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

Gene ID: 55584, updated on 2-Mar-2021

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
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
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Genomic context

See CHRNA9 in Genome Data Viewer
Location:
4p14
Exon count:
5
Annotation release Status Assembly Chr Location
109.20210226 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (40335333..40355217)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (40337350..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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies two new risk loci for Graves' disease.
GeneReviews: Not available
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults.
GeneReviews: Not available

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acetylcholine-gated cation-selective channel activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium channel activity IEA
Inferred from Electronic Annotation
more info
 
neurotransmitter receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 
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)

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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_017581.4NP_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, ENST00000310169.3
    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 Updated Annotation Release 109.20210226

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    40335333..40355217
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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