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FLASH GENE
Symbol CHRM3 contributors: mct/ - updated : 13-05-2020
HGNC name cholinergic receptor, muscarinic 3
HGNC id 1952
ASSOCIATED DISORDERS
corresponding disease(s) PBLS , DUP1QD
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral     --over  
in colon cancer
constitutional       gain of function
delayed cardiac aging by inhibiting the CASP1/IL1B signaling pathway
tumoral     --over  
in colon cancer
tumoral     --over  
in gastric cancer (GC) tissues and was correlated with the cancer stage and with lymph node metastasis
Susceptibility
  • to type 2 diabetes
  • to elevated blood pressure (BP)
  • Variant & Polymorphism other
  • polymorphisms increasing the risk of early-onset type 2 diabetes
  • a CHRM3-coding variation increased M3R signaling, correlating with higher BP
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    respiratory  
    may be important therapeutic target for obstructive airway diseases, as it regulates the effects of the epithelial-derived chemokines on airway smooth muscle (ASM) cell migration (PMID: 26956674)
    ANIMAL & CELL MODELS
  • megacystis is present in younger Chrm3 mutant mice, and the hypocontractile bladder phenotype is very similar to humans with CHRM3 mutations
  • the loss of NOSTRIN in mice leads to endothelial dysfunction, increased blood pressure, and diastolic heart failure
  • Chrm1 and Chrm3 double knockout chronically diminishes REM sleep to an almost undetectable level