ENSG00000160716


Homo sapiens

Features
Gene ID: ENSG00000160716
  
Biological name :CHRNB2
  
Synonyms : cholinergic receptor nicotinic beta 2 subunit / CHRNB2 / P17787
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 1
Strand: 1
Band: q21.3
Gene start: 154567781
Gene end: 154580026
  
Corresponding Affymetrix probe sets: 206635_at (Human Genome U133 Plus 2.0 Array)   241389_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000357461
Ensembl peptide - ENSP00000490474
Ensembl peptide - ENSP00000490203
Ensembl peptide - ENSP00000489703
NCBI entrez gene - 1141     See in Manteia.
OMIM - 118507
RefSeq - XM_017000180
RefSeq - NM_000748
RefSeq Peptide - NP_000739
swissprot - A0A1B0GUQ6
swissprot - A0A1B0GVD7
swissprot - P17787
swissprot - Q5SXY3
swissprot - A0A1B0GTH5
Ensembl - ENSG00000160716
  
Related genetic diseases (OMIM): 605375 - Epilepsy, nocturnal frontal lobe, 3, 605375
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 chrnb2bENSDARG00000017790Danio rerio
 CHRNB2ENSGALG00000002707Gallus gallus
 Chrnb2ENSMUSG00000027950Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CHRNB4 / P30926 / cholinergic receptor nicotinic beta 4 subunitENSG0000011797163
CHRNA4 / P43681 / cholinergic receptor nicotinic alpha 4 subunitENSG0000010120449
CHRNA2 / Q15822 / cholinergic receptor nicotinic alpha 2 subunitENSG0000012090347
CHRNA3 / P32297 / cholinergic receptor nicotinic alpha 3 subunitENSG0000008064445
CHRNA6 / Q15825 / cholinergic receptor nicotinic alpha 6 subunitENSG0000014743444
CHRNA1 / P02708 / cholinergic receptor nicotinic alpha 1 subunitENSG0000013843538
CHRNB3 / Q05901 / cholinergic receptor nicotinic beta 3 subunitENSG0000014743237
CHRNA5 / P30532 / cholinergic receptor nicotinic alpha 5 subunitENSG0000016968436


Protein motifs (from Interpro)
Interpro ID Name
 IPR002394  Nicotinic acetylcholine receptor
 IPR006029  Neurotransmitter-gated ion-channel transmembrane domain
 IPR006201  Neurotransmitter-gated ion-channel
 IPR006202  Neurotransmitter-gated ion-channel ligand-binding domain
 IPR018000  Neurotransmitter-gated ion-channel, conserved site
 IPR032932  Neuronal acetylcholine receptor subunit beta-2
 IPR036719  Neurotransmitter-gated ion-channel transmembrane domain superfamily
 IPR036734  Neurotransmitter-gated ion-channel ligand-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001508 action potential IEA
 biological_processGO:0001661 conditioned taste aversion IEA
 biological_processGO:0001666 response to hypoxia IEA
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006939 smooth muscle contraction IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007271 synaptic transmission, cholinergic IEA
 biological_processGO:0007274 neuromuscular synaptic transmission IBA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0007612 learning IEA
 biological_processGO:0007613 memory IEA
 biological_processGO:0007626 locomotory behavior IEA
 biological_processGO:0008306 associative learning IEA
 biological_processGO:0008542 visual learning IEA
 biological_processGO:0014059 regulation of dopamine secretion IEA
 biological_processGO:0019233 sensory perception of pain IEA
 biological_processGO:0021562 vestibulocochlear nerve development IEA
 biological_processGO:0021631 optic nerve morphogenesis IEA
 biological_processGO:0021771 lateral geniculate nucleus development IEA
 biological_processGO:0021952 central nervous system projection neuron axonogenesis IEA
 biological_processGO:0021955 central nervous system neuron axonogenesis IEA
 biological_processGO:0030890 positive regulation of B cell proliferation IEA
 biological_processGO:0032225 regulation of synaptic transmission, dopaminergic IEA
 biological_processGO:0032226 positive regulation of synaptic transmission, dopaminergic IEA
 biological_processGO:0033603 positive regulation of dopamine secretion IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0035094 response to nicotine IEA
 biological_processGO:0035095 behavioral response to nicotine IEA
 biological_processGO:0035176 social behavior IEA
 biological_processGO:0042053 regulation of dopamine metabolic process IEA
 biological_processGO:0042113 B cell activation IEA
 biological_processGO:0042220 response to cocaine IEA
 biological_processGO:0042320 regulation of circadian sleep/wake cycle, REM sleep IEA
 biological_processGO:0042391 regulation of membrane potential IEA
 biological_processGO:0045188 regulation of circadian sleep/wake cycle, non-REM sleep IEA
 biological_processGO:0045471 response to ethanol IEA
 biological_processGO:0045759 negative regulation of action potential IEA
 biological_processGO:0048814 regulation of dendrite morphogenesis IEA
 biological_processGO:0050877 nervous system process IMP
 biological_processGO:0050890 cognition IMP
 biological_processGO:0051291 protein heterooligomerization IEA
 biological_processGO:0051899 membrane depolarization IEA
 biological_processGO:0051963 regulation of synapse assembly IEA
 biological_processGO:0060078 regulation of postsynaptic membrane potential IEA
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 biological_processGO:0060084 synaptic transmission involved in micturition IEA
 biological_processGO:0095500 acetylcholine receptor signaling pathway IEA
 biological_processGO:1905144 response to acetylcholine IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005892 acetylcholine-gated channel complex IEA
 cellular_componentGO:0009897 external side of plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0044853 plasma membrane raft IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005230 extracellular ligand-gated ion channel activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008144 drug binding IEA
 molecular_functionGO:0015276 ligand-gated ion channel activity TAS
 molecular_functionGO:0015464 acetylcholine receptor activity IDA
 molecular_functionGO:0022848 acetylcholine-gated cation-selective channel activity IEA
 molecular_functionGO:0042166 acetylcholine binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA


Pathways (from Reactome)
Pathway description
Highly sodium permeable acetylcholine nicotinic receptors
Highly calcium permeable postsynaptic nicotinic acetylcholine receptors
Highly calcium permeable nicotinic acetylcholine receptors


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000080644 CHRNA3 / P32297 / cholinergic receptor nicotinic alpha 3 subunit  / complex
 ENSG00000169684 CHRNA5 / P30532 / cholinergic receptor nicotinic alpha 5 subunit  / complex
 ENSG00000160716 CHRNB2 / P17787 / cholinergic receptor nicotinic beta 2 subunit  / complex
 ENSG00000101204 CHRNA4 / P43681 / cholinergic receptor nicotinic alpha 4 subunit  / complex






 

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