Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1140
Gene name Gene Name - the full gene name approved by the HGNC.
Cholinergic receptor nicotinic beta 1 subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHRNB1
Synonyms (NCBI Gene) Gene synonyms aliases
ACHRB, CHRNB, CMS1D, CMS2A, CMS2C, SCCMS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CMS2A, CMS2C
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001941 Process Postsynaptic membrane organization IMP 8651643
GO:0003009 Process Skeletal muscle contraction IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005887 Component Integral component of plasma membrane IBA 21873635
GO:0005887 Component Integral component of plasma membrane NAS 8872460
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
100710 1961 ENSG00000170175
Protein
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name 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
View all (237 more)
616314, 8872460, 8651643, 27391121, 20562457, 27375219
Developmental delay Gross motor development delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Myopathy Myopathy rs137854521, rs386834236, rs121908557, rs121909092, rs111033570, rs104894299, rs104894294, rs121909273, rs121909274, rs121909275, rs199474699, rs199476140, rs118192165, rs118192169, rs118192166
View all (81 more)
Hypotonia Neonatal Hypotonia rs141138948, rs397517172, rs869312824, rs1583169151
Unknown
Disease term Disease name Evidence References Source
Ptosis Blepharoptosis, Ptosis ClinVar
Myasthenic Syndrome congenital myasthenic syndrome 2A, congenital myasthenic syndrome 2C, congenital myasthenic syndrome 1A, postsynaptic congenital myasthenic syndrome GenCC
Associations from Text Mining
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