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    ASIC4 acid sensing ion channel subunit family member 4 [ Homo sapiens (human) ]

    Gene ID: 55515, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ASIC4provided by HGNC
    Official Full Name
    acid sensing ion channel subunit family member 4provided by HGNC
    Primary source
    HGNC:HGNC:21263
    See related
    Ensembl:ENSG00000072182 MIM:606715; AllianceGenome:HGNC:21263
    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
    ACCN4; BNAC4
    Summary
    This gene belongs to the superfamily of acid-sensing ion channels, which are proton-gated, amiloride-sensitive sodium channels. These channels have been implicated in synaptic transmission, pain perception as well as mechanoperception. This gene is predominantly expressed in the pituitary gland, and was considered a candidate for paroxysmal dystonic choreoathetosis (PDC), a movement disorder, however, no correlation was found between mutations in this gene and PDC. [provided by RefSeq, Feb 2012]
    Expression
    Biased expression in brain (RPKM 5.1), adrenal (RPKM 0.8) and 1 other tissue See more
    Orthologs
    mouse all
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    Genomic context

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    See ASIC4 in Genome Data Viewer
    Location:
    2q35
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219507093..219538772)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219991838..220023471)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220379204..220403494)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ASIC4 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 15624 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220361035-220361852 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220361853-220362670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220362671-220363488 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17153 Neighboring gene SPEG neighbor Neighboring gene GDP-mannose pyrophosphorylase A Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17154 Neighboring gene GATA motif-containing MPRA enhancer 279/280 Neighboring gene Sharpr-MPRA regulatory region 4906 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:220377201-220377842 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:220379127-220379302 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220387632-220388132 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220388133-220388633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220396965-220397562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402386-220402940 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:220402941-220403496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12358 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12359 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12360 Neighboring gene chondroitin polymerizing factor Neighboring gene transmembrane protein 198 Neighboring gene microRNA 3132 Neighboring gene obscurin like cytoskeletal adaptor 1

    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 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. Acid-sensing ion channel (ASIC) 4 predominantly localizes to an early endosome-related organelle upon heterologous expression. Schwartz V, et al. Sci Rep, 2015 Dec 15. PMID 26667795, Free PMC Article
    2. Acid-sensing ion channel (ASIC) 4 gene: physical mapping, genomic organisation, and evaluation as a candidate for paroxysmal dystonia. Gründer S, et al. Eur J Hum Genet, 2001 Sep. PMID 11571555
    3. Regulation of ASIC activity by ASIC4--new insights into ASIC channel function revealed by a yeast two-hybrid assay. Donier E, et al. Eur J Neurosci, 2008 Jul. PMID 18662336
    4. A new member of acid-sensing ion channels from pituitary gland. Gründer S, et al. Neuroreport, 2000 Jun 5. PMID 10852210
    5. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article

    See all (17) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Acid-sensing ion channel (ASIC) 4 predominantly localizes to an early endosome-related organelle upon heterologous expression
      Title: Acid-sensing ion channel (ASIC) 4 predominantly localizes to an early endosome-related organelle upon heterologous expression.
    2. Data show that transfected ASIC4 is targeted to the plasma membrane in CHO-K1 cells, where it associates with ASIC1a and downregulates exogenous ASIC1a expression.
      Title: Regulation of ASIC activity by ASIC4--new insights into ASIC channel function revealed by a yeast two-hybrid assay.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Clone Names

    • MGC17248, MGC24860

    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 channel activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sodium ion transmembrane transporter activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in behavioral fear response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sodium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    acid-sensing ion channel 4
    Names
    acid sensing ion channel family member 4
    acid-sensing (proton-gated) ion channel family member 4
    amiloride-sensitive cation channel 4, pituitary
    amiloride-sensitive cation channel family member 4, pituitary
    brain sodium channel 4

    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.

    mRNA and Protein(s)

    1. NM_018674.6 → NP_061144.4  acid-sensing ion channel 4 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC009955, AC053503
      Consensus CDS
      CCDS33384.2
      UniProtKB/Swiss-Prot
      Q53SB7, Q6GMS1, Q6PIN9, Q96FT7, Q9NQA4
      UniProtKB/TrEMBL
      A0A8I5KPF5
      Related
      ENSP00000350786.5, ENST00000358078.5
      Conserved Domains (1) summary
      cl02990
      Location:40 → 488
      ASC; Amiloride-sensitive sodium channel

    2. NM_182847.3 → NP_878267.3  acid-sensing ion channel 4 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AC009955, BC010439
      Consensus CDS
      CCDS2442.2
      Related
      ENSP00000326627.4, ENST00000347842.8
      Conserved Domains (1) summary
      cl02990
      Location:40 → 469
      ASC; Amiloride-sensitive sodium channel

    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_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      219507093..219538772
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047444917.1 → XP_047300873.1  acid-sensing ion channel 4 isoform X3

    2. XM_047444916.1 → XP_047300872.1  acid-sensing ion channel 4 isoform X2

    3. XM_047444915.1 → XP_047300871.1  acid-sensing ion channel 4 isoform X1

    4. XM_017004439.2 → XP_016859928.1  acid-sensing ion channel 4 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      219991838..220023471
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054342837.1 → XP_054198812.1  acid-sensing ion channel 4 isoform X5

    2. XM_054342839.1 → XP_054198814.1  acid-sensing ion channel 4 isoform X7

    3. XM_054342838.1 → XP_054198813.1  acid-sensing ion channel 4 isoform X6

    4. XM_054342840.1 → XP_054198815.1  acid-sensing ion channel 4 isoform X4

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96FT7.3 GenPept UniProtKB/Swiss-Prot:Q96FT7

    Gene LinkOut

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

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