Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GABRA3 (gamma-aminobutyric acid type A receptor alpha3 subunit)

Identity

Alias_namesalpha 3
Other alias-
HGNC (Hugo) GABRA3
LocusID (NCBI) 2556
Atlas_Id 50916
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 152167162 and ends at 152451359 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ERICH1 (8p23.3) / GABRA3 (Xq28)GABRA3 (Xq28) / DIAPH2 (Xq21.33)SPATA7 (14q31.3) / GABRA3 (Xq28)
TSPEAR-AS2 (21q22.3) / GABRA3 (Xq28)VBP1 (Xq28) / GABRA3 (Xq28)C21orf90 GABRA3 Xq28
GABRA3 Xq28 / DIAPH2 Xq21.33SPATA7 14q31.3 / GABRA3 Xq28VBP1 Xq28 / GABRA3 Xq28

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)GABRA3   4077
Cards
Entrez_Gene (NCBI)GABRA3  2556  gamma-aminobutyric acid type A receptor alpha3 subunit
Aliases
GeneCards (Weizmann)GABRA3
Ensembl hg19 (Hinxton)ENSG00000011677 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000011677 [Gene_View]  chrX:152167162-152451359 [Contig_View]  GABRA3 [Vega]
ICGC DataPortalENSG00000011677
TCGA cBioPortalGABRA3
AceView (NCBI)GABRA3
Genatlas (Paris)GABRA3
WikiGenes2556
SOURCE (Princeton)GABRA3
Genetics Home Reference (NIH)GABRA3
Genomic and cartography
GoldenPath hg38 (UCSC)GABRA3  -     chrX:152167162-152451359 -  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRA3  -     Xq28   [Description]    (hg19-Feb_2009)
EnsemblGABRA3 - Xq28 [CytoView hg19]  GABRA3 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIGABRA3 [Mapview hg19]  GABRA3 [Mapview hg38]
OMIM305660   
Gene and transcription
Genbank (Entrez)A28102 AK312404 BC028629 DA402645 DQ892408
RefSeq transcript (Entrez)NM_000808
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRA3
Cluster EST : UnigeneHs.123024 [ NCBI ]
CGAP (NCI)Hs.123024
Alternative Splicing GalleryENSG00000011677
Gene ExpressionGABRA3 [ NCBI-GEO ]   GABRA3 [ EBI - ARRAY_EXPRESS ]   GABRA3 [ SEEK ]   GABRA3 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2556
GTEX Portal (Tissue expression)GABRA3
Protein : pattern, domain, 3D structure
UniProt/SwissProtP34903   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP34903  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP34903
Splice isoforms : SwissVarP34903
PhosPhoSitePlusP34903
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAa_rcpt    GABBAa3_rcpt    Neur_chan_lig-bd    Neur_channel    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)GABRA3
DMDM Disease mutations2556
Blocks (Seattle)GABRA3
SuperfamilyP34903
Human Protein AtlasENSG00000011677
Peptide AtlasP34903
HPRD02375
IPIIPI00002897   IPI00640022   
Protein Interaction databases
DIP (DOE-UCLA)P34903
IntAct (EBI)P34903
FunCoupENSG00000011677
BioGRIDGABRA3
STRING (EMBL)GABRA3
ZODIACGABRA3
Ontologies - Pathways
QuickGOP34903
Ontology : AmiGOGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  protein binding  plasma membrane  integral component of plasma membrane  transport  gamma-aminobutyric acid signaling pathway  benzodiazepine receptor activity  cell junction  ion transmembrane transport  chloride channel complex  postsynaptic membrane  chloride transmembrane transport  GABA-A receptor complex  
Ontology : EGO-EBIGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  protein binding  plasma membrane  integral component of plasma membrane  transport  gamma-aminobutyric acid signaling pathway  benzodiazepine receptor activity  cell junction  ion transmembrane transport  chloride channel complex  postsynaptic membrane  chloride transmembrane transport  GABA-A receptor complex  
Pathways : BIOCARTACardiac Protection Against ROS [Genes]    Gamma-aminobutyric Acid Receptor Life Cycle [Genes]   
Pathways : KEGGNeuroactive ligand-receptor interaction    Retrograde endocannabinoid signaling    GABAergic synapse    Morphine addiction    Nicotine addiction   
NDEx NetworkGABRA3
Atlas of Cancer Signalling NetworkGABRA3
Wikipedia pathwaysGABRA3
Orthology - Evolution
OrthoDB2556
GeneTree (enSembl)ENSG00000011677
Phylogenetic Trees/Animal Genes : TreeFamGABRA3
HOVERGENP34903
HOGENOMP34903
Homologs : HomoloGeneGABRA3
Homology/Alignments : Family Browser (UCSC)GABRA3
Gene fusions - Rearrangements
Fusion : MitelmanGABRA3/DIAPH2 [Xq28/Xq21.33]  
Fusion : MitelmanSPATA7/GABRA3 [14q31.3/Xq28]  [t(X;14)(q28;q31)]  
Fusion : MitelmanTSPEAR-AS2/GABRA3 [21q22.3/Xq28]  [t(X;21)(q28;q22)]  
Fusion: TCGAC21orf90 GABRA3 Xq28 KIRC
Fusion: TCGAGABRA3 Xq28 DIAPH2 Xq21.33 KIRC
Fusion: TCGASPATA7 14q31.3 GABRA3 Xq28 BRCA
Fusion: TCGAVBP1 Xq28 GABRA3 Xq28 LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRA3
dbVarGABRA3
ClinVarGABRA3
1000_GenomesGABRA3 
Exome Variant ServerGABRA3
ExAC (Exome Aggregation Consortium)GABRA3 (select the gene name)
Genetic variants : HAPMAP2556
Genomic Variants (DGV)GABRA3 [DGVbeta]
DECIPHERGABRA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRA3 
Mutations
ICGC Data PortalGABRA3 
TCGA Data PortalGABRA3 
Broad Tumor PortalGABRA3
OASIS PortalGABRA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRA3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABRA3
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 GABRA3
DgiDB (Drug Gene Interaction Database)GABRA3
DoCM (Curated mutations)GABRA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRA3 (select a term)
intoGenGABRA3
Cancer3DGABRA3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM305660   
Orphanet11144   
MedgenGABRA3
Genetic Testing Registry GABRA3
NextProtP34903 [Medical]
TSGene2556
GENETestsGABRA3
Target ValidationGABRA3
Huge Navigator GABRA3 [HugePedia]
snp3D : Map Gene to Disease2556
BioCentury BCIQGABRA3
ClinGenGABRA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2556
Chemical/Pharm GKB GenePA28491
Clinical trialGABRA3
Miscellaneous
canSAR (ICR)GABRA3 (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRA3
EVEXGABRA3
GoPubMedGABRA3
iHOPGABRA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:34:41 CEST 2017

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