Gene Gene information from NCBI Gene database.
Entrez ID 1140
Gene name Cholinergic receptor nicotinic beta 1 subunit
Gene symbol CHRNB1
Synonyms (NCBI Gene)
ACHRBCHRNBCMS1DCMS2ACMS2CSCCMS
Chromosome 17
Chromosome location 17p13.1
Summary 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
SNPs SNP information provided by dbSNP.
11
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
miRNA miRNA information provided by mirtarbase database.
411
miRTarBase ID miRNA Experiments Reference
MIRT004951 hsa-miR-98-5p qRT-PCR 17942906
MIRT695097 hsa-miR-590-3p HITS-CLIP 23313552
MIRT695096 hsa-miR-1228-3p HITS-CLIP 23313552
MIRT695095 hsa-miR-6765-3p HITS-CLIP 23313552
MIRT695094 hsa-miR-4735-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
55
GO ID Ontology Definition Evidence Reference
GO:0001941 Process Postsynaptic membrane organization IMP 8651643
GO:0003009 Process Skeletal muscle contraction IBA
GO:0003009 Process Skeletal muscle contraction IEA
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0005216 Function Monoatomic ion channel activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
100710 1961 ENSG00000170175
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence
Sequence length 501
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Neuroactive ligand-receptor interaction  
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
459
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital myasthenic syndrome 2A Pathogenic; Likely pathogenic rs2150839428, rs780391043, rs2150842362, rs1908992563, rs2507858296, rs2507872027, rs2507872174, rs776540918, rs2507858850, rs2507872015, rs137852810, rs137852811, rs2069945390, rs199875082, rs781689096
View all (4 more)
RCV001380636
RCV001380974
RCV002046820
RCV002001892
RCV003053335
RCV002857686
RCV003030264
RCV003444407
RCV003589697
RCV003991144
RCV000020040
RCV000020041
RCV003588563
RCV000559793
RCV001089209
RCV002535635
RCV000818684
RCV001066761
RCV001195894
Congenital myasthenic syndrome 2C Pathogenic rs137852810, rs2069945390 RCV004798739
RCV000020042
See cases Pathogenic rs137852811 RCV004797765
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CHRNB1-related disorder Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign rs1173532574, rs777107114, rs1435006733, rs2069939028, rs199903026, rs117168441, rs77592498, rs145242880, rs190598236, rs372041531 RCV003405756
RCV003418851
RCV003893370
RCV003979658
RCV003910241
RCV003969924
RCV003907913
RCV003975292
RCV003978188
RCV003953594
Congenital myasthenic syndrome 4C Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance rs76927517, rs2302765, rs76001008, rs17856697, rs75019736, rs79209506, rs147607553, rs79747991, rs201915086, rs886053399, rs886053402, rs886053404, rs202144045, rs182995220, rs550926134
View all (46 more)
RCV000276935
RCV000397260
RCV000287134
RCV000329220
RCV000323370
RCV001127872
RCV001124773
RCV000332994
RCV000284756
RCV000359223
RCV000365724
RCV000307522
RCV000362114
RCV000374589
RCV000325565
RCV000363887
RCV000278953
RCV000320224
RCV000340773
RCV000397186
RCV000380420
RCV000397942
RCV000274455
RCV000280304
RCV000380560
RCV000285759
RCV000376909
RCV000336419
RCV000342141
RCV000301714
RCV000399753
RCV000368962
RCV000316676
RCV001122103
RCV000778516
RCV000626247
RCV001125598
RCV001123512
RCV001124596
RCV001122100
RCV001124874
RCV001124875
RCV001123511
RCV001124594
RCV001124597
RCV001122011
RCV001125764
RCV001122101
RCV001122102
RCV001124876
RCV001124877
RCV001125850
RCV001125851
RCV001125852
RCV001125853
RCV001125854
RCV001127963
RCV001127964
RCV001127965
RCV001123513
RCV001124595
Congenital Myasthenic Syndrome, Dominant/Recessive Conflicting classifications of pathogenicity rs770468832 RCV000271639
Malignant lymphoma, large B-cell, diffuse Benign rs2302765 RCV005888019
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 31775875
Arthrogryposis Associate 33060286
Central Nervous System Vascular Malformations Associate 33060286
Fetal akinesia syndrome X linked Associate 18179903
Multiple pterygium syndrome Associate 18179903
Myasthenia Gravis Associate 35074870
Myasthenic Syndrome Congenital Fast Channel Associate 32504635
Myasthenic Syndromes Congenital Associate 20562457, 27375219, 32504635, 32895905
Tobacco Use Disorder Associate 20584212