Display Settings:

Format

Send to:

Choose Destination
    • Showing Current items.

    CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal) [ Homo sapiens (human) ]

    Gene ID: 1138, updated on 26-Jun-2015
    Official Symbol
    CHRNA5provided by HGNC
    Official Full Name
    cholinergic receptor, nicotinic, alpha 5 (neuronal)provided by HGNC
    Primary source
    HGNC:HGNC:1959
    See related
    Ensembl:ENSG00000169684; HPRD:00334; MIM:118505; Vega:OTTHUMG00000143858
    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
    LNCR2
    Summary
    The protein encoded by this gene is a nicotinic acetylcholine receptor subunit and a member of a superfamily of ligand-gated ion channels that mediate fast signal transmission at synapses. These receptors are thought to be heteropentamers composed of separate but similar subunits. Defects in this gene have been linked to susceptibility to lung cancer type 2 (LNCR2).[provided by RefSeq, Jun 2010]
    Orthologs
    See CHRNA5 in Epigenomics, MapViewer
    Location:
    15q24
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 15 NC_000015.10 (78565520..78595269)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (78857862..78887611)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene hydroxylysine kinase Neighboring gene proteasome (prosome, macropain) subunit, alpha type, 4 Neighboring gene cholinergic receptor, nicotinic, alpha 3 (neuronal) Neighboring gene cholinergic receptor, nicotinic, beta 4 (neuronal) Neighboring gene ribosomal protein L18 pseudogene 11

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Smoking as a quantitative trait locus 3
    MedGen: C3150168 OMIM: 612052 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.
    NHGRI GWA Catalog
    A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.
    NHGRI GWA Catalog
    A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma.
    NHGRI GWA Catalog
    A susceptibility locus for lung cancer maps to nicotinic acetylcholine receptor subunit genes on 15q25.
    NHGRI GWA Catalog
    A variant associated with nicotine dependence, lung cancer and peripheral arterial disease.
    NHGRI GWA Catalog
    Beyond cigarettes-per-day: A genome-wide association study of the biomarker carbon monoxide.
    NHGRI GWA Catalog
    Biological insights from 108 schizophrenia-associated genetic loci.
    NHGRI GWA Catalog
    Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
    NHGRI GWA Catalog
    Familial aggregation of common sequence variants on 15q24-25.1 in lung cancer.
    NHGRI GWA Catalog
    Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.
    NHGRI GWA Catalog
    Genome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
    NHGRI GWA Catalog
    Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1.
    NHGRI GWA Catalog
    Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction.
    NHGRI GWA Catalog
    Genome-wide meta-analyses of smoking behaviors in African Americans.
    NHGRI GWA Catalog
    Meta-analysis and imputation refines the association of 15q25 with smoking quantity.
    NHGRI GWA Catalog
    Variants in FAM13A are associated with chronic obstructive pulmonary disease.
    NHGRI GWA Catalog
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    contributes_to acetylcholine binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acetylcholine receptor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acetylcholine-activated cation-selective channel activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    acetylcholine-activated cation-selective channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    ligand-gated ion channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein heterodimerization activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    behavioral response to nicotine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cation transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    cation transmembrane transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    cation transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
    PubMed 
    neurological system process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neuromuscular synaptic transmission IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    regulation of membrane potential IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    signal transduction NAS
    Non-traceable Author Statement
    more info
    PubMed 
    synaptic transmission TAS
    Traceable Author Statement
    more info
    PubMed 
    synaptic transmission, cholinergic IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    acetylcholine-gated channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acetylcholine-gated channel complex IC
    Inferred by Curator
    more info
    PubMed 
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    dendrite IEA
    Inferred from Electronic Annotation
    more info
     
    neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    neuronal cell body IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    postsynaptic membrane IEA
    Inferred from Electronic Annotation
    more info
     
    synapse IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    neuronal acetylcholine receptor subunit alpha-5
    Names
    neuronal acetylcholine receptor subunit alpha-5
    Cholinergic receptor, neuronal nicotinic, alpha polypeptide-5
    acetylcholine receptor, nicotinic, alpha 5 (neuronal)
    neuronal nicotinic acetylcholine receptor, alpha5 subunit

    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_023328.1 RefSeqGene

      Range
      5001..34750
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000745.3NP_000736.2  neuronal acetylcholine receptor subunit alpha-5 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000736.2

      Status: REVIEWED

      Description
      Transcript Variant: his variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AJ584706, BC033639, BM839817
      Consensus CDS
      CCDS10304.1
      UniProtKB/Swiss-Prot
      P30532
      UniProtKB/TrEMBL
      Q6EWN4
      Related
      ENSP00000299565, OTTHUMP00000185019, ENST00000299565, OTTHUMT00000290106
      Conserved Domains (3) summary
      pfam02931
      Location:47250
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:257447
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
      TIGR00860
      Location:39449
      LIC; Cation transporter family protein
    2. NM_001307945.1NP_001294874.1  neuronal acetylcholine receptor subunit alpha-5 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001294874.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region, which results in a frameshift, compared to variant 1. It encodes isoform 2, which has a shorter and distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AC027228, AJ584706, BM839817, BX332469
      Consensus CDS
      CCDS76786.1

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p2 Primary Assembly

      Range
      78565520..78595269
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005254142.2XP_005254199.1  

      See identical proteins and their annotated locations for XP_005254199.1

      Conserved Domains (1) summary
      pfam02931
      Location:47235
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
    2. XM_011521174.1XP_011519476.1  

      Conserved Domains (1) summary
      pfam02931
      Location:47154
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018926.2 Alternate CHM1_1.1

      Range
      78976380..79006179
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)