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CHRM3

Chr 1q43

cholinergic receptor muscarinic 3

Aliases:
m3AChR
MANE:
ENST00000676153.1

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • CAKUT

    BIALLELIC, autosomal or pseudoautosomal
  • Unexplained kidney failure in young people

    BIALLELIC, autosomal or pseudoautosomal
  • Unexplained young onset end-stage renal disease - additional genes

    BIALLELIC, autosomal or pseudoautosomal
  • Fetal anomalies

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • prune belly syndrome

    0.70
  • chronic obstructive pulmonary disease

    0.67
  • gastrointestinal disease

    0.66
  • Hyperhidrosis

    0.63
  • seasonal allergic rhinitis

    0.62
  • overactive bladder

    0.61
  • asthma

    0.61
  • Urinary incontinence

    0.60
  • urgency urinary incontinence

    0.59
  • pulmonary emphysema

    0.59

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

Protein function (UniProt)

Muscarinic acetylcholine receptor M3

The muscarinic acetylcholine receptor mediates various cellular responses, including inhibition of adenylate cyclase, breakdown of phosphoinositides and modulation of potassium channels through the action of G proteins. Primary transducing effect is Pi turnover

Curated MONDO disease pages that list CHRM3 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.