AutismKB

Annotation Detail for GABRB3


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Basic Information Top
Gene Symbol:GABRB3 ( ECA5,MGC9051 )
Gene Full Name: gamma-aminobutyric acid (GABA) A receptor, beta 3
Band: 15q11.2-q12
Quick LinksEntrez ID:2562; OMIM: 137192; Uniprot ID:GBRB3_HUMAN; ENSEMBL ID: ENSG00000166206
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005886TAS-plasma membrane-
GO:0005887TAS-integral to plasma membrane1664410
GO:0030054IEA-cell junction-
GO:0034707IEA-chloride channel complex-
GO:0045202IEA-synapse-
GO:0045211IEA-postsynaptic membrane-
GO ID Evidence Qualifier GO_term References
GO:0004872IEA-receptor activity-
GO:0004890IEA-GABA-A receptor activity-
GO:0005216IEA-ion channel activity-
GO:0005230IEA-extracellular ligand-gated ion channel activity-
GO:0005254IEA-chloride channel activity-
GO ID Evidence Qualifier GO_term References
GO:0006810TAS-transport1664410
GO:0007165TAS-signal transduction1664410
GO:0007268TAS-synaptic transmission-
GO:0034220TAS-ion transmembrane transport-
GO:0055085TAS-transmembrane transport-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
AKAP5GABRB311487412595241 Affinity Capture-Western; Reconstituted Complex
AKAP5GABRB310883612595241 Affinity Capture-Western; Reconstituted Complex
PRKACAGABRB311155312595241 Reconstituted Complex
PRKACAGABRB310883612595241 Reconstituted Complex
PRKCAGABRB310883612595241 Reconstituted Complex
PRKCAGABRB311156412595241 Reconstituted Complex
UBCGABRB311316418467327 Affinity Capture-Western
UBCGABRB310883618467327 Affinity Capture-Western
No data
No data
Genomic Variants Top
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_72207 chr15:24398735-24407165 19812545 NimbleGen custom 42M oligo array CGH 1 0 1 NA 39 HapMap Individuals + NA15510 GABRB3
Variation_113895 chr15:24567346-24571664 20364138 Custom Agilent 24M oligonucleotide CGH array 1 0 1- 30 Asian Individuals (10 Koreans (KOR), 10 HapMap Chinese (CHB) and 10 HapMap Japanese (JPT) individuals) GABRB3
Variation_102060 chr15:24571716-24573221 19546169 ABI SOLiD Sequencing 0 1 1- 1 male Yoruban Individual from Ibadan Nigeria
Variation_72208 chr15:24663328-24664438 19812545 NimbleGen custom 42M oligo array CGH 0 1 1 NA 39 HapMap Individuals + NA15510 GABRA5
Variant ID Location Publication Method/platform Gain Lose Total Frequency Sample Size Genes
Variation_25490 chr15:24513080-24513080 17803354 Sequencing 1 0 1- 1 control sample (HuRef) GABRB3
Variation_61429 chr15:24572384-24573168 19470904 Illumina DNA sequencing 0 1 1- 1 male Korean individual, SJK
Variation_42283 chr15:24572517-24572980 18987735 Illumina DNA sequencing 0 1 1- 1 male Han Chinese individual
Variation_25491 chr15:24572589-24572897 17803354 Sequencing 0 1 1- 1 control sample (HuRef)
Variation_40074 chr15:24572589-24572897 18421352 Sequencing 0 1 1- 1 control sample (JD_Watson)
Variation_45324 chr15:24572591-24572891 18987734 Illumina DNA sequencing 0 1 1- 1 male Yoruba individual from Ibadan Nigeria
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:95621
  • Data Attributes: MGI curated and HomoloGene calculated
MGI Allele ID Allele Symbol Allele Source Allele Type / Mutant Cell line ID
MGI:1857174Gabrb3[tm1Geh]Allele from Mouse Targeted (knock-out)
  • nervous system phenotype
  • hearing/vestibular/ear phenotype
  • growth/size phenotype
  • digestive/alimentary phenotype
  • craniofacial phenotype
  • behavior/neurological phenotype
MGI:2449764Gabrb3[tm1Uru]Allele from Mouse Targeted (knock-in)
  • nervous system phenotype
  • behavior/neurological phenotype
MGI:3767246Gabrb3[tm2Geh]Allele from Mouse Targeted (Floxed/Frt)
  • no phenotypic analysis
MGI:3767248Gabrb3[tm2.1Geh]Allele from Mouse Targeted (Floxed/Frt)
  • normal phenotype
  • nervous system phenotype
  • growth/size phenotype
  • behavior/neurological phenotype
  • reproductive system phenotype
MGI:3767251Gabrb3[tm2.2Geh]Allele from Mouse Targeted (knock-out)
  • digestive/alimentary phenotype
  • craniofacial phenotype
MGI:4433146Gabrb3[tm1a(EUCOMM)Wtsi]Mutant from cell lines49659
-
MGI:4434328Gabrb3[tm1e(EUCOMM)Wtsi]Mutant from cell lines49659
-
MGI:4434589Gabrb3[tm1e(EUCOMM)Hmgu]Mutant from cell lines70101
-
MGI:4436240Gabrb3[tm1a(EUCOMM)Hmgu]Mutant from cell lines70101
-

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