ENSG00000151834


Homo sapiens

Features
Gene ID: ENSG00000151834
  
Biological name :GABRA2
  
Synonyms : GABRA2 / gamma-aminobutyric acid type A receptor alpha2 subunit / P47869
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: p12
Gene start: 46248427
Gene end: 46475230
  
Corresponding Affymetrix probe sets: 1554308_s_at (Human Genome U133 Plus 2.0 Array)   207014_at (Human Genome U133 Plus 2.0 Array)   216039_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000422642
Ensembl peptide - ENSP00000422805
Ensembl peptide - ENSP00000486333
Ensembl peptide - ENSP00000444409
Ensembl peptide - ENSP00000427603
Ensembl peptide - ENSP00000425526
Ensembl peptide - ENSP00000425240
Ensembl peptide - ENSP00000424362
Ensembl peptide - ENSP00000424093
Ensembl peptide - ENSP00000423840
Ensembl peptide - ENSP00000348897
Ensembl peptide - ENSP00000371033
Ensembl peptide - ENSP00000421300
Ensembl peptide - ENSP00000421639
Ensembl peptide - ENSP00000421828
NCBI entrez gene - 2555     See in Manteia.
OMIM - 137140
RefSeq - XM_017007983
RefSeq - NM_000807
RefSeq - NM_001114175
RefSeq - NM_001286827
RefSeq - XM_005248080
RefSeq - XM_011513675
RefSeq - XM_011513676
RefSeq - XM_017007982
RefSeq Peptide - NP_001273756
RefSeq Peptide - NP_001317619
RefSeq Peptide - NP_000798
RefSeq Peptide - NP_001107647
swissprot - D6RCS5
swissprot - D6RBL7
swissprot - D6RBK9
swissprot - D6RB77
swissprot - D6RAA9
swissprot - A0A0A0MTM5
swissprot - G5E9Z6
swissprot - A0A024R9X6
swissprot - H0Y9V8
swissprot - P47869
swissprot - E9PBQ7
Ensembl - ENSG00000151834
  
Related genetic diseases (OMIM): 103780 - {Alcohol dependence, susceptibility to}, 103780
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
 GABRA2ENSDARG00000113737Danio rerio
 gabra2aENSDARG00000091459Danio rerio
 GABRA2ENSGALG00000014206Gallus gallus
 Gabra2ENSMUSG00000000560Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GABRA1 / P14867 / gamma-aminobutyric acid type A receptor alpha1 subunitENSG0000002235568
GABRA3 / P34903 / gamma-aminobutyric acid type A receptor alpha3 subunitENSG0000001167763
GABRA5 / P31644 / gamma-aminobutyric acid type A receptor alpha5 subunitENSG0000018629763
GABRA4 / P48169 / gamma-aminobutyric acid type A receptor alpha4 subunitENSG0000010915851
GABRA6 / Q16445 / gamma-aminobutyric acid type A receptor alpha6 subunitENSG0000014586349
GABRG1 / Q8N1C3 / gamma-aminobutyric acid type A receptor gamma1 subunitENSG0000016328538
GABRG2 / P18507 / gamma-aminobutyric acid type A receptor gamma2 subunitENSG0000011332737
GABRG3 / Q99928 / gamma-aminobutyric acid type A receptor gamma3 subunitENSG0000018225636
GABRE / P78334 / gamma-aminobutyric acid type A receptor epsilon subunitENSG0000010228732


Protein motifs (from Interpro)
Interpro ID Name
 IPR001390  Gamma-aminobutyric-acid A receptor, alpha subunit
 IPR005432  Gamma-aminobutyric-acid A receptor, alpha 2 subunit
 IPR006028  Gamma-aminobutyric acid A receptor/Glycine receptor alpha
 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:0001505 regulation of neurotransmitter levels IMP
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006821 chloride transport IEA
 biological_processGO:0006836 neurotransmitter transport IMP
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007214 gamma-aminobutyric acid signaling pathway IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:1902476 chloride transmembrane transport IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030285 integral component of synaptic vesicle membrane IDA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0034707 chloride channel complex IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0060077 inhibitory synapse IEA
 cellular_componentGO:0098794 postsynapse IEA
 cellular_componentGO:1902711 GABA-A receptor complex IDA
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0004890 GABA-A receptor activity IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005230 extracellular ligand-gated ion channel activity IEA
 molecular_functionGO:0005254 chloride channel activity IEA
 molecular_functionGO:0008503 benzodiazepine receptor activity IMP
 molecular_functionGO:0022851 GABA-gated chloride ion channel activity IDA


Pathways (from Reactome)
Pathway description
Neurotransmitter receptors and postsynaptic signal transmission
GABA A receptor activation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
No match
  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000131089 O43307 / ARHGEF9 / Cdc42 guanine nucleotide exchange factor 9  / complex






 

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