ENSG00000145864


Homo sapiens

Features
Gene ID: ENSG00000145864
  
Biological name :GABRB2
  
Synonyms : GABRB2 / gamma-aminobutyric acid type A receptor beta2 subunit / P47870
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: -1
Band: q34
Gene start: 161288429
Gene end: 161549044
  
Corresponding Affymetrix probe sets: 1557122_s_at (Human Genome U133 Plus 2.0 Array)   207352_s_at (Human Genome U133 Plus 2.0 Array)   242344_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000429320
Ensembl peptide - ENSP00000480066
Ensembl peptide - ENSP00000430532
Ensembl peptide - ENSP00000429750
Ensembl peptide - ENSP00000274546
Ensembl peptide - ENSP00000274547
Ensembl peptide - ENSP00000377531
NCBI entrez gene - 2561     See in Manteia.
OMIM - 600232
RefSeq - NM_000813
RefSeq - NM_021911
RefSeq Peptide - NP_000804
RefSeq Peptide - NP_068711
swissprot - P47870
swissprot - B7Z279
swissprot - E7EV50
Ensembl - ENSG00000145864
  
Related genetic diseases (OMIM): 617829 - Epileptic encephalopathy, infantile or early childhood, 2, 617829
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
 gabrb2ENSDARG00000079586Danio rerio
 GABRB2 (1 of many)ENSDARG00000100032Danio rerio
 GABRB2ENSGALG00000001690Gallus gallus
 Gabrb2ENSMUSG00000007653Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
GABRB1 / P18505 / gamma-aminobutyric acid type A receptor beta1 subunitENSG0000016328873
GABRB3 / P28472 / gamma-aminobutyric acid type A receptor beta3 subunitENSG0000016620672
GABRQ / Q9UN88 / gamma-aminobutyric acid type A receptor theta subunitENSG0000026808939
GABRR1 / P24046 / gamma-aminobutyric acid type A receptor rho1 subunitENSG0000014627635
A8MPY1 / GABRR3 / gamma-aminobutyric acid type A receptor rho3 subunit (gene/pseudogene)ENSG0000018318533
GABRP / O00591 / gamma-aminobutyric acid type A receptor pi subunitENSG0000009475533
GABRD / O14764 / gamma-aminobutyric acid type A receptor delta subunitENSG0000018773033
GLRA2 / P23416 / glycine receptor alpha 2ENSG0000010195832
GLRA3 / O75311 / glycine receptor alpha 3ENSG0000014545132
GLRA1 / P23415 / glycine receptor alpha 1ENSG0000014588832
GABRR2 / P28476 / gamma-aminobutyric acid type A receptor rho2 subunitENSG0000011188632
GLRA4 / Q5JXX5 / glycine receptor alpha 4ENSG0000018882830
GLRB / P48167 / glycine receptor betaENSG0000010973829


Protein motifs (from Interpro)
Interpro ID Name
 IPR002289  Gamma-aminobutyric-acid A receptor, beta 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:0006811 ion transport IEA
 biological_processGO:0006821 chloride transport IEA
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007214 gamma-aminobutyric acid signaling pathway TAS
 biological_processGO:0007268 chemical synaptic transmission TAS
 biological_processGO:0007605 sensory perception of sound IEA
 biological_processGO:0034220 ion transmembrane transport IEA
 biological_processGO:0043523 regulation of neuron apoptotic process IEA
 biological_processGO:0043524 negative regulation of neuron apoptotic process IEA
 biological_processGO:0048666 neuron development IEA
 biological_processGO:0051932 synaptic transmission, GABAergic ISS
 biological_processGO:0060119 inner ear receptor cell development IEA
 biological_processGO:0060384 innervation IEA
 biological_processGO:0071420 cellular response to histamine ISS
 biological_processGO:0090102 cochlea development IEA
 biological_processGO:1901215 negative regulation of neuron death IEA
 biological_processGO:1902476 chloride transmembrane transport ISS
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0030659 cytoplasmic vesicle membrane IEA
 cellular_componentGO:0031410 cytoplasmic vesicle IEA
 cellular_componentGO:0034707 chloride channel complex IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 cellular_componentGO:1902710 GABA receptor complex IEA
 cellular_componentGO:1902711 GABA-A receptor complex ISS
 molecular_functionGO:0004888 transmembrane signaling receptor activity IEA
 molecular_functionGO:0004890 GABA-A receptor activity ISS
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005230 extracellular ligand-gated ion channel activity IEA
 molecular_functionGO:0005237 inhibitory extracellular ligand-gated ion channel activity IEA
 molecular_functionGO:0005254 chloride channel activity ISS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0016917 GABA receptor activity IEA


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
 ENSG00000166206 GABRB3 / P28472 / gamma-aminobutyric acid type A receptor beta3 subunit  / complex
 ENSG00000145864 GABRB2 / P47870 / gamma-aminobutyric acid type A receptor beta2 subunit  / complex
 ENSG00000163288 GABRB1 / P18505 / gamma-aminobutyric acid type A receptor beta1 subunit  / complex
 ENSG00000182256 GABRG3 / Q99928 / gamma-aminobutyric acid type A receptor gamma3 subunit  / complex
 ENSG00000156642 NPTN / Q9Y639 / neuroplastin  / complex / reaction
 ENSG00000113327 GABRG2 / P18507 / gamma-aminobutyric acid type A receptor gamma2 subunit  / complex
 ENSG00000268089 GABRQ / Q9UN88 / gamma-aminobutyric acid type A receptor theta subunit  / complex






 

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