Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	40
Gene name Gene Name - the full gene name approved by the HGNC.	Acid sensing ion channel subunit 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ASIC2
Synonyms (NCBI Gene) Gene synonyms aliases	ACCN, ACCN1, ASIC2a, BNC1, BNaC1, MDEG, hBNaC1
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q11.2-q12
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the degenerin/epithelial sodium channel (DEG/ENaC) superfamily. The members of this family are amiloride-sensitive sodium channels that contain intracellular N and C termini, 2 hydrophobic transmembrane regions, and a large e

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003026	Process	Regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback	IEA
GO:0005515	Function	Protein binding	IPI	11802773
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0007268	Process	Chemical synaptic transmission	TAS	8626462
GO:0007417	Process	Central nervous system development	TAS	8626462
GO:0007422	Process	Peripheral nervous system development	TAS	8626462
GO:0007602	Process	Phototransduction	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0010447	Process	Response to acidic pH	IEA
GO:0015280	Function	Ligand-gated sodium channel activity	IBA	21873635
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0022839	Function	Ion gated channel activity	IEA
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0034765	Process	Regulation of ion transmembrane transport	IEA
GO:0035418	Process	Protein localization to synapse	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA	21873635
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0050915	Process	Sensory perception of sour taste	IMP	19812697
GO:0050974	Process	Detection of mechanical stimulus involved in sensory perception	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0098662	Process	Inorganic cation transmembrane transport	TAS	8626462

MIM	HGNC	e!Ensembl
601784	99	ENSG00000108684

Protein

UniProt ID

Q16515

Protein name

Acid-sensing ion channel 2 (ASIC2) (Amiloride-sensitive cation channel 1, neuronal) (Amiloride-sensitive cation channel neuronal 1) (Brain sodium channel 1) (BNC1) (BNaC1) (Mammalian degenerin homolog) (MDEG)

Protein function

Forms pH-gated trimeric sodium channels that act as postsynaptic excitatory sensors in the nervous system (PubMed:10842183, PubMed:23034652, PubMed:8626462, PubMed:8631835). Upon extracellular acidification, these channels generate rapid, transi

PDB

6L6P

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00858	ASC	20 → 453	Amiloride-sensitive sodium channel	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, cerebellum, trigeminal sensory ganglia and also detected in testis. {ECO:0000269|PubMed:10842183, ECO:0000269|PubMed:8631835}.

Sequence

MDLKESPSEGSLQPSSIQIFANTSTLHGIRHIFVYGPLTIRRVLWAVAFVGSLGLLLVES
SERVSYYFSYQHVTKVDEVVAQSLVFPAVTLCNLNGFRFSRLTTNDLYHAGELLALLDVN
LQIPDPHLADPSVLEALRQKANFKHYKPKQFSMLEFLHRVGHDLKDMMLYCKFKGQECGH
QDFTTVFTKYGKCYMFNSGEDGKPLLTTVKGGTGNGLEIMLDIQQDEYLPIWGETEETTF
EAGVKVQIHSQSEPPFIQELGFGVAPGFQTFVATQEQRLTYLPPPWGECRSSEMGLDFFP
VYSITACRIDCETRYIVENCNCRMVHMPGDAPFCTPEQHKECAEPALGLLAEKDSNYCLC
RTPCNLTRYNKELSMVKIPSKTSAKYLEKKFNKSEKYISENILVLDIFFEALNYETIEQK
KAYEVAALLGDIGGQMGLFIGASILTILELFDYIYELIKEKLLDLLGKEEDEGSHDENVS
TCDTMPNHSETISHTVNVPLQTTLGTLEEIAC

Sequence length

512

Interactions

View interactions

	KEGG		Reactome
	Taste transduction Inflammatory mediator regulation of TRP channels		Stimuli-sensing channels

Show/Hide Causal Diseases (4)

Disease term	Disease name	dbSNP ID	References
Causal
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699 View all (8 more)	17376794
Leukemia	Leukemia, Myelocytic, Acute	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	27903959
Metabolic syndrome	Metabolic Syndrome X	rs367643250, rs587777380, rs777736953	30621171
Narcolepsy	Narcolepsy	rs104894574, rs387906655	19629137

Show/Hide Unknown Diseases (7)

Disease term	Disease name	Evidence	References	Source
Unknown
Mental depression	Major Depressive Disorder		29662059	ClinVar
Coronary Heart Disease	Coronary Heart Disease			GWAS
Hypothyroidism	Hypothyroidism			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome			GWAS
Mental Depression	Mental Depression			GWAS
Prostate cancer	Prostate cancer	Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population.		GWAS, CBGDA

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining
Basal Cell Nevus Syndrome	Associate	34199609
Cataract Age Related Nuclear	Associate	33213085
Colorectal Neoplasms	Associate	26515597
Diarrhea 5 With Tufting Enteropathy Congenital	Associate	28428534
Glioblastoma	Associate	36522586
Glioma	Associate	12584187, 16704974, 17878160
Glioma	Inhibit	18493581, 29057936
IgA Vasculitis	Associate	28428534
Multiple Sclerosis	Associate	17534430
Neoplasms	Inhibit	18493581, 36522586
Neoplasms	Associate	34199609
Neuroblastoma	Associate	18493581
Panic Disorder	Associate	21811305
Skin Neoplasms	Associate	34199609
Thoracic Injuries	Associate	30485799

ASIC2 (acid sensing ion channel subunit 2)