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

Gene ID: 55515, updated on 11-Apr-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
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Genomic context

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Location:
2q35
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (219507093..219538772)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (219991838..220023471)
105.20220307 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
  • 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 (15) 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
  
located_in plasma membrane TAS
Traceable Author Statement
more info
 PubMed 

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_2023_10

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

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