ENSG00000101204


Homo sapiens

Features
Gene ID: ENSG00000101204
  
Biological name :CHRNA4
  
Synonyms : cholinergic receptor nicotinic alpha 4 subunit / CHRNA4 / P43681
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 20
Strand: -1
Band: q13.33
Gene start: 63343223
Gene end: 63378401
  
Corresponding Affymetrix probe sets: 206735_at (Human Genome U133 Plus 2.0 Array)   206736_x_at (Human Genome U133 Plus 2.0 Array)   216886_at (Human Genome U133 Plus 2.0 Array)   216900_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000486914
Ensembl peptide - ENSP00000359285
Ensembl peptide - ENSP00000429513
Ensembl peptide - ENSP00000483388
NCBI entrez gene - 1137     See in Manteia.
OMIM - 118504
RefSeq - XM_017027624
RefSeq - NM_000744
RefSeq - NM_001256573
RefSeq - XM_011528524
RefSeq Peptide - NP_000735
RefSeq Peptide - NP_001243502
swissprot - H0YBH1
swissprot - P43681
swissprot - A0A0D9SFU6
Ensembl - ENSG00000101204
  
Related genetic diseases (OMIM): 188890 - {Nicotine addiction, susceptibility to}, 188890
  600513 - Epilepsy, nocturnal frontal lobe, 1, 600513
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
 chrna4aENSDARG00000087071Danio rerio
 chrna4bENSDARG00000070724Danio rerio
 CHRNA4ENSGALG00000005801Gallus gallus
 Chrna4ENSMUSG00000027577Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
CHRNA2 / Q15822 / cholinergic receptor nicotinic alpha 2 subunitENSG0000012090355
CHRNA3 / P32297 / cholinergic receptor nicotinic alpha 3 subunitENSG0000008064446
CHRNA6 / Q15825 / cholinergic receptor nicotinic alpha 6 subunitENSG0000014743443
CHRNB2 / P17787 / cholinergic receptor nicotinic beta 2 subunitENSG0000016071639
CHRNB3 / Q05901 / cholinergic receptor nicotinic beta 3 subunitENSG0000014743239
CHRNA5 / P30532 / cholinergic receptor nicotinic alpha 5 subunitENSG0000016968438
CHRNB4 / P30926 / cholinergic receptor nicotinic beta 4 subunitENSG0000011797138
CHRNA1 / P02708 / cholinergic receptor nicotinic alpha 1 subunitENSG0000013843536


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:0001508 action potential ISS
 biological_processGO:0001666 response to hypoxia IDA
 biological_processGO:0006281 DNA repair IMP
 biological_processGO:0006811 ion transport NAS
 biological_processGO:0006816 calcium ion transport ISS
 biological_processGO:0006979 response to oxidative stress IMP
 biological_processGO:0007165 signal transduction IDA
 biological_processGO:0007268 chemical synaptic transmission NAS
 biological_processGO:0007271 synaptic transmission, cholinergic IBA
 biological_processGO:0007274 neuromuscular synaptic transmission IBA
 biological_processGO:0007585 respiratory gaseous exchange IEA
 biological_processGO:0007626 locomotory behavior IEA
 biological_processGO:0014059 regulation of dopamine secretion ISS
 biological_processGO:0019233 sensory perception of pain ISS
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0035094 response to nicotine IDA
 biological_processGO:0035095 behavioral response to nicotine IMP
 biological_processGO:0035640 exploration behavior IEA
 biological_processGO:0042113 B cell activation ISS
 biological_processGO:0042391 regulation of membrane potential ISS
 biological_processGO:0050877 nervous system process IMP
 biological_processGO:0050890 cognition IMP
 biological_processGO:0051899 membrane depolarization ISS
 biological_processGO:0060078 regulation of postsynaptic membrane potential IEA
 biological_processGO:0060079 excitatory postsynaptic potential IEA
 biological_processGO:0060080 inhibitory postsynaptic potential ISS
 biological_processGO:0095500 acetylcholine receptor signaling pathway IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005892 acetylcholine-gated channel complex IDA
 cellular_componentGO:0009897 external side of plasma membrane ISS
 cellular_componentGO:0016020 membrane ISS
 cellular_componentGO:0016021 integral component of membrane NAS
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0043025 neuronal cell body ISS
 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:0015276 ligand-gated ion channel activity TAS
 molecular_functionGO:0015464 acetylcholine receptor activity IDA
 molecular_functionGO:0022848 acetylcholine-gated cation-selective channel activity TAS
 molecular_functionGO:0042166 acetylcholine binding IC


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:0001249 Mental retardation 
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 HP:0003829 Incomplete penetrance 
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 HP:0007359 Partial seizures "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators]
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 HP:0011463 Childhood onset "Onset of disease at the age of between 1 and 5 years." [DDD:hfirth]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000147432 CHRNB3 / Q05901 / cholinergic receptor nicotinic beta 3 subunit  / complex
 ENSG00000147434 CHRNA6 / Q15825 / cholinergic receptor nicotinic alpha 6 subunit  / complex
 ENSG00000101204 CHRNA4 / P43681 / cholinergic receptor nicotinic alpha 4 subunit  / complex
 ENSG00000160716 CHRNB2 / P17787 / cholinergic receptor nicotinic beta 2 subunit  / complex






 

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