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(47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003026	Process	Regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005272	Function	Sodium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	11802773
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10842183
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0007416	Process	Synapse assembly	IEA
GO:0007602	Process	Phototransduction	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0009612	Process	Response to mechanical stimulus	IEA
GO:0010447	Process	Response to acidic pH	IEA
GO:0015280	Function	Ligand-gated sodium channel activity	IBA
GO:0015280	Function	Ligand-gated sodium channel activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0019229	Process	Regulation of vasoconstriction	IEA
GO:0022839	Function	Monoatomic ion-gated channel activity	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034765	Process	Regulation of monoatomic ion transmembrane transport	IEA
GO:0035418	Process	Protein localization to synapse	IEA
GO:0035725	Process	Sodium ion transmembrane transport	IBA
GO:0035725	Process	Sodium ion transmembrane transport	IEA
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043197	Component	Dendritic spine	IEA
GO:0045202	Component	Synapse	IEA
GO:0050915	Process	Sensory perception of sour taste	IEA
GO:0050915	Process	Sensory perception of sour taste	IMP	19812697
GO:0050974	Process	Detection of mechanical stimulus involved in sensory perception	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051965	Process	Positive regulation of synapse assembly	IEA
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEA
GO:0071468	Process	Cellular response to acidic pH	IEA
GO:0098839	Component	Postsynaptic density membrane	IEA
GO:0150052	Process	Regulation of postsynapse assembly	IEA
GO:0160125	Function	PH-gated sodium channel activity	IDA	10842183
GO:0160125	Function	PH-gated sodium channel activity	IEA

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 Unknown Diseases (6)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Coronary Heart Disease	Coronary heart disease	N/A	N/A	GWAS
Hypothyroidism	Hypothyroidism	N/A	N/A	GWAS
Mental Depression	Major depressive disorder	N/A	N/A	GWAS
Metabolic Syndrome	Serum bilirubin levels in metabolic syndrome, Metabolic syndrome	N/A	N/A	GWAS
Polycystic Ovary Syndrome	Polycystic ovary syndrome	N/A	N/A	GWAS
Prostate cancer	Prostate cancer (early onset)	N/A	N/A	GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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)