Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	55584
Gene name	Cholinergic receptor nicotinic alpha 9 subunit
Gene symbol	CHRNA9
Synonyms (NCBI Gene)	HSA243342NACHRA9
Chromosome	4
Chromosome location	4p14
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

Show/Hide all (4)

miRTarBase ID	miRNA	Experiments	Reference
MIRT027427	hsa-miR-98-5p	Microarray	19088304
MIRT891925	hsa-miR-583	CLIP-seq
MIRT891926	hsa-miR-944	CLIP-seq
MIRT2200457	hsa-miR-4803	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005230	Function	Extracellular ligand-gated monoatomic ion channel activity	IEA
GO:0005231	Function	Excitatory extracellular ligand-gated monoatomic ion channel activity	IBA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005515	Function	Protein binding	IPI	25282151
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	25282151
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005892	Component	Acetylcholine-gated channel complex	IDA	11752216, 25282151
GO:0005892	Component	Acetylcholine-gated channel complex	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IGI	18420419
GO:0007210	Process	Serotonin receptor signaling pathway	IEA
GO:0007268	Process	Chemical synaptic transmission	IBA
GO:0010996	Process	Response to auditory stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IDA	25282151
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	IEA
GO:0022848	Function	Acetylcholine-gated monoatomic cation-selective channel activity	ISS
GO:0022850	Function	Serotonin-gated monoatomic cation channel activity	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IBA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IDA	11752216
GO:0042391	Process	Regulation of membrane potential	IBA
GO:0042472	Process	Inner ear morphogenesis	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0050910	Process	Detection of mechanical stimulus involved in sensory perception of sound	IEA
GO:0051899	Process	Membrane depolarization	IEA
GO:0060078	Process	Regulation of postsynaptic membrane potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0070373	Process	Negative regulation of ERK1 and ERK2 cascade	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0095500	Process	Acetylcholine receptor signaling pathway	IDA	11752216
GO:0097060	Component	Synaptic membrane	IEA
GO:0098878	Component	Neurotransmitter receptor complex	IDA	11752216
GO:0098981	Component	Cholinergic synapse	IEA
GO:0099634	Component	Postsynaptic specialization membrane	IEA
GO:1902495	Component	Transmembrane transporter complex	IBA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IBA
GO:1904315	Function	Transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential	IEA
GO:1990806	Process	Ligand-gated ion channel signaling pathway	IDA	11752216

MIM	HGNC	e!Ensembl
605116	14079	ENSG00000174343

Q9UGM1

Protein name

Neuronal acetylcholine receptor subunit alpha-9 (Nicotinic acetylcholine receptor subunit alpha-9) (NACHR alpha-9)

Protein function

Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nA

PDB

4D01 , 4UXU , 4UY2 , 6HY7

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02931	Neur_chan_LBD	31 → 237	Neurotransmitter-gated ion-channel ligand binding domain	Family
PF02932	Neur_chan_memb	244 → 475	Neurotransmitter-gated ion-channel transmembrane region	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in cochlea, keratinocytes, pituitary gland, B-cells and T-cells. {ECO:0000269|PubMed:11021840, ECO:0000269|PubMed:11752216, ECO:0000269|PubMed:15531379}.

Sequence

MNWSHSCISFCWIYFAASRLRAAETADGKYAQKLFNDLFEDYSNALRPVEDTDKVLNVTL
QITLSQIKDMDERNQILTAYLWIRQIWHDAYLTWDRDQYDGLDSIRIPSDLVWRPDIVLY
NKADDESSEPVNTNVVLRYDGLITWDAPAITKSSCVVDVTYFPFDNQQCNLTFGSWTYNG
NQVDIFNALDSGDLSDFIEDVEWEVHGMPAVKNVISYGCCSEPYPDVTFTLLLKRRSSFY
IVNLLIPCVLISFLAPLSFYLPAASGEKVSLGVTILLAMTVFQLMVAEIMPASENVPLIG
KYYIATMALITASTALTIMVMNIHFCGAEARPVPHWARVVILKYMSRVLFVYDVGESCLS
PHHSRERDHLTKVYSKLPESNLKAARNKDLSRKKDMNKRLKNDLGCQGKNPQEAESYCAQ
YKVLTRNIEYIAKCLKDHKATNSKGSEWKKVAKVIDRFFMWIFFIMVFVMTILIIARAD

Sequence length

479

Interactions

View interactions

	KEGG		Reactome
	Neuroactive ligand-receptor interaction Chemical carcinogenesis - receptor activation		Highly calcium permeable postsynaptic nicotinic acetylcholine receptors

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (13)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	25142973, 31311925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	22406075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22125646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	37533055	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	27834303	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	22280835, 22406075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25142973, 31311925		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22125646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25142973		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26575950		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	24676996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24676996		★★★★★ ★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	24401602		★★★★★ ★☆☆☆☆ Found in Text Mining only

CHRNA9 (cholinergic receptor nicotinic alpha 9 subunit)