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CHRNA3

Chr 15q25.1

cholinergic receptor nicotinic alpha 3 subunit

MANE:
ENST00000326828.6
OMIM: 118503 ↗NCBI: 1136 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • CAKUT

    BIALLELIC, autosomal or pseudoautosomal

  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

  • Paediatric disorders - additional genes

    BIALLELIC, autosomal or pseudoautosomal

  • Hereditary neuropathy or pain disorder

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • urinary bladder, atony of

    0.73

  • congenital anomaly of kidney and urinary tract

    0.55

  • chronic obstructive pulmonary disease

    0.54

  • hypertensive disorder

    0.48

  • dysautonomia

    0.46

  • schizophrenia

    0.44

  • chronic lung disease

    0.42

  • hereditary disease

    0.41

  • aneurysm

    0.40

  • amyotrophic lateral sclerosis

    0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Neuronal acetylcholine receptor subunit alpha-3

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 nAChR subunits known to mediate synaptic transmission in the nervous system and the neuromuscular junction. Each nAchR subunit confers differential attributes to channel properties, including activation, deactivation and desensitization kinetics, pH sensitivity, cation permeability, and binding to allosteric modulators (PubMed:31488329, PubMed:31708116). CHRNA3 forms heteropentameric neuronal acetylcholine receptors with CHRNB2 and CHRNB4, with CHRNA5, and CHRNB3 as accesory subunits (PubMed:20881005, PubMed:8663494). CHRNA3:CHRNB4 being predominant in neurons of the autonomic ganglia, it is known as ganglionic nicotinic receptor (PubMed:31488329). CHRNA3:CHRNB4 or CHRNA3:CHRNA5:CHRNB4 play also an important role in the habenulo-interpeduncular tract, modulating the mesolimbic dopamine system and affecting reward circuits and addiction (By similarity). Hypothalamic CHRNA3:CHRNB4 nAChR activation by nicotine leads to activation of POMC neurons and a decrease in food intake (By similarity). Also expressed in the urothelium where it modulates reflex bladder activity by increasing intracellular calcium through extracellular influx and basal ATP release (By similarity)

Diseases associated with CHRNA3

Curated MONDO disease pages that list CHRNA3 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.