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

    Gene ID: 40, updated on 27-Nov-2024

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. Cloning and expression of a novel human brain Na+ channel. Price MP, et al. J Biol Chem, 1996 Apr 5. PMID 8626462
    2. Association between the ACCN1 gene and multiple sclerosis in Central East Sardinia. Bernardinelli L, et al. PLoS One, 2007 May 30. PMID 17534430, Free PMC Article
    3. Two PKC consensus sites on human acid-sensing ion channel 1b differentially regulate its function. Bashari E, et al. Am J Physiol Cell Physiol, 2009 Feb. PMID 19091960, Free PMC Article
    4. Surface expression of ASIC2 inhibits the amiloride-sensitive current and migration of glioma cells. Vila-Carriles WH, et al. J Biol Chem, 2006 Jul 14. PMID 16704974
    5. A genome-wide study of panic disorder suggests the amiloride-sensitive cation channel 1 as a candidate gene. Gregersen N, et al. Eur J Hum Genet, 2012 Jan. PMID 21811305, Free PMC Article

    See all (53) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ASIC2 Synergizes with TRPV1 in the Mechano-Electrical Transduction of Arterial Baroreceptors.
      Title: ASIC2 Synergizes with TRPV1 in the Mechano-Electrical Transduction of Arterial Baroreceptors.
    2. Expression Profiles of ASIC1/2 and TRPV1/4 in Common Skin Tumors.
      Title: Expression Profiles of ASIC1/2 and TRPV1/4 in Common Skin Tumors.
    3. Analysis of human autoptic brain tissue in multiple sclerosis (MS) and control samples showed an increase of ASIC 2 mRNA in MS samples.
      Title: Acid sensing ion channel 2: A new potential player in the pathophysiology of multiple sclerosis.
    4. ASIC2 could be crucial in the pathogenesis of osteoporosis and could serve as a therapeutic target for antiosteoporotic therapies.
      Title: High Expression of Acid-Sensing Ion Channel 2 (ASIC2) in Bone Cells in Osteoporotic Vertebral Fractures.
    5. hippocampal glucose hypometabolism elevates ASIC2a expression by suppressing TFCP2 expression, which further enhances the intrinsic excitability of CA1 pyramidal neurons and increases seizure susceptibility in patients with temporal lobe epilepsy.
      Title: Glucose Deficiency Elevates Acid-Sensing Ion Channel 2a Expression and Increases Seizure Susceptibility in Temporal Lobe Epilepsy.
    6. Study shows that ASIC2 promotes metastasis of colorectal cancer (CRC) cells by activating the calcineurin/NFAT1 pathway under acidosis and high expression of ASIC2 predicts poor outcomes of patients with CRC.
      Title: The acid-sensing ion channel, ASIC2, promotes invasion and metastasis of colorectal cancer under acidosis by activating the calcineurin/NFAT1 axis.
    7. The authors finally confirmed that the ASIC2b isoform is delivered to the cell surface from the endoplasmic reticulum by forming heteromers with ASIC2a isoform, and that the N-terminal region of ASIC2a is additionally required for the ASIC2a-dependent membrane targeting of ASIC2b.
      Title: Acid-Sensing Ion Channel 2a (ASIC2a) Promotes Surface Trafficking of ASIC2b via Heteromeric Assembly.
    8. The ASIC2 are involved in fear behaviours, learning and memory functions, and pain sensation.
      Title: The function and regulation of acid-sensing ion channels (ASICs) and the epithelial Na(+) channel (ENaC): IUPHAR Review 19.
    9. The results show that acid-sensing ion channel 1, acid-sensing ion channel 2, and acid-sensing ion channel 3 are expressed in A549 cells at the messenger RNA and protein levels, and acid-sensing ion channel-like currents were elicited by extracellular acid stimuli.
      Title: Acid-sensing ion channels contribute to the effect of extracellular acidosis on proliferation and migration of A549 cells.
    10. ASICs may enhance susceptibility to epileptogenesis in the piriform cortex.
      Title: Altered Expression Pattern of Acid-Sensing Ion Channel Isoforms in Piriform Cortex After Seizures.
    Submit: New GeneRIF Correction See all GeneRIFs (27)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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)

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    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_001094.5 → NP_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:18 → 496
      ASC; Amiloride-sensitive sodium channel

    2. NM_183377.2 → NP_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:64 → 547
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q16515.1 GenPept UniProtKB/Swiss-Prot:Q16515

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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