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    CHRNA9 cholinergic receptor nicotinic alpha 9 subunit [ Homo sapiens (human) ]

    Gene ID: 55584, updated on 9-Sep-2018

    Summary

    Official Symbol
    CHRNA9provided by HGNC
    Official Full Name
    cholinergic receptor nicotinic alpha 9 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:14079
    See related
    Ensembl:ENSG00000174343 MIM:605116; Vega:OTTHUMG00000099375
    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
    NACHRA9; HSA243342
    Summary
    This gene is a member of the ligand-gated ionic channel family and nicotinic acetylcholine receptor gene superfamily. It encodes a plasma membrane protein that forms homo- or hetero-oligomeric divalent cation channels. This protein is involved in cochlea hair cell development and is also expressed in the outer hair cells (OHCs) of the adult cochlea. [provided by RefSeq, Feb 2012]
    Expression
    Low expression observed in reference dataset See more
    Orthologs

    Genomic context

    See CHRNA9 in Genome Data Viewer
    Location:
    4p14
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 4 NC_000004.12 (40335329..40355217)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (40337346..40357234)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ras homolog family member H Neighboring gene long intergenic non-protein coding RNA 2265 Neighboring gene RNA, U7 small nuclear 74 pseudogene Neighboring gene HNF1 motif-containing MPRA enhancer 253

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide association study identifies two new risk loci for Graves' disease.
    NHGRI GWA Catalog
    Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC142109, MGC142135

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    acetylcholine-gated cation-selective channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to extracellular ligand-gated ion channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    ligand-gated ion channel activity TAS
    Traceable Author Statement
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    transmembrane signaling receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    detection of mechanical stimulus involved in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    inner ear morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    negative regulation of ERK1 and ERK2 cascade IEA
    Inferred from Electronic Annotation
    more info
     
    nervous system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    positive regulation of cytosolic calcium ion concentration IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    acetylcholine-gated channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cholinergic synapse IEA
    Inferred from Electronic Annotation
    more info
     
    integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    integral component of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of postsynaptic specialization membrane IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    neuronal acetylcholine receptor subunit alpha-9
    Names
    NACHR alpha 9
    acetylcholine receptor, neuronal nicotinic, alpha-9 subunit
    cholinergic receptor, nicotinic alpha 9
    cholinergic receptor, nicotinic, alpha 9 (neuronal)
    cholinergic receptor, nicotinic, alpha polypeptide 9
    neuronal acetylcholine receptor protein, alpha-9 subunit
    nicotinic acetylcholine receptor subunit alpha 9

    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_017581.3NP_060051.2  neuronal acetylcholine receptor subunit alpha-9 precursor

      See identical proteins and their annotated locations for NP_060051.2

      Status: REVIEWED

      Source sequence(s)
      AC118275, AF227732, AJ243342, BC113549, BG218331, BP870578
      Consensus CDS
      CCDS3459.1
      UniProtKB/Swiss-Prot
      Q9UGM1
      Related
      ENSP00000312663.2, OTTHUMP00000125215, ENST00000310169.2, OTTHUMT00000216822
      Conserved Domains (3) summary
      TIGR00860
      Location:10474
      LIC; Cation transporter family protein
      pfam02931
      Location:31236
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:244474
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p12 Primary Assembly

      Range
      40335329..40355217
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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