AutismKB 2.0

Annotation Details for GABRB2


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Basic Information Top
Gene Symbol:GABRB2 ( MGC119386,MGC119388,MGC119389 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, beta 2
Band: 5q34
Quick LinksEntrez ID:2561; OMIM: 600232; Uniprot ID:GBRB2_HUMAN; ENSEMBL ID: ENSG00000145864; HGNC ID: 4082
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IEA-cytosol-
GO:0005886TAS-plasma membrane-
GO:0005887ISS-integral component of plasma membrane-
GO:0030054IEA-cell junction-
GO:0030659IEA-cytoplasmic vesicle membrane-
GO:0034707IEA-chloride channel complex-
GO:0045211IEA-postsynaptic membrane-
GO:0070062IDA-extracellular exosome19056867
GO:1902711IBA-GABA-A receptor complex-
GO:1902711ISS-GABA-A receptor complex-
GO ID Evidence Qualifier GO_term References
GO:0004890IBAcontributes_toGABA-A receptor activity-
GO:0004890ISS-GABA-A receptor activity-
GO:0005237IEA-inhibitory extracellular ligand-gated ion channel activity-
GO:0005254ISS-chloride channel activity-
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport8264558
GO:0007214TAS-gamma-aminobutyric acid signaling pathway8264558
GO:0007268TAS-chemical synaptic transmission8264558
GO:0007605IEA-sensory perception of sound-
GO:0034220TAS-ion transmembrane transport-
GO:0043524IEA-negative regulation of neuron apoptotic process-
GO:0051932ISS-synaptic transmission, GABAergic-
GO:0060119IEA-inner ear receptor cell development-
GO:0060384IEA-innervation-
GO:0071420ISS-cellular response to histamine-
GO:0090102IEA-cochlea development-
GO:1902476ISS-chloride transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
TRAK2GABRB210883512034717 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
TRAK2GABRB212245212034717 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
No data
No data
Gene Symbol Poly Names Gene overview in SZGene
GABRB2hCV15947447, hCV15947481, hCV15947507, hCV15947517, hCV15959954, hCV15959955, hCV26311749, hCV3099131, hCV7512066, hCV917947, hCV917952, rs1002067, rs10042958, rs10043074, rs10052351, rs10060079, rs10060148, rs10066996, rs1159170, rs12187676, rs13169306, rs13178374, rs13187844, rs1363697, rs1373602, rs1422952, rs1422955, rs1444741, rs153294, rs153299, rs1644436, rs1644522, rs1677380, rs168697, rs17462847, rs1816071, rs1816072, rs187269, rs194072, rs2066949, rs2229944, rs2303055, rs252943, rs252944, rs252955, rs252959, rs252963, rs252969, rs252972, rs253000, rs253017, rs2546620, rs25466220, rs2617503, rs2617505, rs2910300, rs2962396, rs2962407, rs2962419, rs2964772, rs34104385, rs34691510, rs3482061, rs34820615, rs34941072, rs35351365, rs35595756, rs35858335, rs35894400, rs3816596, rs3901706, rs41298404, rs41298406, rs41298408, rs41298410, rs41298412, rs41298414, rs41298416, rs41298418, rs41298420, rs4289595, rs4530801, rs592403, rs6556547, rs679633, rs6882041, rs6891988, rs918528, rs967771 Gene overview in SZGene
Animal Model Top
  • MGI ID: MGI:95620
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-030131-8196'