Gene table of CHRNB1 : cholinergic receptor nicotinic beta 1 subunit

Gene-disease associations table

Disease IDDisease nameSource of annotation with CHRNB1OMIM linkNumber of associated genesgenes
PS601462MYASTHENIC SYNDROME, CONGENITALClinVar, OMIM, HUMSAVAR link to OMIM 23LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2

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Annotation of the gene CHRNB1

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Neuroactive ligand-receptor interactionhsa040804.58
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
cation channel activityGO:00052614.04
acetylcholine receptor activityGO:00154646.3
molecular transducer activityGO:00600892.32
bindingGO:00054880.18
signal transducer activityGO:00048712.28
signaling receptor activityGO:00380232.49
ammonium ion bindingGO:00704055.81
ligand-gated ion channel activityGO:00152764.8
ion bindingGO:00431671.36
transmembrane transporter activityGO:00228572.82
channel activityGO:00152673.6
passive transmembrane transporter activityGO:00228033.6
extracellular ligand-gated ion channel activityGO:00052305.42
neurotransmitter receptor activityGO:00305945.5
excitatory extracellular ligand-gated ion channel activityGO:00052315.73
cation bindingGO:00431691.4
transporter activityGO:00052152.57
ion channel activityGO:00052163.71
cation transmembrane transporter activityGO:00083243.32
acetylcholine bindingGO:00421666.56
neurotransmitter bindingGO:00421656.34
substrate-specific transmembrane transporter activityGO:00228912.9
substrate-specific transporter activityGO:00228922.72
ion transmembrane transporter activityGO:00150753.04
transmembrane signaling receptor activityGO:00048882.57
acetylcholine-activated cation-selective channel activityGO:00048896.65
gated channel activityGO:00228363.96
ligand-gated channel activityGO:00228344.8
substrate-specific channel activityGO:00228383.67
transmembrane receptor activityGO:00996002.53
receptor activityGO:00048722.32