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CHRM3 (cholinergic receptor muscarinic 3)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1131
Gene nameGene Name - the full gene name approved by the HGNC.
Cholinergic receptor muscarinic 3
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
CHRM3
SynonymsGene synonyms aliases
EGBRS, HM3, PBS, m3AChR
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q43
SummarySummary 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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs587776862 GCCTGAGGAGGA>T Pathogenic Genic downstream transcript variant, coding sequence variant, frameshift variant
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Atrial septal defect Atrial Septal Defects rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 30804561
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049
Cryptorchidism Cryptorchidism, Bilateral Cryptorchidism, Unilateral Cryptorchidism, Abdominal Cryptorchidism rs121912555, rs104894697, rs104894698, rs398122886 22077972
Unknown
Disease name Disease term dbSNP ID References
Abnormal spinal segmentation Defect of vertebral segmentation
Congenital clubfoot Congenital clubfoot
Developmental dysplasia of the hip Congenital Dysplasia Of The Hip
Congenital malrotation of intestine Congenital malrotation of intestine

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