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    CHRNA4 cholinergic receptor nicotinic alpha 4 subunit [ Homo sapiens (human) ]

    Gene ID: 1137, updated on 11-Apr-2024

    Summary

    Official Symbol
    CHRNA4provided by HGNC
    Official Full Name
    cholinergic receptor nicotinic alpha 4 subunitprovided by HGNC
    Primary source
    HGNC:HGNC:1958
    See related
    Ensembl:ENSG00000101204 MIM:118504; AllianceGenome:HGNC:1958
    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
    EBN; BFNC; EBN1; NACHR; NACRA4; NACHRA4
    Summary
    This gene encodes a nicotinic acetylcholine receptor, which belongs to a superfamily of ligand-gated ion channels that play a role in fast signal transmission at synapses. These pentameric receptors can bind acetylcholine, which causes an extensive change in conformation that leads to the opening of an ion-conducting channel across the plasma membrane. This protein is an integral membrane receptor subunit that can interact with either nAChR beta-2 or nAChR beta-4 to form a functional receptor. Mutations in this gene cause nocturnal frontal lobe epilepsy type 1. Polymorphisms in this gene that provide protection against nicotine addiction have been described. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012]
    Expression
    Biased expression in liver (RPKM 3.9), brain (RPKM 3.0) and 4 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See CHRNA4 in Genome Data Viewer
    Location:
    20q13.33
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (63343223..63361349, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (65149372..65167972, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (61974575..61992701, complement)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61924431-61924932 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61924933-61925432 Neighboring gene collagen type XX alpha 1 chain Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61952290-61952790 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:61971654-61972853 Neighboring gene RNA, U6 small nuclear 994, pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_60863 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr20:61986832-61988031 Neighboring gene uncharacterized LOC100130587 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:61992809-61993442 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62006107-62006606 Neighboring gene uncharacterized LOC124904953 Neighboring gene Sharpr-MPRA regulatory region 8221 Neighboring gene Sharpr-MPRA regulatory region 785 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:62013199-62013883 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62025225-62025986 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:62036487-62037438 Neighboring gene Sharpr-MPRA regulatory region 327 Neighboring gene uncharacterized LOC105372724 Neighboring gene potassium voltage-gated channel subfamily Q member 2

    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?

    Phenotypes

    EBI GWAS Catalog

    Description
    A genome-wide association study in chronic obstructive pulmonary disease (COPD): identification of two major susceptibility loci.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ95812

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in B cell activation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in DNA repair IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in acetylcholine receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in action potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in behavioral response to nicotine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in chemical synaptic transmission NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in cognition IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in excitatory postsynaptic potential IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in inhibitory postsynaptic potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in membrane depolarization IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in membrane depolarization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in monoatomic ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic ion transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in nervous system process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in regulation of dopamine secretion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of membrane potential ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to nicotine IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to nicotine IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to oxidative stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in sensory perception of pain ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     
    involved_in synaptic transmission, cholinergic ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    part_of acetylcholine-gated channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of acetylcholine-gated channel complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in dendrite ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in external side of plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in membrane NAS
    Non-traceable Author Statement
    more info
    PubMed 
    is_active_in neuron projection IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in neuronal cell body ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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
     

    General protein information

    Preferred Names
    neuronal acetylcholine receptor subunit alpha-4
    Names
    cholinergic receptor, nicotinic alpha 4
    cholinergic receptor, nicotinic, alpha 4 (neuronal)
    cholinergic receptor, nicotinic, alpha polypeptide 4
    neuronal nicotinic acetylcholine receptor alpha-4 subunit

    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_011931.1 RefSeqGene

      Range
      4995..23121
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000744.7NP_000735.1  neuronal acetylcholine receptor subunit alpha-4 isoform 1 precursor

      See identical proteins and their annotated locations for NP_000735.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AB209359, AK296430, AL121827, BC096291, L35901, U62433
      Consensus CDS
      CCDS13517.1
      UniProtKB/Swiss-Prot
      P43681, Q4JGR7, Q4VAQ5, Q4VAQ6
      UniProtKB/TrEMBL
      Q59FV0
      Related
      ENSP00000359285.4, ENST00000370263.9
      Conserved Domains (3) summary
      pfam02931
      Location:37243
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain
      pfam02932
      Location:250618
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
      pfam06484
      Location:423572
      Ten_N; Teneurin Intracellular Region
    2. NM_001256573.2NP_001243502.1  neuronal acetylcholine receptor subunit alpha-4 isoform 2

      See identical proteins and their annotated locations for NP_001243502.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at a downstream AUG and result in an isoform (2) with a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AB209359, AK296430, AL121827, BC096291, BC096292, L35901, U62433
      UniProtKB/TrEMBL
      Q4VAQ3, Q59FV0
      Conserved Domains (3) summary
      pfam02932
      Location:74442
      Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region
      cl26247
      Location:216320
      DNA_pol3_delta2; DNA polymerase III, delta subunit
      cl27321
      Location:167
      Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

    RNA

    1. NR_046317.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate 5' splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB209359, AK296430, AL121827, BC096291, BC096293, L35901, U62433

    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_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      63343223..63361349 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      65149372..65167972 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)