Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1131
Gene name Gene Name - the full gene name approved by the HGNC.
Cholinergic receptor muscarinic 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHRM3
Synonyms (NCBI Gene) Gene synonyms aliases
EGBRS, HM3, PBS, m3AChR
Disease Acronyms (UniProt) Disease acronyms from UniProt database
PBS
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q43
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003056 Process Regulation of vascular associated smooth muscle contraction IBA 21873635
GO:0004435 Function Phosphatidylinositol phospholipase C activity TAS 1905013
GO:0004993 Function G protein-coupled serotonin receptor activity IBA 21873635
GO:0005515 Function Protein binding IPI 19575010, 20398705, 21056967
GO:0005789 Component Endoplasmic reticulum membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
118494 1952 ENSG00000133019
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074
View all (25 more)
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321
View all (13 more)
Cryptorchidism Cryptorchidism, Bilateral Cryptorchidism, Unilateral Cryptorchidism, Abdominal Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886 22077972
Epilepsy Epilepsy rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
22949513
Unknown
Disease term Disease name Evidence References Source
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease 30804561 ClinVar
Mental depression Major Depressive Disorder 30219690 ClinVar
Schizophrenia Schizophrenia GWAS
Hypertension Hypertension GWAS
Associations from Text Mining
Disease Name Relationship Type References
Acute cholinergic dysautonomia Inhibit 35967390
Alzheimer Disease Inhibit 36475335
Asthma Associate 28166213
Astrocytoma Associate 16280122
Calcinosis Cutis Stimulate 28416748
Carcinogenesis Associate 25964092, 36919835
Carcinoma Non Small Cell Lung Associate 25964092
Carcinoma Renal Cell Inhibit 31862408
Colorectal Neoplasms Associate 21273532, 28416748, 36919835
Depressive Disorder Associate 30219690