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ASIC2 acid sensing ion channel subunit 2 [ Homo sapiens (human) ]

Gene ID: 40, updated on 10-Oct-2019

Summary

Official Symbol
ASIC2provided by HGNC
Official Full Name
acid sensing ion channel subunit 2provided by HGNC
Primary source
HGNC:HGNC:99
See related
Ensembl:ENSG00000108684 MIM:601784
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ACCN; BNC1; MDEG; ACCN1; BNaC1; ASIC2a; hBNaC1
Summary
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 extracellular loop, which has many cysteine residues with conserved spacing. The member encoded by this gene may play a role in neurotransmission. In addition, a heteromeric association between this member and acid-sensing (proton-gated) ion channel 3 has been observed to co-assemble into proton-gated channels sensitive to gadolinium. Alternative splicing has been observed at this locus and two variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Feb 2012]
Expression
Biased expression in brain (RPKM 2.7), endometrium (RPKM 2.6) and 5 other tissues See more
Orthologs

Genomic context

See ASIC2 in Genome Data Viewer
Location:
17q11.2-q12
Exon count:
11
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 17 NC_000017.11 (33013087..34156806, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (31340105..32483825, complement)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC102724731 Neighboring gene sperm acrosome associated 3 Neighboring gene uncharacterized LOC105371737 Neighboring gene uncharacterized LOC112268206 Neighboring gene uncharacterized LOC147004 Neighboring gene uncharacterized LOC100506677 Neighboring gene VISTA enhancer hs1725 Neighboring gene Sharpr-MPRA regulatory region 12358 Neighboring gene uncharacterized LOC107985038 Neighboring gene Sharpr-MPRA regulatory region 12081 Neighboring gene uncharacterized LOC107987247 Neighboring gene uncharacterized LOC107985035 Neighboring gene uncharacterized LOC107985036 Neighboring gene uncharacterized LOC107985039 Neighboring gene tousled like kinase 2 pseudogene 1 Neighboring gene uncharacterized LOC105371735 Neighboring gene RNA, 5S ribosomal pseudogene 438 Neighboring gene long intergenic non-protein coding RNA 1989

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study in Europeans and South Asians identifies five new loci for coronary artery disease.
NHGRI GWA Catalog
Combined analysis of three genome-wide association studies on vWF and FVIII plasma levels.
NHGRI GWA Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
NHGRI GWA Catalog
Novel associations for hypothyroidism include known autoimmune risk loci.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog

Pathways from BioSystems

  • Inflammatory mediator regulation of TRP channels, organism-specific biosystem (from KEGG)
    Inflammatory mediator regulation of TRP channels, organism-specific biosystemThe TRP channels that exhibit a unique response to temperature have been given the name thermo-TRPs. Among all thermo- TRP channels, TRPV1-4, TRPM8, and TRPA1 are expressed in subsets of nociceptive...
  • Inflammatory mediator regulation of TRP channels, conserved biosystem (from KEGG)
    Inflammatory mediator regulation of TRP channels, conserved biosystemThe TRP channels that exhibit a unique response to temperature have been given the name thermo-TRPs. Among all thermo- TRP channels, TRPV1-4, TRPM8, and TRPA1 are expressed in subsets of nociceptive...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • Taste transduction, organism-specific biosystem (from KEGG)
    Taste transduction, organism-specific biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
  • Taste transduction, conserved biosystem (from KEGG)
    Taste transduction, conserved biosystemFive basic tastes are recognized by humans and most other animals - bitter, sweet, sour, salty and umami. In vertebrates, taste stimuli are detected by taste receptor cells (TRCs). At least three dis...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ion gated channel activity IEA
Inferred from Electronic Annotation
more info
 
ligand-gated sodium channel activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
central nervous system development TAS
Traceable Author Statement
more info
PubMed 
chemical synaptic transmission TAS
Traceable Author Statement
more info
PubMed 
detection of mechanical stimulus involved in sensory perception IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
monovalent inorganic cation transport TAS
Traceable Author Statement
more info
PubMed 
negative regulation of apoptotic process IEA
Inferred from Electronic Annotation
more info
 
peripheral nervous system development TAS
Traceable Author Statement
more info
PubMed 
phototransduction IEA
Inferred from Electronic Annotation
more info
 
positive regulation of synapse assembly IEA
Inferred from Electronic Annotation
more info
 
protein localization to synapse IEA
Inferred from Electronic Annotation
more info
 
regulation of ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
regulation of membrane potential IEA
Inferred from Electronic Annotation
more info
 
regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback IEA
Inferred from Electronic Annotation
more info
 
regulation of vasoconstriction IEA
Inferred from Electronic Annotation
more info
 
response to acidic pH IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sound IEA
Inferred from Electronic Annotation
more info
 
sensory perception of sour taste IMP
Inferred from Mutant Phenotype
more info
PubMed 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
dendritic spine IEA
Inferred from Electronic Annotation
more info
 
integral component of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
acid-sensing ion channel 2
Names
acid sensing (proton gated) ion channel 2
amiloride-sensitive cation channel 1, neuronal
brain sodium channel 1
mammalian degenerin homolog
neuronal amiloride-sensitive cation channel 1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_029763.1 RefSeqGene

    Range
    5001..1148721
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001094.4NP_001085.2  acid-sensing ion channel 2 isoform MDEG1

    See identical proteins and their annotated locations for NP_001085.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (MDEG1) uses an alternate 5'-terminal exon, compared to variant MDEG2, resulting in a shorter isoform (MDEG1) with a distinct N-terminus, compared to isoform MDEG2.
    Source sequence(s)
    U57352
    Consensus CDS
    CCDS42296.1
    UniProtKB/Swiss-Prot
    Q16515
    Related
    ENSP00000352934.6, ENST00000359872.6
    Conserved Domains (1) summary
    cl02990
    Location:18496
    ASC; Amiloride-sensitive sodium channel
  2. NM_183377.1NP_899233.1  acid-sensing ion channel 2 isoform MDEG2

    See identical proteins and their annotated locations for NP_899233.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (MDEG2) represents the longer transcript and encodes the longer isoform (MDEG2).
    Source sequence(s)
    AL834182
    Consensus CDS
    CCDS11276.1
    UniProtKB/Swiss-Prot
    Q16515
    Related
    ENSP00000225823.2, ENST00000225823.6
    Conserved Domains (1) summary
    TIGR00859
    Location:64547
    ENaC; sodium channel transporter

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p13 Primary Assembly

    Range
    33013087..34156806 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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