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

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; AllianceGenome:HGNC:14079
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: mouse all
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Genomic context

Location:: 4p14

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (40335333..40355217)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (40309008..40328903)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (40337350..40357234)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Hair cell alpha9alpha10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products.
Title: Hair cell α9α10 nicotinic acetylcholine receptor functional expression regulated by ligand binding and deafness gene products.
REVIEW: details the history and state of the field regarding the role that alpha9-containing nAChRs may play in neuropathic pain
Title: α9-containing nicotinic acetylcholine receptors and the modulation of pain.
phosphocholine inhibits ion-channel function of ATP receptor P2X7 in monocytic cells via nAChR containing alpha9 and alpha10 subunits.
Title: Phosphocholine - an agonist of metabotropic but not of ionotropic functions of α9-containing nicotinic acetylcholine receptors.
Behavioural and physiological stress-induced changes observed in alpha9-nAChR KO mice demonstrate a novel role of the alpha9alpha10-nAChR in mounting a normal stress response. The lack of functioning alpha9alpha10-nAChRs leads to negative affective changes after a relatively short period of stress. KO mice exhibited unusual patterns of circadian activity and a dysfunction in reward seeking after a period of reduced acc...
Title: α9-nAChR knockout mice exhibit dysregulation of stress responses, affect and reward-related behaviour.
Chemotherapy induced cold allodynia is reduced in alpha 9 knockout mice.
Title: Inhibition of α9α10 nicotinic acetylcholine receptors prevents chemotherapy-induced neuropathic pain.
The rare variants in CHRNA9 were significantly associated with smoking status.
Title: The contribution of rare and common variants in 30 genes to risk nicotine dependence.
Our findings support a significant interaction effect existing between the CHRNA9 gene and smoking exposure on the risk of breast cancer development.
Title: CHRNA9 polymorphisms and smoking exposure synergize to increase the risk of breast cancer in Taiwan.
CHRNA9 polymorphisms are associated with non-small cell lung cancer.
Title: Neuronal acetylcholine receptor subunit alpha-9 (CHRNA9) polymorphisms are associated with NSCLC risk in a Chinese population.
Thia case-control analysis revealed that an increased risk of lung cancer is associated with two SNPs in CHRNA9, rs56159866 and rs6819385.
Title: New associations of the genetic polymorphisms in nicotinic receptor genes with the risk of lung cancer.
Data suggest that the biologic activities of Alpha9 nicotinic receptor (CHRNA9) may be regulated at the splicing level, and genetic polymorphisms in CHRNA9 affecting protein levels, amino acid sequence and RNA splicing may influence the risk for lung cancer.
Title: Naturally occurring variants of human Α9 nicotinic receptor differentially affect bronchial cell proliferation and transformation.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies two new risk loci for Graves' disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association studies and heritability estimates of body mass index related phenotypes in bangladeshi adults. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC151834P1 (e-PCR)
- UniSTS:271184

SHGC-7571 (e-PCR)
- UniSTS:80730

D4S405 (e-PCR), detects polymorphism
- UniSTS:46702

D4S405 (e-PCR), detects polymorphism
- UniSTS:18299

G33900 (e-PCR)
- UniSTS:78209

SHGC-152685 (e-PCR)
- UniSTS:177586

NoName (e-PCR)
- UniSTS:485586

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables acetylcholine-gated monoatomic cation-selective channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables acetylcholine-gated monoatomic cation-selective channel activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel activity	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in chemical synaptic transmission	IBA Inferred from Biological aspect of Ancestor more info
involved_in detection of mechanical stimulus involved in sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in excitatory postsynaptic potential	IEA Inferred from Electronic Annotation more info
involved_in inner ear morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in membrane depolarization	IEA Inferred from Electronic Annotation more info
involved_in monoatomic ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of cytosolic calcium ion concentration	IGI Inferred from Genetic Interaction more info	PubMed
involved_in regulation of membrane potential	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to auditory stimulus	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of acetylcholine-gated channel complex	IDA Inferred from Direct Assay more info	PubMed
is_active_in neuron projection	IBA Inferred from Biological aspect of Ancestor more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay 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
part_of transmembrane transporter complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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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)

NM_017581.4 → NP_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

Q14CY7, Q4W5A2, Q9NYV2, Q9UGM1

Related

ENSP00000312663.2, ENST00000310169.3

Conserved Domains (3) summary

TIGR00860
Location:10 → 474

LIC; Cation transporter family protein

pfam02931
Location:31 → 236

Neur_chan_LBD; Neurotransmitter-gated ion-channel ligand binding domain

pfam02932
Location:244 → 474

Neur_chan_memb; Neurotransmitter-gated ion-channel transmembrane region