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    CHRNA2 cholinergic receptor nicotinic alpha 2 subunit [ Homo sapiens (human) ]

    Gene ID: 1135, updated on 11-Jun-2021

    Summary

    Official Symbol
    CHRNA2provided by HGNC
    Official Full Name
    cholinergic receptor nicotinic alpha 2 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:1956
    See related
    Ensembl:ENSG00000120903 MIM:118502
    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
    Summary
    Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. [provided by RefSeq, Nov 2009]
    Expression
    Restricted expression toward prostate (RPKM 15.4) See more
    Orthologs
    NEW
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    Genomic context

    See CHRNA2 in Genome Data Viewer
    Location:
    8p21.2
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (27459756..27479285, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27317273..27336778, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene protein tyrosine kinase 2 beta Neighboring gene Sharpr-MPRA regulatory region 13363 Neighboring gene microRNA 6842 Neighboring gene CRISPRi-validated cis-regulatory element chr8.973 Neighboring gene epoxide hydrolase 2 Neighboring gene gulonolactone (L-) oxidase, pseudogene

    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylcholine receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables acetylcholine-gated cation-selective channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables neurotransmitter receptor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chemical synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in nervous system process IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in response to nicotine IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in synaptic transmission, cholinergic IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of acetylcholine-gated channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in integral component of membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in integral component of plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    neuronal acetylcholine receptor subunit alpha-2
    Names
    acetylcholine receptor, nicotinic, alpha 2 (neuronal)
    cholinergic receptor, nicotinic alpha 2
    cholinergic receptor, nicotinic, alpha 2 (neuronal)
    cholinergic receptor, nicotinic, alpha polypeptide 2 (neuronal)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_015827.1 RefSeqGene

      Range
      5036..24541
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000742.4NP_000733.2  neuronal acetylcholine receptor subunit alpha-2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000733.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
      Source sequence(s)
      AF311103, AW292180, CD013901, DA096824, DA407151, U62431
      Consensus CDS
      CCDS6059.1
      UniProtKB/Swiss-Prot
      Q15822
      Related
      ENSP00000385026.1, ENST00000407991.3
      Conserved Domains (3) summary
      TIGR00860
      Location:57522
      LIC; Cation transporter family protein
      pfam02931
      Location:59265
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:272520
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    2. NM_001282455.2NP_001269384.1  neuronal acetylcholine receptor subunit alpha-2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
      Source sequence(s)
      AF311103, AK296348, AW292180
      Consensus CDS
      CCDS64856.1
      UniProtKB/Swiss-Prot
      Q15822
      Related
      ENSP00000240132.2, ENST00000240132.7
      Conserved Domains (3) summary
      TIGR00860
      Location:57507
      LIC; Cation transporter family protein
      pfam02931
      Location:59250
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:257505
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
    3. NM_001347705.2NP_001334634.1  neuronal acetylcholine receptor subunit alpha-2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3), as well as variant 4, encodes isoform 3.
      Source sequence(s)
      AF311103
    4. NM_001347706.2NP_001334635.1  neuronal acetylcholine receptor subunit alpha-2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4), as well as variant 3, encodes isoform 3.
      Source sequence(s)
      AF311103
    5. NM_001347707.2NP_001334636.1  neuronal acetylcholine receptor subunit alpha-2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5), as well as variant 6, encodes isoform 4.
      Source sequence(s)
      AF311103
    6. NM_001347708.2NP_001334637.1  neuronal acetylcholine receptor subunit alpha-2 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variant 5, encodes isoform 4.
      Source sequence(s)
      AF311103, AK314787, DA407151

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

      Range
      27459756..27479285 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011544389.2XP_011542691.1  neuronal acetylcholine receptor subunit alpha-2 isoform X1

      Conserved Domains (2) summary
      pfam02931
      Location:167
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:74322
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
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