Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GABRG3 (gamma-aminobutyric acid type A receptor gamma3 subunit)

Identity

Alias_namesgamma-aminobutyric acid (GABA) A receptor, gamma 3
Other alias-
HGNC (Hugo) GABRG3
LocusID (NCBI) 2567
Atlas_Id 63656
Location 15q12  [Link to chromosome band 15q12]
Location_base_pair Starts at 26971282 and ends at 27481333 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
GABRG3 (15q12) / CEP350 (1q25.2)GABRG3 (15q12) / OCA2 (15q12)OSBPL3 (7p15.3) / GABRG3 (15q12)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)GABRG3   4088
Cards
Entrez_Gene (NCBI)GABRG3  2567  gamma-aminobutyric acid type A receptor gamma3 subunit
Aliases
GeneCards (Weizmann)GABRG3
Ensembl hg19 (Hinxton)ENSG00000182256 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182256 [Gene_View]  ENSG00000182256 [Sequence]  chr15:26971282-27481333 [Contig_View]  GABRG3 [Vega]
ICGC DataPortalENSG00000182256
TCGA cBioPortalGABRG3
AceView (NCBI)GABRG3
Genatlas (Paris)GABRG3
WikiGenes2567
SOURCE (Princeton)GABRG3
Genetics Home Reference (NIH)GABRG3
Genomic and cartography
GoldenPath hg38 (UCSC)GABRG3  -     chr15:26971282-27481333 +  15q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRG3  -     15q12   [Description]    (hg19-Feb_2009)
GoldenPathGABRG3 - 15q12 [CytoView hg19]  GABRG3 - 15q12 [CytoView hg38]
ImmunoBaseENSG00000182256
Mapping of homologs : NCBIGABRG3 [Mapview hg19]  GABRG3 [Mapview hg38]
OMIM600233   
Gene and transcription
Genbank (Entrez)BC029850 BC045709 BG201662 BX282033 DN990720
RefSeq transcript (Entrez)NM_001270873 NM_033223
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRG3
Cluster EST : UnigeneHs.569475 [ NCBI ]
CGAP (NCI)Hs.569475
Alternative Splicing GalleryENSG00000182256
Gene ExpressionGABRG3 [ NCBI-GEO ]   GABRG3 [ EBI - ARRAY_EXPRESS ]   GABRG3 [ SEEK ]   GABRG3 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRG3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2567
GTEX Portal (Tissue expression)GABRG3
Human Protein AtlasENSG00000182256-GABRG3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99928   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99928  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99928
Splice isoforms : SwissVarQ99928
PhosPhoSitePlusQ99928
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABBAg3_rcpt    GABBAg_rcpt    Neur_chan_lig-bd    Neur_chan_lig-bd_sf    Neur_channel    Neuro-gated_channel_TM_sf    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS   
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
Conserved Domain (NCBI)GABRG3
DMDM Disease mutations2567
Blocks (Seattle)GABRG3
SuperfamilyQ99928
Human Protein Atlas [tissue]ENSG00000182256-GABRG3 [tissue]
Peptide AtlasQ99928
HPRD02579
IPIIPI00294459   IPI01025619   IPI01025504   IPI01025393   IPI00796324   
Protein Interaction databases
DIP (DOE-UCLA)Q99928
IntAct (EBI)Q99928
FunCoupENSG00000182256
BioGRIDGABRG3
STRING (EMBL)GABRG3
ZODIACGABRG3
Ontologies - Pathways
QuickGOQ99928
Ontology : AmiGOGABA-A receptor activity  extracellular ligand-gated ion channel activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  benzodiazepine receptor activity  GABA-gated chloride ion channel activity  cell junction  dendrite membrane  ion transmembrane transport  chloride channel complex  regulation of membrane potential  response to drug  neuron projection  synapse  postsynaptic membrane  nervous system process  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  postsynapse  GABA-ergic synapse  integral component of synaptic membrane  chloride transmembrane transport  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  
Ontology : EGO-EBIGABA-A receptor activity  extracellular ligand-gated ion channel activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  benzodiazepine receptor activity  GABA-gated chloride ion channel activity  cell junction  dendrite membrane  ion transmembrane transport  chloride channel complex  regulation of membrane potential  response to drug  neuron projection  synapse  postsynaptic membrane  nervous system process  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  postsynapse  GABA-ergic synapse  integral component of synaptic membrane  chloride transmembrane transport  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkGABRG3
Atlas of Cancer Signalling NetworkGABRG3
Wikipedia pathwaysGABRG3
Orthology - Evolution
OrthoDB2567
GeneTree (enSembl)ENSG00000182256
Phylogenetic Trees/Animal Genes : TreeFamGABRG3
HOGENOMQ99928
Homologs : HomoloGeneGABRG3
Homology/Alignments : Family Browser (UCSC)GABRG3
Gene fusions - Rearrangements
Fusion : QuiverGABRG3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRG3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRG3
dbVarGABRG3
ClinVarGABRG3
1000_GenomesGABRG3 
Exome Variant ServerGABRG3
ExAC (Exome Aggregation Consortium)ENSG00000182256
GNOMAD BrowserENSG00000182256
Varsome BrowserGABRG3
Genetic variants : HAPMAP2567
Genomic Variants (DGV)GABRG3 [DGVbeta]
DECIPHERGABRG3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRG3 
Mutations
ICGC Data PortalGABRG3 
TCGA Data PortalGABRG3 
Broad Tumor PortalGABRG3
OASIS PortalGABRG3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRG3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGABRG3
Mutations and Diseases : HGMDGABRG3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GABRG3
DgiDB (Drug Gene Interaction Database)GABRG3
DoCM (Curated mutations)GABRG3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRG3 (select a term)
intoGenGABRG3
Cancer3DGABRG3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600233   
Orphanet
DisGeNETGABRG3
MedgenGABRG3
Genetic Testing Registry GABRG3
NextProtQ99928 [Medical]
TSGene2567
GENETestsGABRG3
Target ValidationGABRG3
Huge Navigator GABRG3 [HugePedia]
snp3D : Map Gene to Disease2567
BioCentury BCIQGABRG3
ClinGenGABRG3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2567
Chemical/Pharm GKB GenePA28502
Clinical trialGABRG3
Miscellaneous
canSAR (ICR)GABRG3 (select the gene name)
DataMed IndexGABRG3
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRG3
EVEXGABRG3
GoPubMedGABRG3
iHOPGABRG3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:29:17 CEST 2019
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