Gene Gene information from NCBI Gene database.
Entrez ID 1131
Gene name Cholinergic receptor muscarinic 3
Gene symbol CHRM3
Synonyms (NCBI Gene)
EGBRSHM3PBSm3AChR
Chromosome 1
Chromosome location 1q43
Summary The muscarinic cholinergic receptors belong to a larger family of G protein-coupled receptors. The functional diversity of these receptors is defined by the binding of acetylcholine and includes cellular responses such as adenylate cyclase inhibition, pho
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs587776862 GCCTGAGGAGGA>T Pathogenic Genic downstream transcript variant, coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
344
miRTarBase ID miRNA Experiments Reference
MIRT018504 hsa-miR-335-5p Microarray 18185580
MIRT038434 hsa-miR-296-3p CLASH 23622248
MIRT524478 hsa-miR-4789-3p HITS-CLIP 21572407
MIRT524477 hsa-miR-4643 HITS-CLIP 21572407
MIRT524476 hsa-miR-5011-5p HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity IEA
GO:0004435 Function Phosphatidylinositol-4,5-bisphosphate phospholipase C activity TAS 1905013
GO:0004930 Function G protein-coupled receptor activity IEA
GO:0005515 Function Protein binding IPI 19575010, 20398705, 21056967
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
118494 1952 ENSG00000133019
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P20309
Protein name Muscarinic acetylcholine receptor M3
Protein function 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 effec
PDB 2CSA , 8E9W , 8E9Y , 8E9Z , 8EA0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 85 544 7 transmembrane receptor (rhodopsin family) Family
Sequence
Sequence length 590
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Calcium signaling pathway
Neuroactive ligand-receptor interaction
Cholinergic synapse
Taste transduction
Regulation of actin cytoskeleton
Insulin secretion
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
  Muscarinic acetylcholine receptors
G alpha (q) signalling events
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Prune belly syndrome Pathogenic rs587776862, rs1680093659 RCV000022466
RCV001251074
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRM3-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Abdominal Cryptorchidism Cryptorchidism CTD_human_DG 22077972
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 30655906
★☆☆☆☆
Found in Text Mining only
Acute myelomonocytic leukemia Myelomonocytic Leukemia BEFREE 30655906
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 28416748
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 28416748, 30682058
★☆☆☆☆
Found in Text Mining only
Adenoma of large intestine Colorectal adenoma BEFREE 30682058
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 27876571
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 30655906
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 20553297, 30851701
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia BEFREE 22186213
★☆☆☆☆
Found in Text Mining only