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

Gene ID: 55515, updated on 18-Aug-2020

Summary

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
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

Genomic context

See ASIC4 in Genome Data Viewer
Location:
2q35
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (219514482..219538772)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (220378892..220403494)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ASIC4 antisense RNA 1 Neighboring gene GDP-mannose pyrophosphorylase A Neighboring gene GATA motif-containing MPRA enhancer 279/280 Neighboring gene chondroitin polymerizing factor Neighboring gene transmembrane protein 198 Neighboring gene microRNA 3132

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC17248, MGC24860

Gene Ontology Provided by GOA

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

General protein information

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)

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_018674.6NP_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
    CCDS33384.1
    Related
    ENSP00000350786.4, ENST00000358078.4
  2. NM_182847.3NP_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
    CCDS2442.1
    Related
    ENSP00000326627.3, ENST00000347842.7

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    219514482..219538772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004439.1XP_016859928.1  acid-sensing ion channel 4 isoform X1

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