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

    Gene ID: 40, updated on 2-Nov-2024

    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; AllianceGenome:HGNC:99
    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]
    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).
    Expression
    Biased expression in brain (RPKM 2.7), endometrium (RPKM 2.6) and 5 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ASIC2 in Genome Data Viewer
    Location:
    17q11.2-q12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (33013087..34156768, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (33959166..35103157, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (31340105..32483787, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31262798-31263448 Neighboring gene Sharpr-MPRA regulatory region 812 Neighboring gene NANOG hESC enhancer GRCh37_chr17:31329363-31329898 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31341295-31341796 Neighboring gene transmembrane protein 98 Neighboring gene sperm acrosome associated 3 Neighboring gene uncharacterized LOC105371737 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:31439262-31440461 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:31519773-31520284 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:31520285-31520795 Neighboring gene uncharacterized LOC124903985 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31588469-31588970 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31588971-31589470 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:31619340-31619510 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:31689385-31689886 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:31689887-31690386 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31707898-31708398 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31708399-31708899 Neighboring gene NANOG hESC enhancer GRCh37_chr17:31740081-31740603 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:31779502-31780247 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12040 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:31795840-31796340 Neighboring gene uncharacterized LOC112268206 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:31909946-31911145 Neighboring gene uncharacterized LOC147004 Neighboring gene uncharacterized LOC100506677 Neighboring gene uncharacterized LOC124903984 Neighboring gene MPRA-validated peak2804 silencer Neighboring gene VISTA enhancer hs1725 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:32215069-32216268 Neighboring gene OCT4 hESC enhancer GRCh37_chr17:32223186-32223687 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr17:32256031-32256532 Neighboring gene uncharacterized LOC124903983 Neighboring gene Sharpr-MPRA regulatory region 12358 Neighboring gene uncharacterized LOC107985038 Neighboring gene Sharpr-MPRA regulatory region 12081 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12041 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12042 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12043 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12044 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:32304482-32304982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:32304983-32305483 Neighboring gene uncharacterized LOC107987247 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:32357430-32357930 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr17:32357931-32358431 Neighboring gene MPRA-validated peak2807 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:32370125-32371324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 12045 Neighboring gene uncharacterized LOC107985035 Neighboring gene uncharacterized LOC107985036 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:32455433-32455552 Neighboring gene tousled like kinase 2 pseudogene 1 Neighboring gene uncharacterized LOC105371735 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:32483646-32483804 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr17:32484104-32484658 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8431 Neighboring gene RNA, 5S ribosomal pseudogene 438 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:32505165-32505693 Neighboring gene ReSE screen-validated silencer GRCh37_chr17:32510298-32510505 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:32531127-32531628 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:32531629-32532128 Neighboring gene long intergenic non-protein coding RNA 1989 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr17:32578883-32580082 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:32581026-32582000 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr17:32582001-32582975 Neighboring gene C-C motif chemokine ligand 2

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ligand-gated sodium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables monoatomic ion-gated channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables voltage-gated sodium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in cellular response to acidic pH IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to xenobiotic stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in central nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in chemical synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in detection of mechanical stimulus involved in sensory perception IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in establishment of localization in cell IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inorganic cation transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of apoptotic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in peripheral nervous system development TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in phototransduction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein localization to synapse IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of membrane potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of postsynapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of systemic arterial blood pressure by aortic arch baroreceptor feedback IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of vasoconstriction IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sour taste IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in synapse assembly IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in dendritic spine IEA
    Inferred from Electronic Annotation
    more info
     
    located_in neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic density membrane IEA
    Inferred from Electronic Annotation
    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 Na+ channel-1
    brain sodium channel 1
    mammalian degenerin homolog
    neuronal amiloride-sensitive cation channel 1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029763.2 RefSeqGene

      Range
      868473..1148681
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001094.5NP_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)
      AC003687, AC004147, AC008133
      Consensus CDS
      CCDS42296.1
      UniProtKB/Swiss-Prot
      E9PBX2, Q13553, Q16515, Q6DJU1, Q8N3E2
      UniProtKB/TrEMBL
      B2R7M8
      Related
      ENSP00000352934.6, ENST00000359872.6
      Conserved Domains (1) summary
      cl02990
      Location:18496
      ASC; Amiloride-sensitive sodium channel
    2. NM_183377.2NP_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)
      AC003687, AC008133, AC025898
      Consensus CDS
      CCDS11276.1
      UniProtKB/TrEMBL
      B3KXQ3
      Related
      ENSP00000225823.2, ENST00000225823.7
      Conserved Domains (1) summary
      TIGR00859
      Location:64547
      ENaC; sodium channel transporter

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      33013087..34156768 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      33959166..35103157 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)