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.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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.
|
|
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 |
Epilepsy |
Epilepsy |
rs113994140, rs119454947, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs1805032, rs387906420, rs121917752, rs121918622, rs121434579, rs1581220270, rs281865564, rs387907313, rs397514564, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777363, rs587777364, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs1554169267, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532 |
22949513 |
Patent ductus arteriosus |
Patent ductus arteriosus |
rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872 |
|
Prune belly syndrome |
Prune Belly Syndrome |
rs587776862, rs1597782599, rs1597802479, rs1603359205, rs1603359091 |
22077972 |
Renal insufficiency |
Renal Insufficiency |
rs1596536873 |
|
Scoliosis |
Scoliosis, unspecified |
rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085 |
|
Tetralogy of fallot |
Tetralogy of Fallot |
rs28939668, rs727504412, rs864321649, rs774966208, rs876660981, rs886044220, rs1114167357, rs1569484126, rs1569484164, rs1569484122, rs1569484124, rs1569484042, rs1569484120, rs1569484299, rs1569484301, rs1569484288 |
|
Ventricular septal defect |
Ventricular Septal Defects |
rs104894073, rs387906775 |
|
Vesicoureteral reflux |
Vesico-Ureteral Reflux |
rs587777684, rs148731211 |
|
|
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 |
|
|
Congenital pectus carinatum |
Congenital pectus carinatum |
|
|
Congenital pectus excavatum |
Congenital pectus excavatum |
|
|
Congenital posterior urethral valves |
Congenital posterior urethral valves |
|
|
Hydronephrosis |
Hydronephrosis |
|
|
Impaired cognition |
Impaired cognition |
|
|
Imperforate anus |
Anus, Imperforate |
|
|
Intestinal atresia |
Intestinal Atresia |
|
|
Intestinal volvulus |
Intestinal Volvulus |
|
|
Liver cirrhosis |
Liver Cirrhosis |
|
20197374 |
Liver fibrosis |
Fibrosis, Liver |
|
20197374 |
Mental depression |
Major Depressive Disorder |
rs587778876, rs587778877 |
30219690 |
Multicystic renal dysplasia |
Multicystic Dysplastic Kidney |
|
|
Urethral obstruction |
Urethral obstruction sequence |
|
22077972 |
Urinary bladder diseases |
Urinary Bladder Diseases |
|
22077972 |
Uterine anomalies |
Uterine Anomalies |
|
|
|
|
|