CHRNB1 (cholinergic receptor nicotinic beta 1 subunit)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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1140 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Cholinergic receptor nicotinic beta 1 subunit |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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CHRNB1 |
SynonymsGene synonyms aliases
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ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS |
ChromosomeChromosome number
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17 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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17p13.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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The muscle acetylcholine receptor is composed of five subunits: two alpha subunits and one beta, one gamma, and one delta subunit. This gene encodes the beta subunit of the acetylcholine receptor. The acetylcholine receptor changes conformation upon acety |
SNPsSNP information provided by dbSNP.
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SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs75019736 |
G>A |
Conflicting-interpretations-of-pathogenicity, uncertain-significance |
Synonymous variant, coding sequence variant |
rs137852810 |
G>A |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs137852811 |
C>A |
Pathogenic |
Coding sequence variant, missense variant |
rs199875082 |
C>A,T |
Uncertain-significance, pathogenic |
Missense variant, coding sequence variant |
rs201033437 |
C>G,T |
Pathogenic, uncertain-significance |
Synonymous variant, stop gained, coding sequence variant |
rs766823872 |
G>A |
Pathogenic |
Coding sequence variant, stop gained |
rs781689096 |
CTC>- |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
rs886041490 |
A>- |
Pathogenic |
Coding sequence variant, frameshift variant |
rs1131691957 |
GATTC>ACG |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1555552004 |
TC>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1597749210 |
G>A |
Likely-pathogenic |
Splice acceptor variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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UniProt ID |
P11230 |
Protein name |
Acetylcholine receptor subunit beta |
Protein function |
After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane. |
Family and domains |
Pfam
Accession |
ID |
Position in sequence |
Description |
Type |
PF02931 |
Neur_chan_LBD |
27 → 245 |
Neurotransmitter-gated ion-channel ligand binding domain |
Family |
PF02932 |
Neur_chan_memb |
252 → 487 |
Neurotransmitter-gated ion-channel transmembrane region |
Family |
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Sequence |
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Sequence length |
501 |
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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Myasthenic syndrome |
Congenital Myasthenic Syndromes, Postsynaptic, Congenital Myasthenic Syndromes, Presynaptic, Postsynaptic congenital myasthenic syndromes, Myasthenic Syndromes, Congenital, Myasthenic Syndromes, Congenital, Slow Channel, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL |
rs606231128, rs606231129, rs606231130, rs606231131, rs606231132, rs118203994, rs118203995, rs863223277, rs606231133, rs121908547, rs121908553, rs121908557, rs104893733, rs104893734, rs121908922, rs769982050, rs759911990, rs121908923, rs121908924, rs1384843815, rs104893735, rs104894299, rs104894300, rs786200904, rs104894301, rs786200905, rs104894294, rs121909254, rs121909255, rs879255561, rs121912821, rs75466054, rs121912822, rs199476396, rs121909510, rs121909511, rs121909514, rs121909512, rs121909513, rs879255562, rs879253722, rs879253723, rs28999110, rs886037628, rs753828284, rs121909515, rs121909516, rs121909517, rs879255563, rs121909502, rs121909503, rs121909504, rs879255564, rs121909505, rs121909508, rs137852810, rs137852811, rs137852798, rs137852800, rs137852801, rs137852802, rs137852804, rs137852805, rs137852806, rs137852807, rs137852808, rs2105350984, rs374391312, rs201322234, rs1671535986, rs1574066341, rs1574058076, rs1574066599, rs387906803, rs387907243, rs376039938, rs397515321, rs387907244, rs387907245, rs377767449, rs193919341, rs398122830, rs397515450, rs587777298, rs587777299, rs587777781, rs730882050, rs730882123, rs730882051, rs786204773, rs786205885, rs794727884, rs761899995, rs797045040, rs797045528, rs200783529, rs551423795, rs756877019, rs864309662, rs864309663, rs756623659, rs773526895, rs763258280, rs762368691, rs1555794286, rs886037842, rs147656110, rs886039767, rs886039768, rs770045897, rs763281993, rs755236236, rs886043239, rs764497513, rs1057517666, rs370019023, rs769114543, rs922548333, rs139574075, rs767507908, rs759226183, rs1057523690, rs55868108, rs755303686, rs1085307792, rs775583136, rs376808313, rs1131691986, rs776927709, rs1279554995, rs1553850100, rs1156634884, rs1553390600, rs1349476281, rs1555546465, rs199875082, rs200761047, rs1553360075, rs971863968, rs369251527, rs372760913, rs1479498379, rs1555547003, rs1423995073, rs1555546315, rs1555546765, rs201033437, rs1430654625, rs1554943789, rs1316112168, rs781689096, rs1553354962, rs753545038, rs1011196447, rs1553389102, rs185829251, rs28929768, rs1555546096, rs932032926, rs1553846331, rs756015202, rs1555142142, rs1436090495, rs1553352792, rs145356495, rs770987150, rs768892432, rs1557700705, rs1172015222, rs1558749457, rs1361739547, rs775517492, rs1558773839, rs1559510978, rs771879602, rs777102590, rs1567635954, rs1407243713, rs1567638401, rs756675414, rs781908532, rs1306593300, rs1559519107, rs199470447, rs1557721600, rs1558762013, rs746220436, rs1565527239, rs1565527137, rs1565527140, rs1567636493, rs1558761046, rs143766249, rs1447564693, rs757060689, rs1309292778, rs1575460231, rs1570193864, rs1570195582, rs1239736447, rs779488471, rs201947904, rs1597612665, rs1597613302, rs781774131, rs760022829, rs1597619440, rs1597621353, rs1187421976, rs977512223, rs1239393228, rs762875734, rs148092524, rs1269227357, rs1208462125, rs1597622118, rs1597749210, rs1570190059, rs1574007436, rs781974501, rs748639083, rs1597613479, rs1597621396, rs1570242061, rs149020371, rs1595903667, rs1597618787, rs1600807788, rs1579484850, rs1577153029, rs779816027, rs1598406692, rs1577153124, rs778172294, rs1590576560, rs753652169, rs1595902947, rs1369980189, rs762345055, rs1675812434, rs375268742, rs1671813157, rs759488854, rs761584017, rs1969834618, rs1969839736, rs1255916068, rs1597618854, rs1969973509, rs1908994498, rs1320610655, rs373710822 |
616314, 8872460, 8651643, 27391121, 20562457, 616314, 27375219 |
Developmental delay |
Gross motor development delay |
rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074 |
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Myopathy |
Myopathy |
rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166, rs193922856, rs281865489, rs397514675, rs397514676, rs397514677, rs367543058, rs118192117, rs193922837, rs118192129, rs118192143, rs118192153, rs118192133, rs118192156, rs118192149, rs118192148, rs118192183, rs118192147, rs118192123, rs118192127, rs118192142, rs118192144, rs118192178, rs118192151, rs118192150, rs118192184, rs118192154, rs118192134, rs118192155, rs193922893, rs118192132, rs118192146, rs193922867, rs193922884, rs587777528, rs527236030, rs587777672, rs587777673, rs587777674, rs587777675, rs587783343, rs2754158, rs786204796, rs748277951, rs797046047, rs797046064, rs797046060, rs797045479, rs797045931, rs797045932, rs797045934, rs797045935, rs797045477, rs797045478, rs1057518851, rs1057518855, rs1057518773, rs1057518866, rs1555322610, rs1555806119, rs761483896, rs144071404, rs1198364572, rs1568614042, rs978984063, rs1568604308, rs1332371891, rs1601842249, rs777176261, rs1249621033, rs1278804520, rs1568613962, rs1568510406, rs1597512576, rs193922887, rs371455345, rs1603452200, rs1599634685, rs1575065895, rs1575201712, rs139715157, rs1974129338 |
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Hypotonia |
Neonatal Hypotonia |
rs141138948, rs397517172, rs869312824, rs1583169151 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Facial paralysis |
Facial paralysis |
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High palate |
Byzanthine arch palate |
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Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency |
MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY |
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616314 |
Myasthenic syndrome, congenital, with facial dysmorphism, associated with acetylcholine receptor deficiency |
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency |
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Ptosis |
Blepharoptosis, Ptosis |
rs139920573 |
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Respiratory failure |
Respiratory Failure |
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