Gene Gene information from NCBI Gene database.
Entrez ID 1141
Gene name Cholinergic receptor nicotinic beta 2 subunit
Gene symbol CHRNB2
Synonyms (NCBI Gene)
EFNL3nAChRB2
Chromosome 1
Chromosome location 1q21.3
Summary Neuronal acetylcholine receptors are homo- or heteropentameric complexes composed of homologous alpha and beta subunits. They belong to a superfamily of ligand-gated ion channels which allow the flow of sodium and potassium across the plasma membrane in r
SNPs SNP information provided by dbSNP.
13
SNP ID Visualize variation Clinical significance Consequence
rs2072661 G>A Drug-response Non coding transcript variant, 3 prime UTR variant
rs74315291 G>A,C,T Pathogenic Missense variant, non coding transcript variant, coding sequence variant
rs112585933 G>A Benign-likely-benign, conflicting-interpretations-of-pathogenicity Non coding transcript variant, missense variant, coding sequence variant
rs144813907 C>G,T Conflicting-interpretations-of-pathogenicity, benign Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs190374968 G>A,C,T Benign, conflicting-interpretations-of-pathogenicity Intron variant
miRNA miRNA information provided by mirtarbase database.
174
miRTarBase ID miRNA Experiments Reference
MIRT496823 hsa-miR-6873-5p PAR-CLIP 22291592
MIRT496822 hsa-miR-4292 PAR-CLIP 22291592
MIRT496821 hsa-miR-6791-5p PAR-CLIP 22291592
MIRT496820 hsa-miR-3192-5p PAR-CLIP 22291592
MIRT496819 hsa-miR-1291 PAR-CLIP 22291592
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
83
GO ID Ontology Definition Evidence Reference
GO:0001666 Process Response to hypoxia IDA 12189247
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005230 Function Extracellular ligand-gated monoatomic ion channel activity IEA
GO:0005515 Function Protein binding IPI 8663494, 27344019, 29720657, 33961781
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
118507 1962 ENSG00000160716
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P17787
Protein name Neuronal acetylcholine receptor subunit beta-2
Protein function Component of neuronal acetylcholine receptors (nAChRs) that function as pentameric, ligand-gated cation channels with high calcium permeability among other activities. nAChRs are excitatory neurotrasnmitter receptors formed by a collection of nA
PDB 2K58 , 2K59 , 2KSR , 2LM2 , 5KXI , 6CNJ , 6CNK , 6UR8 , 6USF , 8SSZ , 8ST0 , 8ST1 , 8ST2 , 8ST3 , 8ST4
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02931 Neur_chan_LBD 29 234 Neurotransmitter-gated ion-channel ligand binding domain Family
PF02932 Neur_chan_memb 241 478 Neurotransmitter-gated ion-channel transmembrane region Family
Sequence
Sequence length 502
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Neuroactive ligand-receptor interaction
Cholinergic synapse
Nicotine addiction
Chemical carcinogenesis - receptor activation
  Highly sodium permeable postsynaptic acetylcholine nicotinic receptors
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
567
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Autosomal dominant nocturnal frontal lobe epilepsy Pathogenic; Likely pathogenic rs74315291, rs281865070 RCV001216785
RCV003097704
RCV001382226
Autosomal dominant nocturnal frontal lobe epilepsy 1 Pathogenic rs74315291 RCV003493411
Autosomal dominant nocturnal frontal lobe epilepsy 3 Likely pathogenic; Pathogenic rs1696167453, rs2526365241, rs74315291 RCV001332574
RCV003985001
RCV000019047
RCV000019048
RCV002286498
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Likely benign rs138398618 RCV005917550
CHRNB2-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs55857552, rs144813907, rs79137415, rs141735618, rs112585933, rs2526384319, rs768297928, rs767533378, rs141511378, rs200196583, rs199919525 RCV003915243
RCV003915244
RCV003952700
RCV003416096
RCV003967467
RCV003408399
RCV003957180
RCV004754445
RCV004754537
RCV003908248
RCV004754714
Deeply set eye Conflicting classifications of pathogenicity rs199885651 RCV000416529
Focal clonic seizure Uncertain significance rs1466236236 RCV001090182
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Stimulate 18830724
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Associate 11952766, 17385675, 17900292, 22036597
Cholangitis Sclerosing Associate 38302916
Cognition Disorders Associate 22036597
Colitis Ulcerative Associate 38302916
Epilepsy Associate 21204805
Epileptic Syndromes Associate 17385675
Intellectual Disability Associate 22036597
Schizophrenia Associate 22036597