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

Gene ID: 1135, updated on 15-Apr-2019

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

Genomic context

See CHRNA2 in Genome Data Viewer
Location:
8p21.2
Exon count:
8
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (27459761..27479296, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (27317278..27336813, complement)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene tripartite motif containing 35 Neighboring gene protein tyrosine kinase 2 beta Neighboring gene microRNA 6842 Neighboring gene epoxide hydrolase 2 Neighboring gene gulonolactone (L-) oxidase, pseudogene Neighboring gene microRNA 6843 Neighboring gene clusterin

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 FunctionsWhat's a GeneRIF?

Pathways from BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylcholine binding IEA
Inferred from Electronic Annotation
more info
 
acetylcholine receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
acetylcholine-gated cation-selective channel activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to extracellular ligand-gated ion channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
chemical synaptic transmission IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
excitatory postsynaptic potential IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ion transport NAS
Non-traceable Author Statement
more info
PubMed 
nervous system process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein heterooligomerization IEA
Inferred from Electronic Annotation
more info
 
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 
signal transduction IDA
Inferred from Direct Assay
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
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neuron projection IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
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)

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
    5001..24536
    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_001282455.1NP_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_001347705.1NP_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_001347706.1NP_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_001347707.1NP_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_001347708.1NP_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 Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    27459761..27479296 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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