ENSG00000120903


Homo sapiens

Features
Gene ID: ENSG00000120903
  
Biological name :CHRNA2
  
Synonyms : cholinergic receptor nicotinic alpha 2 subunit / CHRNA2 / Q15822
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: p21.2
Gene start: 27459761
Gene end: 27479883
  
Corresponding Affymetrix probe sets: 207868_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000240132
Ensembl peptide - ENSP00000490690
Ensembl peptide - ENSP00000430994
Ensembl peptide - ENSP00000430856
Ensembl peptide - ENSP00000430612
Ensembl peptide - ENSP00000430422
Ensembl peptide - ENSP00000429953
Ensembl peptide - ENSP00000429616
Ensembl peptide - ENSP00000385026
NCBI entrez gene - 1135     See in Manteia.
OMIM - 118502
RefSeq - XM_017013004
RefSeq - NM_000742
RefSeq - NM_001282455
RefSeq - NM_001347706
RefSeq - XM_005273397
RefSeq - XM_006716282
RefSeq - XM_011544388
RefSeq - XM_011544389
RefSeq - XM_017013003
RefSeq Peptide - NP_001269384
RefSeq Peptide - NP_001334635
RefSeq Peptide - NP_000733
swissprot - E5RGP6
swissprot - A0A1B0GVX5
swissprot - A0A0X1KG79
swissprot - E5RJ54
swissprot - E5RK67
swissprot - Q15822
swissprot - E5RHQ4
swissprot - E5RGT4
Ensembl - ENSG00000120903
  
Related genetic diseases (OMIM): 610353 - Epilepsy, nocturnal frontal lobe, type 4, 610353
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
 chrna2aENSDARG00000006602Danio rerio
 chrna2bENSDARG00000057025Danio rerio
 CHRNA2ENSGALG00000016565Gallus gallus
 Chrna2ENSMUSG00000022041Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CHRNA4 / P43681 / cholinergic receptor nicotinic alpha 4 subunitENSG0000010120465
CHRNA3 / P32297 / cholinergic receptor nicotinic alpha 3 subunitENSG0000008064453
CHRNA6 / Q15825 / cholinergic receptor nicotinic alpha 6 subunitENSG0000014743448
CHRNB3 / Q05901 / cholinergic receptor nicotinic beta 3 subunitENSG0000014743246
CHRNA5 / P30532 / cholinergic receptor nicotinic alpha 5 subunitENSG0000016968446
CHRNB2 / P17787 / cholinergic receptor nicotinic beta 2 subunitENSG0000016071645
CHRNB4 / P30926 / cholinergic receptor nicotinic beta 4 subunitENSG0000011797143
CHRNA1 / P02708 / cholinergic receptor nicotinic alpha 1 subunitENSG0000013843541


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
 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:0006811 ion transport IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007271 synaptic transmission, cholinergic IBA
 biological_processGO:0007274 neuromuscular synaptic transmission IBA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0035094 response to nicotine IBA
 biological_processGO:0051291 protein heterooligomerization IEA
 biological_processGO:0060078 regulation of postsynaptic membrane potential IEA
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005892 acetylcholine-gated channel complex IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0071944 cell periphery 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: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 IDA
 molecular_functionGO:0042166 acetylcholine binding IBA


Pathways (from Reactome)
Pathway description
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:0000708 Behavioural/Psychiatric Abnormality 
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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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 HP:0001425 Heterogeneous 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000120903 CHRNA2 / Q15822 / cholinergic receptor nicotinic alpha 2 subunit  / complex
 ENSG00000147432 CHRNB3 / Q05901 / cholinergic receptor nicotinic beta 3 subunit  / complex






 

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