TAS)

phototransduction (IEA,ISO)

positive regulation of cation channel activity (ISO)

positive regulation of synapse assembly (IEA,ISO)

protein localization to synapse (IEA,ISO)

regulation of membrane potential (IEA,ISO)

regulation of monoatomic ion transmembrane transport (IEA,ISO)

regulation of postsynapse assembly (ISO)

regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback (IEA,ISO)

regulation of vasoconstriction (IEA,ISO)

response to acidic pH (IEA,ISO)

response to mechanical stimulus (IEA,ISO)

sensory perception of sound (IEA,ISO)

sensory perception of sour taste (IMP)

sodium ion transmembrane transport (IBA,IEA)

sodium ion transport (IEA,ISO)

synapse assembly (IEA,ISO)

Cellular Component

dendritic spine (IEA)

membrane (IEA)

neuron projection (IEA)

neuronal cell body (IEA)

plasma membrane (IBA,IEA,TAS)

postsynaptic density membrane (ISO)

synapse (IEA)

Molecular Function

ligand-gated sodium channel activity (IBA,IEA,TAS)

monoatomic cation channel activity (IEA)

monoatomic ion channel activity (IEA,ISO)

monoatomic ion-gated channel activity (IEA)

protein binding (IPI)

sodium channel activity (IEA)

voltage-gated sodium channel activity (IEA,ISO)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Prostate cancer (IAGP)

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	33,013,087 - 34,156,768 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	33,013,087 - 34,174,964 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	31,340,105 - 32,483,787 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	28,364,218 - 29,507,938 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	17	28,364,220 - 28,644,119	NCBI
Celera	17	28,251,041 - 29,395,277 (-)	NCBI		Celera
Cytogenetic Map	17	q11.2-q12	NCBI
HuRef	17	28,668,308 - 28,669,144 (-)	NCBI		HuRef
HuRef	17	27,525,463 - 27,805,119 (-)	NCBI		HuRef
CHM1_1	17	31,403,273 - 32,547,482 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	17	33,959,166 - 35,103,157 (-)	NCBI		T2T-CHM13v2.0

Asic2
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	80,770,989 - 81,859,222 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	80,770,995 - 81,859,283 (-)	Ensembl		GRCm39 Ensembl
GRCm38	11	80,880,163 - 81,968,396 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	80,880,169 - 81,968,457 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	80,693,667 - 81,781,898 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	80,696,367 - 80,969,098 (-)	NCBI		MGSCv36	mm8
Celera	11	90,519,426 - 91,581,630 (-)	NCBI		Celera
Cytogenetic Map	11	B5	NCBI
cM Map	11	48.43	NCBI

Asic2
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	66,368,308 - 67,438,237 (-)	NCBI		GRCr8
mRatBN7.2	10	65,870,592 - 66,940,577 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	65,870,594 - 66,940,424 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	70,498,595 - 71,562,027 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	70,003,921 - 71,067,382 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	65,464,793 - 66,528,510 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	68,247,800 - 69,347,223 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	68,248,655 - 68,517,564 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	67,915,396 - 68,982,618 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	69,103,244 - 70,190,305 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	10	69,117,480 - 69,386,966 (-)	NCBI
Celera	10	64,828,913 - 65,888,336 (-)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

Asic2
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955481	7,850,710 - 8,871,794 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955481	7,850,730 - 8,093,255 (-)	NCBI	ChiLan1.0	ChiLan1.0

ASIC2
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	19	30,308,759 - 31,455,007 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	33,056,767 - 33,336,170 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	22,628,322 - 23,774,249 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	22,921,267 - 24,066,151 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

ASIC2
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	39,082,465 - 40,084,612 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	39,082,806 - 40,083,842 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	38,308,412 - 39,243,743 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	39,899,729 - 40,900,560 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	39,900,070 - 40,900,561 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	38,685,696 - 39,686,492 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	38,974,406 - 39,980,826 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	39,054,053 - 40,055,731 (+)	NCBI		UU_Cfam_GSD_1.0

Asic2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405602	38,060,357 - 39,133,209 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936538	938,752 - 2,011,177 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936538	938,266 - 2,011,154 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ASIC2
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	12	41,727,002 - 42,031,991 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	12	41,726,987 - 42,031,997 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	12	43,445,298 - 43,633,460 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ASIC2
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	16	26,547,878 - 27,674,909 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666075	2,347,624 - 3,485,637 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Asic2
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624875	969,626 - 2,049,061 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624875	969,857 - 2,049,531 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ASIC2
77 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	Inborn genetic diseases [RCV003307204]	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
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	Inborn genetic diseases [RCV003253772]	Chr17:33292090 [GRCh38] Chr17:31619108 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.653T>C (p.Met218Thr)	single nucleotide variant	Inborn genetic diseases [RCV003253773]	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.1127T>C (p.Val376Ala)	single nucleotide variant	Inborn genetic diseases [RCV003012956]	Chr17:33028253 [GRCh38] Chr17:31355271 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.857C>G (p.Thr286Arg)	single nucleotide variant	Inborn genetic diseases [RCV002997814]	Chr17:33111919 [GRCh38] Chr17:31438937 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.1501C>T (p.Leu501Phe)	single nucleotide variant	Inborn genetic diseases [RCV002682335]	Chr17:33017625 [GRCh38] Chr17:31344643 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.519G>C (p.Glu173Asp)	single nucleotide variant	Inborn genetic diseases [RCV002686758]	Chr17:33291597 [GRCh38] Chr17:31618615 [GRCh37] Chr17:17q11.2	uncertain significance
NM_001094.5(ASIC2):c.245A>C (p.Gln82Pro)	single nucleotide variant	Inborn genetic diseases [RCV002981097]	Chr17:34156288 [GRCh38] Chr17:32483307 [GRCh37] Chr17:17q12	uncertain significance
NM_001094.5(ASIC2):c.437A>G (p.Tyr146Cys)	single nucleotide variant	Inborn genetic diseases [RCV002912144]	Chr17:34156096 [GRCh38] Chr17:32483115 [GRCh37] Chr17:17q12	uncertain significance
NM_183377.2(ASIC2):c.1610C>A (p.Pro537Gln)	single nucleotide variant	Inborn genetic diseases [RCV002707291]	Chr17:33014047 [GRCh38] Chr17:31341065 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.1651C>G (p.Leu551Val)	single nucleotide variant	Inborn genetic diseases [RCV002798564]	Chr17:33014006 [GRCh38] Chr17:31341024 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.691C>T (p.Pro231Ser)	single nucleotide variant	Inborn genetic diseases [RCV002713438]	Chr17:33291425 [GRCh38] Chr17:31618443 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.503G>A (p.Arg168His)	single nucleotide variant	Inborn genetic diseases [RCV002891826]	Chr17:33291613 [GRCh38] Chr17:31618631 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.260C>T (p.Ala87Val)	single nucleotide variant	Inborn genetic diseases [RCV002850051]	Chr17:33291856 [GRCh38] Chr17:31618874 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.187C>T (p.Arg63Cys)	single nucleotide variant	Inborn genetic diseases [RCV002850503]	Chr17:33291929 [GRCh38] Chr17:31618947 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.1658C>T (p.Thr553Met)	single nucleotide variant	Inborn genetic diseases [RCV002896546]	Chr17:33013999 [GRCh38] Chr17:31341017 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.1670C>T (p.Thr557Ile)	single nucleotide variant	Inborn genetic diseases [RCV002921634]	Chr17:33013987 [GRCh38] Chr17:31341005 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.866C>T (p.Thr289Met)	single nucleotide variant	Inborn genetic diseases [RCV002668461]	Chr17:33088984 [GRCh38] Chr17:31416002 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.271C>A (p.Leu91Met)	single nucleotide variant	Inborn genetic diseases [RCV002809621]	Chr17:33291845 [GRCh38] Chr17:31618863 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.539C>T (p.Pro180Leu)	single nucleotide variant	Inborn genetic diseases [RCV002944898]	Chr17:33291577 [GRCh38] Chr17:31618595 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.1293C>G (p.Ser431Arg)	single nucleotide variant	Inborn genetic diseases [RCV003210083]	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	Inborn genetic diseases [RCV003309074]	Chr17:33024005 [GRCh38] Chr17:31351023 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.65T>G (p.Met22Arg)	single nucleotide variant	Inborn genetic diseases [RCV003371982]	Chr17:33292051 [GRCh38] Chr17:31619069 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.1511A>G (p.Tyr504Cys)	single nucleotide variant	Inborn genetic diseases [RCV003364655]	Chr17:33017615 [GRCh38] Chr17:31344633 [GRCh37] Chr17:17q11.2	uncertain significance
NM_183377.2(ASIC2):c.121G>T (p.Gly41Cys)	single nucleotide variant	Inborn genetic diseases [RCV003359982]	Chr17:33291995 [GRCh38] Chr17:31619013 [GRCh37] Chr17:17q11.2	uncertain significance
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.179C>T (p.Ser60Leu)	single nucleotide variant	Inborn genetic diseases [RCV003275821]	Chr17:33291937 [GRCh38] Chr17:31618955 [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.

Markers in Region

D17S1540

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,371,190 - 31,371,372	UniSTS	GRCh37
Build 36	17	28,395,303 - 28,395,485	RGD	NCBI36
Celera	17	28,282,129 - 28,282,311	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,556,525 - 27,556,707	UniSTS
Marshfield Genetic Map	17	54.17	UniSTS
Marshfield Genetic Map	17	54.17	RGD
deCODE Assembly Map	17	55.6	UniSTS

D17S1850

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,137,730 - 32,137,997	UniSTS	GRCh37
Build 36	17	29,161,843 - 29,162,110	RGD	NCBI36
Celera	17	29,048,442 - 29,048,709	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,322,828 - 28,323,095	UniSTS
Marshfield Genetic Map	17	55.33	RGD
Marshfield Genetic Map	17	55.33	UniSTS
Genethon Genetic Map	17	55.0	UniSTS

D17S2194

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,952,129 - 31,952,333	UniSTS	GRCh37
Build 36	17	28,976,242 - 28,976,446	RGD	NCBI36
Celera	17	28,862,865 - 28,863,069	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,137,366 - 28,137,570	UniSTS
Marshfield Genetic Map	17	54.17	UniSTS
deCODE Assembly Map	17	57.43	UniSTS

RH76641

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,476,697 - 32,476,793	UniSTS	GRCh37
Build 36	17	29,500,810 - 29,500,906	RGD	NCBI36
Celera	17	29,388,152 - 29,388,248	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,662,017 - 28,662,113	UniSTS

RH92493

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,445,393 - 32,445,529	UniSTS	GRCh37
Build 36	17	29,469,506 - 29,469,642	RGD	NCBI36
Celera	17	29,356,882 - 29,357,018	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,630,745 - 28,630,881	UniSTS
GeneMap99-GB4 RH Map	17	287.3	UniSTS

RH28431

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,371,285 - 32,371,377	UniSTS	GRCh37
Build 36	17	29,395,398 - 29,395,490	RGD	NCBI36
Celera	17	29,282,864 - 29,282,956	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,556,745 - 28,556,837	UniSTS

RH67569

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,363,900 - 32,364,023	UniSTS	GRCh37
GRCh37	17	60,690,551 - 60,690,674	UniSTS	GRCh37
Build 36	17	29,388,013 - 29,388,136	RGD	NCBI36
Celera	17	29,275,475 - 29,275,598	RGD
Celera	17	55,078,453 - 55,078,576	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	17	q23	UniSTS
HuRef	17	28,549,366 - 28,549,489	UniSTS
HuRef	17	56,057,622 - 56,057,745	UniSTS

RH93845

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,857,099 - 31,857,220	UniSTS	GRCh37
Build 36	17	28,881,212 - 28,881,333	RGD	NCBI36
Celera	17	28,767,808 - 28,767,929	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,042,315 - 28,042,436	UniSTS
GeneMap99-GB4 RH Map	17	283.54	UniSTS

SHGC-81279

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,394,527 - 31,394,823	UniSTS	GRCh37
Build 36	17	28,418,640 - 28,418,936	RGD	NCBI36
Celera	17	28,305,463 - 28,305,759	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,579,863 - 27,580,159	UniSTS
TNG Radiation Hybrid Map	17	13183.0	UniSTS

SHGC-84158

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,570,296 - 31,570,641	UniSTS	GRCh37
Build 36	17	28,594,409 - 28,594,754	RGD	NCBI36
Celera	17	28,481,192 - 28,481,537	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,755,522 - 27,755,867	UniSTS
TNG Radiation Hybrid Map	17	13266.0	UniSTS

G49579

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,065,349 - 32,065,454	UniSTS	GRCh37
Build 36	17	29,089,462 - 29,089,567	RGD	NCBI36
Celera	17	28,976,082 - 28,976,187	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,250,606 - 28,250,711	UniSTS
TNG Radiation Hybrid Map	17	13641.0	UniSTS

RH122277

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,973,688 - 31,973,878	UniSTS	GRCh37
Build 36	17	28,997,801 - 28,997,991	RGD	NCBI36
Celera	17	28,884,419 - 28,884,609	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,158,912 - 28,159,102	UniSTS
TNG Radiation Hybrid Map	17	13602.0	UniSTS

RH123189

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,641,150 - 31,641,479	UniSTS	GRCh37
Build 36	17	28,665,263 - 28,665,592	RGD	NCBI36
Celera	17	28,552,035 - 28,552,364	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,826,256 - 27,826,585	UniSTS
TNG Radiation Hybrid Map	17	13339.0	UniSTS

G42370

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,518,849 - 31,519,207	UniSTS	GRCh37
Build 36	17	28,542,962 - 28,543,320	RGD	NCBI36
Celera	17	28,429,794 - 28,430,152	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,704,195 - 27,704,553	UniSTS

G62513

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,267,906 - 32,268,190	UniSTS	GRCh37
Build 36	17	29,292,019 - 29,292,303	RGD	NCBI36
Celera	17	29,178,603 - 29,178,887	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,453,210 - 28,453,494	UniSTS
TNG Radiation Hybrid Map	17	15082.0	UniSTS

G62594

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,294,956 - 32,295,243	UniSTS	GRCh37
Build 36	17	29,319,069 - 29,319,356	RGD	NCBI36
Celera	17	29,205,656 - 29,205,943	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,480,265 - 28,480,552	UniSTS
TNG Radiation Hybrid Map	17	15060.0	UniSTS

SHGC-106373

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,237,851 - 32,238,149	UniSTS	GRCh37
Build 36	17	29,261,964 - 29,262,262	RGD	NCBI36
Celera	17	29,148,549 - 29,148,847	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,423,175 - 28,423,473	UniSTS
TNG Radiation Hybrid Map	17	15117.0	UniSTS

SHGC-145757

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,251,384 - 32,251,709	UniSTS	GRCh37
Build 36	17	29,275,497 - 29,275,822	RGD	NCBI36
Celera	17	29,162,083 - 29,162,408	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,436,693 - 28,437,018	UniSTS
TNG Radiation Hybrid Map	17	15108.0	UniSTS

SHGC-146075

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,617,897 - 31,618,170	UniSTS	GRCh37
Build 36	17	28,642,010 - 28,642,283	RGD	NCBI36
Celera	17	28,528,794 - 28,529,067	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,803,007 - 27,803,278	UniSTS
TNG Radiation Hybrid Map	17	13316.0	UniSTS

SHGC-147393

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,676,340 - 31,676,685	UniSTS	GRCh37
Build 36	17	28,700,453 - 28,700,798	RGD	NCBI36
Celera	17	28,587,207 - 28,587,552	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,861,433 - 27,861,778	UniSTS
TNG Radiation Hybrid Map	17	13355.0	UniSTS

SHGC-153663

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,657,445 - 31,657,749	UniSTS	GRCh37
Build 36	17	28,681,558 - 28,681,862	RGD	NCBI36
Celera	17	28,568,318 - 28,568,622	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,842,540 - 27,842,844	UniSTS
TNG Radiation Hybrid Map	17	13349.0	UniSTS

SHGC-154446

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,938,424 - 31,938,764	UniSTS	GRCh37
Build 36	17	28,962,537 - 28,962,877	RGD	NCBI36
Celera	17	28,849,161 - 28,849,501	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,123,661 - 28,124,001	UniSTS
TNG Radiation Hybrid Map	17	13575.0	UniSTS

SHGC-153682

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,775,326 - 31,775,654	UniSTS	GRCh37
Build 36	17	28,799,439 - 28,799,767	RGD	NCBI36
Celera	17	28,686,182 - 28,686,510	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,960,413 - 27,960,741	UniSTS
TNG Radiation Hybrid Map	17	13421.0	UniSTS

SHGC-154441

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,414,961 - 31,415,282	UniSTS	GRCh37
Build 36	17	28,439,074 - 28,439,395	RGD	NCBI36
Celera	17	28,325,904 - 28,326,225	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,600,303 - 27,600,624	UniSTS
TNG Radiation Hybrid Map	17	13204.0	UniSTS

SHGC-155068

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,599,955 - 31,600,289	UniSTS	GRCh37
Build 36	17	28,624,068 - 28,624,402	RGD	NCBI36
Celera	17	28,510,854 - 28,511,188	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,785,076 - 27,785,410	UniSTS
TNG Radiation Hybrid Map	17	13276.0	UniSTS

SHGC-156229

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,806,403 - 31,806,673	UniSTS	GRCh37
Build 36	17	28,830,516 - 28,830,786	RGD	NCBI36
Celera	17	28,717,180 - 28,717,450	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,991,489 - 27,991,759	UniSTS
TNG Radiation Hybrid Map	17	13437.0	UniSTS

SHGC-173267

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,135,636 - 32,135,921	UniSTS	GRCh37
Build 36	17	29,159,749 - 29,160,034	RGD	NCBI36
Celera	17	29,046,348 - 29,046,633	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,320,734 - 28,321,019	UniSTS
TNG Radiation Hybrid Map	17	13680.0	UniSTS

D17S1316

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,180,076 - 32,180,178	UniSTS	GRCh37
Build 36	17	29,204,189 - 29,204,291	RGD	NCBI36
Celera	17	29,090,788 - 29,090,890	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,365,186 - 28,365,288	UniSTS

D17S1694

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,170,417 - 32,170,544	UniSTS	GRCh37
Build 36	17	29,194,530 - 29,194,657	RGD	NCBI36
Celera	17	29,081,129 - 29,081,256	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,355,547 - 28,355,674	UniSTS
Whitehead-RH Map	17	301.7	UniSTS

FB6F10

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,451,139 - 32,451,368	UniSTS	GRCh37
Build 36	17	29,475,252 - 29,475,481	RGD	NCBI36
Celera	17	29,362,617 - 29,362,846	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,636,478 - 28,636,707	UniSTS
Whitehead-RH Map	17	299.2	UniSTS

TLK2_8170

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	60,689,815 - 60,690,730	UniSTS	GRCh37
GRCh37	17	32,363,844 - 32,364,751	UniSTS	GRCh37
Build 36	17	29,387,957 - 29,388,864	RGD	NCBI36
Celera	17	55,077,717 - 55,078,632	UniSTS
Celera	17	29,275,419 - 29,276,326	RGD
HuRef	17	56,056,886 - 56,057,801	UniSTS
HuRef	17	28,549,310 - 28,550,217	UniSTS

AB056819

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,578,912 - 31,579,014	UniSTS	GRCh37
Build 36	17	28,603,025 - 28,603,127	RGD	NCBI36
Celera	17	28,489,810 - 28,489,912	RGD
HuRef	17	27,764,140 - 27,764,242	UniSTS

STS-AA019851

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,041,948 - 32,042,180	UniSTS	GRCh37
Build 36	17	29,066,061 - 29,066,293	RGD	NCBI36
Celera	17	28,952,669 - 28,952,913	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,227,186 - 28,227,439	UniSTS
GeneMap99-GB4 RH Map	17	296.56	UniSTS

RH66290

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,451,236 - 32,451,358	UniSTS	GRCh37
Build 36	17	29,475,349 - 29,475,471	RGD	NCBI36
Celera	17	29,362,714 - 29,362,836	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,636,575 - 28,636,697	UniSTS
GeneMap99-GB4 RH Map	17	287.37	UniSTS

G09898

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,880,476 - 31,880,566	UniSTS	GRCh37
Build 36	17	28,904,589 - 28,904,679	RGD	NCBI36
Celera	17	28,791,184 - 28,791,277	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,065,701 - 28,065,794	UniSTS

D17S1656

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,535,450 - 31,535,614	UniSTS	GRCh37
Build 36	17	28,559,563 - 28,559,727	RGD	NCBI36
Celera	17	28,446,347 - 28,446,511	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,720,744 - 27,720,908	UniSTS
Whitehead-YAC Contig Map	17		UniSTS

G09780

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,880,294 - 31,880,565	UniSTS	GRCh37
Build 36	17	28,904,407 - 28,904,678	RGD	NCBI36
Celera	17	28,790,998 - 28,791,276	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,065,515 - 28,065,793	UniSTS

RH48684

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,232,184 - 32,232,368	UniSTS	GRCh37
Build 36	17	29,256,297 - 29,256,481	RGD	NCBI36
Celera	17	29,142,882 - 29,143,066	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,417,507 - 28,417,691	UniSTS
GeneMap99-GB4 RH Map	17	287.37	UniSTS

G28628

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,798,749 - 31,799,018	UniSTS	GRCh37
Build 36	17	28,822,862 - 28,823,131	RGD	NCBI36
Celera	17	28,709,528 - 28,709,797	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	27,983,847 - 27,984,116	UniSTS

D17S2139

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,890,544 - 31,890,674	UniSTS	GRCh37
Build 36	17	28,914,657 - 28,914,787	RGD	NCBI36
Celera	17	28,801,254 - 28,801,384	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,075,763 - 28,075,893	UniSTS
TNG Radiation Hybrid Map	17	13525.0	UniSTS
Stanford-G3 RH Map	17	1288.0	UniSTS
NCBI RH Map	17	352.2	UniSTS

G72125

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,007,103 - 32,007,406	UniSTS	GRCh37
Build 36	17	29,031,216 - 29,031,519	RGD	NCBI36
Celera	17	28,917,830 - 28,918,133	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,192,327 - 28,192,630	UniSTS

G72118

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	32,119,119 - 32,119,570	UniSTS	GRCh37
Build 36	17	29,143,232 - 29,143,683	RGD	NCBI36
Celera	17	29,029,851 - 29,030,302	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,304,375 - 28,304,826	UniSTS

G72122

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,951,155 - 31,951,355	UniSTS	GRCh37
Build 36	17	28,975,268 - 28,975,468	RGD	NCBI36
Celera	17	28,861,891 - 28,862,091	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,136,392 - 28,136,592	UniSTS

G72120

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,982,328 - 31,982,577	UniSTS	GRCh37
Build 36	17	29,006,441 - 29,006,690	RGD	NCBI36
Celera	17	28,893,059 - 28,893,308	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,167,552 - 28,167,801	UniSTS

G72117

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,892,694 - 31,893,114	UniSTS	GRCh37
Build 36	17	28,916,807 - 28,917,227	RGD	NCBI36
Celera	17	28,803,405 - 28,803,825	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,077,914 - 28,078,334	UniSTS

G72124

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,845,445 - 31,845,596	UniSTS	GRCh37
Build 36	17	28,869,558 - 28,869,709	RGD	NCBI36
Celera	17	28,756,132 - 28,756,283	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,030,649 - 28,030,800	UniSTS

G72121

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,930,338 - 31,930,488	UniSTS	GRCh37
Build 36	17	28,954,451 - 28,954,601	RGD	NCBI36
Celera	17	28,841,062 - 28,841,212	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,115,568 - 28,115,718	UniSTS

G72123

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,844,023 - 31,844,504	UniSTS	GRCh37
Build 36	17	28,868,136 - 28,868,617	RGD	NCBI36
Celera	17	28,754,709 - 28,755,190	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,029,227 - 28,029,708	UniSTS

G72119

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	31,887,350 - 31,887,600	UniSTS	GRCh37
Build 36	17	28,911,463 - 28,911,713	RGD	NCBI36
Celera	17	28,798,062 - 28,798,312	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	28,072,571 - 28,072,821	UniSTS

G32877

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	60,690,551 - 60,690,674	UniSTS	GRCh37
GRCh37	17	32,363,900 - 32,364,023	UniSTS	GRCh37
Celera	17	29,275,475 - 29,275,598	UniSTS
Celera	17	55,078,453 - 55,078,576	UniSTS
Cytogenetic Map	17	q12	UniSTS
Cytogenetic Map	17	q23	UniSTS
HuRef	17	28,549,366 - 28,549,489	UniSTS
HuRef	17	56,057,622 - 56,057,745	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

647

Low

210

186

602

2460

144

489

407

Below cutoff

1963

1751

973

312

485

167

2782

1213

572

184

789

1067

151

849

1785

View RNA-SEQ Expression Data

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

RefSeq Acc Id:

ENST00000225823 ⟹ ENSP00000225823

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	33,013,087 - 33,293,295 (-)	Ensembl

RefSeq Acc Id:

ENST00000359872 ⟹ ENSP00000352934

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	33,013,087 - 34,157,294 (-)	Ensembl

RefSeq Acc Id:

ENST00000448983

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	33,023,865 - 33,291,441 (-)	Ensembl

RefSeq Acc Id:

ENST00000579816

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	33,111,941 - 33,291,107 (-)	Ensembl

RefSeq Acc Id:

ENST00000583395

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	34,157,181 - 34,174,964 (-)	Ensembl

RefSeq Acc Id:

NM_001094 ⟹ NP_001085

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	33,013,087 - 34,156,768 (-)	NCBI
GRCh37	17	31,340,105 - 32,483,825 (-)	ENTREZGENE
Build 36	17	28,364,218 - 29,507,938 (-)	NCBI Archive
HuRef	17	27,525,463 - 27,805,119 (-)	ENTREZGENE
HuRef	17	28,668,308 - 28,669,144 (-)	NCBI
CHM1_1	17	31,403,273 - 32,547,482 (-)	NCBI
T2T-CHM13v2.0	17	33,959,166 - 35,103,157 (-)	NCBI

Sequence:

show sequence

AGCCCTCCTTATCGCCTGGAAAAAATCAAGAGCTAGAGTTTGAATGGGTTTTATATAAACACTC
ACCCCTGTCAGCGTGCGGCTGGGCTCTCAGGATAAACTCACAGCATCTGGCGCGATGCTTGCCT
TGCGTTCTCTCCCCTGAACGTCAAGGTTTAAGCAGAGCCCGAGGACTGGGAGCTCTTCTCTGAA
ATTCGATCAACCTGAAGCCAGTTGCGGAACTGCACGGGGTCCCGATGGACCTCAAGGAAAGCCC
CAGTGAGGGCAGCCTGCAACCTTCTAGCATCCAGATCTTTGCCAACACCTCCACCCTCCATGGC
ATCCGCCACATCTTCGTGTATGGGCCGCTGACCATCCGGCGTGTGCTGTGGGCAGTGGCCTTCG
TGGGCTCTCTGGGCCTGCTGCTGGTGGAGAGCTCTGAGAGGGTGTCCTACTACTTCTCCTACCA
GCATGTCACTAAGGTGGACGAAGTGGTGGCTCAAAGCCTGGTCTTCCCAGCTGTGACCCTCTGT
AACCTGAATGGCTTCCGGTTCTCCAGGCTCACCACCAATGACCTGTACCATGCTGGGGAGCTGC
TGGCCCTGCTGGATGTCAACCTGCAGATCCCGGACCCCCATCTGGCTGACCCCTCCGTGCTGGA
GGCCCTGCGGCAGAAGGCCAACTTCAAGCACTACAAACCCAAGCAGTTCAGCATGCTGGAGTTC
CTGCACCGTGTGGGCCATGACCTGAAGGATATGATGCTCTACTGCAAGTTCAAAGGGCAGGAGT
GCGGCCACCAAGACTTCACCACAGTGTTTACAAAATATGGGAAGTGTTACATGTTTAACTCAGG
CGAGGATGGCAAACCTCTGCTCACCACGGTCAAGGGGGGGACAGGCAACGGGCTGGAGATCATG
CTGGACATTCAGCAGGATGAGTACCTGCCCATCTGGGGAGAGACAGAGGAAACGACATTTGAAG
CAGGAGTGAAAGTTCAGATCCACAGTCAGTCTGAGCCACCTTTCATCCAAGAGCTGGGCTTTGG
GGTGGCTCCAGGGTTCCAGACCTTTGTGGCCACACAGGAGCAGAGGCTCACATACCTGCCCCCA
CCGTGGGGTGAGTGCCGATCCTCAGAGATGGGCCTCGACTTTTTTCCTGTTTACAGCATCACCG
CCTGTAGGATTGACTGTGAGACCCGCTACATTGTGGAAAACTGCAACTGCCGCATGGTTCACAT
GCCAGGGGATGCCCCTTTTTGTACCCCTGAGCAGCACAAGGAGTGTGCAGAGCCTGCCCTAGGT
CTGTTGGCGGAAAAGGACAGCAATTACTGTCTCTGCAGGACACCCTGCAACCTAACCCGCTACA
ACAAAGAGCTCTCCATGGTGAAGATCCCCAGCAAGACATCAGCCAAGTACCTTGAGAAGAAATT
TAACAAATCAGAAAAATATATCTCAGAGAACATCCTTGTTCTGGATATATTTTTTGAAGCTCTC
AATTATGAGACAATTGAACAGAAGAAGGCGTATGAAGTTGCTGCCTTACTTGGTGATATTGGTG
GTCAGATGGGATTGTTCATTGGTGCTAGTATCCTTACAATACTAGAGCTCTTTGATTATATTTA
TGAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGGAGCCACGAT
GAGAATGTGAGTACTTGTGACACAATGCCAAACCACTCTGAAACCATCAGTCACACTGTGAACG
TGCCCCTGCAGACGACCCTGGGGACCTTGGAGGAGATTGCCTGCTGACACCCCTCGAGTCACCC
AGCACTCCCTCCAAACAGACCTTGAGGCCCAAGACCCAGGACAAGGAACAGCAAGCTCAGGTGG
GATGGCCCCAGTGCTGGAAAGAAGCAAGAGCCCCCTATGCACACATTGCAGACTAGCTGCCTAG
ACCTCGCTCCGGCCACGTCCAACACGACGCATCCTTGGGCCCCGCCGTGCGTCCCTCTTAGGAG
AGATGAGTCACACTCTGGAACTGTCCAAGAACGAACCTGCCATCACATCTCACTGCCAGATGTA
TAAAGCACCTGCATGCTCAGACTTCTTGTGGCGCCACCTCCACGTCTGTCTTGTACATGACACT
CCTCCACGCGGTTTCCAGTGTCCACACTGCTGCCCGTGCAGTGGGACCAGATTCCAGGTCCAAA
GTCACCATGAGGCCACCCTGGAATCAGAACTGCACAATCAAGAGGGAACCCATGGGACTCTCTG
CTACATTCAGTTCTTGTGTCGTTTGTGAAAGTTCTTAACCTGCCCAAAAACCCCCTTTTCCCCA
AGCTGCCCATGGGGCTTCGGCGCCAAAGGTGACCCGCGCCAACCTCCCTCCCCCCCAGTGCCTA
TGACGGCGGCACAGCAGCCAGCGGGTGGGGGACGCCTGTGTTCACCCATGGTGCCCATGTCGTT
CTTCTCTCCCTGTGACACAGCTTGTACAGTCTGATTCTTTTTATCTGGGGTAGGGGGGCTTTTA
TGTTTGTCCGATGGAGATTTGTTTTGTTTTGCTTCATTTTATGCTTTTTTATTTTAGTTTTGAT
GTTCTGAGGTTTGCTTTGGTTTTTCCATTTTCTTTGGCATTTATTTATTCGTGCTTCAAATCAC
AGTCATATTAAAAGCTGGTCTTGTGGAAA

hide sequence

RefSeq Acc Id:

NM_183377 ⟹ NP_899233

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	33,013,087 - 33,293,295 (-)	NCBI
GRCh37	17	31,340,105 - 32,483,825 (-)	ENTREZGENE
Build 36	17	28,364,218 - 28,644,119 (-)	NCBI Archive
HuRef	17	27,525,463 - 27,805,119 (-)	ENTREZGENE
CHM1_1	17	31,403,273 - 31,683,166 (-)	NCBI
T2T-CHM13v2.0	17	33,959,166 - 34,239,219 (-)	NCBI

Sequence:

show sequence

GGAGCCGCGGGGCCAGCGAGCTGAGGAGCAGGTGCTCGGAGCCCAGCCGCGCCAGCGTCGCGCG
GCCGCTGCCCAAGTTCGCCTGGGGCCCAAAGAGGGTTCTCCCGGGCAACCGGGGAAGGAGCTTA
GCCGGCGTCACGGCCACCGCGAGCTCGGAGTCTCGAGAGGAGAAGGGCGCGCGGAGCAGCGAGT
CCGGGTCACCCCCGGGAGGTGTTGGCGGGTCCCCGCAGTCCCCAGCTCTTGTCGCCGCGGGGGC
AGAGAGAAGACGCGAGAGACAGCAAGGCTGGGCTTTTCTGGAGACGCGAGGCACCTGGGAGAGC
CGAGGCGAGAAGCGACACTTCCCTGCGGCTAGCATCCTTGAAGGACCCCGGCGGCGAACAGCCT
CCCGCAGGACGCCCTGAGAAGCTCTCAGCCCCAGGCGAGAGCGGGCGCCTGGCAGGACTTAGGC
GCAGGACTTGGGGAAGCCTAAGCAGGTCTCTGCCGAGCGCAGCCCAGGGAGCAGTAACAAGGAA
GGGTCCTGGAGGGGAAGGGAAAGAAGGCGGCAGCCGGCAAGGCGACCACTCACCCCCGTACACA
CCCACCCCGCCCGCCCAGCCAGGAGCCGCGGTGCGCCTCTGGGGGCGCTCGTTCCTTGGCGCCT
TCTCTCCCGTGTCCCAGCACCGCTGGGCTACGGGCCGGGCTGGTGGGGTCCCTGGGGATGTCCA
GATCAGGCATGGTGGCCGAGTGGCCCTTCTCCCAGGACCAGCGTAAAAGCTGGGGTTAGGCGGG
GCAGGGGGGACTCGGCTCAGGGTCCCCCGAGGTCCAGGACGAGGGAAGGCGGGCGCAGCACCCA
GGGACTGGAGAGGCGGCTCCCAGTGGGACCCCTCCAGAAGTAGTGCCGGGCGCCGGGCATCCTC
CAGGAAGACCAGGGGCCGGGAAAGCCTGGGAGGCGCTCGGGAGAGGCCACTGCCAGGGGCTGCG
GGCTGAGGCGGCGCTCAGCCCCGGGCGGGCGCCCGCGGAGGCGGCAGCGGCGGCGCCGGGCGGG
CATGCCGCGCCACCGGAGCTCCTTTCGGGCGCACGCTTCCCTGGCGCGGGCTGCGCGCGGCTGC
CGCTGCTGCTGCTTCCACTGCTGCTGCGGACTCCCATGGCGGCTCCGCCCGGCCGGGGCCGCCG
CCGCTGCCGCCAGCCGCGGGCTGAATGAATGAGCCGGATTGGCGGAGCCGGGCTGCCCGCAGCC
GCGCTCACCGGCCCGGGACGCTTCCGCATGGCCCGCGAGGAGCCGGCGCCCGCGGCGTTGGCGG
CTGCCGGGCAGCCCGGGGGCGGCAGAGGCGGCGAGCGGGCGCTGCAGGGGCCAGGGGTCGCCCG
CAGGGGGCGGCCATCGCTGAGCCGCGCTAAACTGCACGGGCTGCGGCACATGTGTGCCGGGCGC
ACGGCGGCTGGGGGCTCCTTCCAGCGGCGGGCGCTGTGGGTGCTGGCCTTCTGTACATCCTTCG
GCTTGCTGCTGTCCTGGTCCTCGAACCGCTTGCTCTACTGGCTCAGCTTCCCGTCACACACGCG
GGTGCACCGCGAGTGGAGCCGCCAGTTACCCTTCCCCGCCGTCACTGTGTGCAACAACAACCCG
CTGCGCTTCCCGCGCCTCTCCAAGGGGGACCTCTACTATGCCGGCCACTGGCTCGGGCTGCTGC
TGCCCAACCGCACCGCGCGCCCGCTTGTCAGCGAGCTGCTGCGGGGCGACGAGCCGCGCCGCCA
GTGGTTCCGCAAGCTGGCGGACTTCCGCCTCTTCCTGCCTCCGCGCCACTTCGAGGGAATCAGC
GCCGCCTTCATGGACCGCCTGGGCCACCAGCTGGAGGACATGCTGCTCTCCTGCAAGTACCGCG
GCGAGCTCTGCGGGCCGCACAACTTCTCCTCCGTGTTTACAAAATATGGGAAGTGTTACATGTT
TAACTCAGGCGAGGATGGCAAACCTCTGCTCACCACGGTCAAGGGGGGGACAGGCAACGGGCTG
GAGATCATGCTGGACATTCAGCAGGATGAGTACCTGCCCATCTGGGGAGAGACAGAGGAAACGA
CATTTGAAGCAGGAGTGAAAGTTCAGATCCACAGTCAGTCTGAGCCACCTTTCATCCAAGAGCT
GGGCTTTGGGGTGGCTCCAGGGTTCCAGACCTTTGTGGCCACACAGGAGCAGAGGCTCACATAC
CTGCCCCCACCGTGGGGTGAGTGCCGATCCTCAGAGATGGGCCTCGACTTTTTTCCTGTTTACA
GCATCACCGCCTGTAGGATTGACTGTGAGACCCGCTACATTGTGGAAAACTGCAACTGCCGCAT
GGTTCACATGCCAGGGGATGCCCCTTTTTGTACCCCTGAGCAGCACAAGGAGTGTGCAGAGCCT
GCCCTAGGTCTGTTGGCGGAAAAGGACAGCAATTACTGTCTCTGCAGGACACCCTGCAACCTAA
CCCGCTACAACAAAGAGCTCTCCATGGTGAAGATCCCCAGCAAGACATCAGCCAAGTACCTTGA
GAAGAAATTTAACAAATCAGAAAAATATATCTCAGAGAACATCCTTGTTCTGGATATATTTTTT
GAAGCTCTCAATTATGAGACAATTGAACAGAAGAAGGCGTATGAAGTTGCTGCCTTACTTGGTG
ATATTGGTGGTCAGATGGGATTGTTCATTGGTGCTAGTATCCTTACAATACTAGAGCTCTTTGA
TTATATTTATGAGCTGATCAAAGAGAAGCTATTAGACCTGCTTGGCAAAGAGGAGGACGAAGGG
AGCCACGATGAGAATGTGAGTACTTGTGACACAATGCCAAACCACTCTGAAACCATCAGTCACA
CTGTGAACGTGCCCCTGCAGACGACCCTGGGGACCTTGGAGGAGATTGCCTGCTGACACCCCTC
GAGTCACCCAGCACTCCCTCCAAACAGACCTTGAGGCCCAAGACCCAGGACAAGGAACAGCAAG
CTCAGGTGGGATGGCCCCAGTGCTGGAAAGAAGCAAGAGCCCCCTATGCACACATTGCAGACTA
GCTGCCTAGACCTCGCTCCGGCCACGTCCAACACGACGCATCCTTGGGCCCCGCCGTGCGTCCC
TCTTAGGAGAGATGAGTCACACTCTGGAACTGTCCAAGAACGAACCTGCCATCACATCTCACTG
CCAGATGTATAAAGCACCTGCATGCTCAGACTTCTTGTGGCGCCACCTCCACGTCTGTCTTGTA
CATGACACTCCTCCACGCGGTTTCCAGTGTCCACACTGCTGCCCGTGCAGTGGGACCAGATTCC
AGGTCCAAAGTCACCATGAGGCCACCCTGGAATCAGAACTGCACAATCAAGAGGGAACCCATGG
GACTCTCTGCTACATTCAGTTCTTGTGTCGTTTGTGAAAGTTCTTAACCTGCCCAAAAACCCCC
TTTTCCCCAAGCTGCCCATGGGGCTTCGGCGCCAAAGGTGACCCGCGCCAACCTCCCTCCCCCC
CAGTGCCTATGACGGCGGCACAGCAGCCAGCGGGTGGGGGACGCCTGTGTTCACCCATGGTGCC
CATGTCGTTCTTCTCTCCCTGTGACACAGCTTGTACAGTCTGATTCTTTTTATCTGGGGTAGGG
GGGCTTTTATGTTTGTCCGATGGAGATTTGTTTTGTTTTGCTTCATTTTATGCTTTTTTATTTT
AGTTTTGATGTTCTGAGGTTTGCTTTGGTTTTTCCATTTTCTTTGGCATTTATTTATTCGTGCT
TCAAATCACAGTCATATTAAAAGCTGGTCTTGTGGAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001085	(Get FASTA)	NCBI Sequence Viewer
	NP_899233	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB49182	(Get FASTA)	NCBI Sequence Viewer
	AAC50432	(Get FASTA)	NCBI Sequence Viewer
	AAC50498	(Get FASTA)	NCBI Sequence Viewer
	AAH75042	(Get FASTA)	NCBI Sequence Viewer
	AAH75043	(Get FASTA)	NCBI Sequence Viewer
	BAG35875	(Get FASTA)	NCBI Sequence Viewer
	BAG54565	(Get FASTA)	NCBI Sequence Viewer
	CAD38879	(Get FASTA)	NCBI Sequence Viewer
	CCQ43074	(Get FASTA)	NCBI Sequence Viewer
	EAW80216	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000225823
	ENSP00000225823.2
	ENSP00000352934
	ENSP00000352934.6
GenBank Protein	Q16515	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_899233 ⟸ NM_183377
- Peptide Label:	isoform MDEG2
- UniProtKB:	B3KXQ3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSRIGGAGLPAAALTGPGRFRMAREEPAPAALAAAGQPGGGRGGERALQGPGVARRGRPSLSRA KLHGLRHMCAGRTAAGGSFQRRALWVLAFCTSFGLLLSWSSNRLLYWLSFPSHTRVHREWSRQL PFPAVTVCNNNPLRFPRLSKGDLYYAGHWLGLLLPNRTARPLVSELLRGDEPRRQWFRKLADFR LFLPPRHFEGISAAFMDRLGHQLEDMLLSCKYRGELCGPHNFSSVFTKYGKCYMFNSGEDGKPL LTTVKGGTGNGLEIMLDIQQDEYLPIWGETEETTFEAGVKVQIHSQSEPPFIQELGFGVAPGFQ TFVATQEQRLTYLPPPWGECRSSEMGLDFFPVYSITACRIDCETRYIVENCNCRMVHMPGDAPF CTPEQHKECAEPALGLLAEKDSNYCLCRTPCNLTRYNKELSMVKIPSKTSAKYLEKKFNKSEKY ISENILVLDIFFEALNYETIEQKKAYEVAALLGDIGGQMGLFIGASILTILELFDYIYELIKEK LLDLLGKEEDEGSHDENVSTCDTMPNHSETISHTVNVPLQTTLGTLEEIAC hide sequence

RefSeq Acc Id:	NP_001085 ⟸ NM_001094
- Peptide Label:	isoform MDEG1
- UniProtKB:	Q6DJU1 (UniProtKB/Swiss-Prot), Q13553 (UniProtKB/Swiss-Prot), E9PBX2 (UniProtKB/Swiss-Prot), Q8N3E2 (UniProtKB/Swiss-Prot), Q16515 (UniProtKB/Swiss-Prot), B2R7M8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDLKESPSEGSLQPSSIQIFANTSTLHGIRHIFVYGPLTIRRVLWAVAFVGSLGLLLVESSERV SYYFSYQHVTKVDEVVAQSLVFPAVTLCNLNGFRFSRLTTNDLYHAGELLALLDVNLQIPDPHL ADPSVLEALRQKANFKHYKPKQFSMLEFLHRVGHDLKDMMLYCKFKGQECGHQDFTTVFTKYGK CYMFNSGEDGKPLLTTVKGGTGNGLEIMLDIQQDEYLPIWGETEETTFEAGVKVQIHSQSEPPF IQELGFGVAPGFQTFVATQEQRLTYLPPPWGECRSSEMGLDFFPVYSITACRIDCETRYIVENC NCRMVHMPGDAPFCTPEQHKECAEPALGLLAEKDSNYCLCRTPCNLTRYNKELSMVKIPSKTSA KYLEKKFNKSEKYISENILVLDIFFEALNYETIEQKKAYEVAALLGDIGGQMGLFIGASILTIL ELFDYIYELIKEKLLDLLGKEEDEGSHDENVSTCDTMPNHSETISHTVNVPLQTTLGTLEEIAC hide sequence

RefSeq Acc Id:

ENSP00000352934 ⟸ ENST00000359872

RefSeq 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 Assembly	Chr	Position (strand)	Source
GRCh38	17	34,157,211 - 34,157,271	EPDNEW

Additional Information

External Database Links

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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