Atlas of Genetics and Cytogenetics in Oncology and Haematology


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

Identity

Alias (NCBI)-
HGNC (Hugo) GABRA3
HGNC Alias nameGABA(A) receptor, alpha 3
HGNC Previous namegamma-aminobutyric acid (GABA) A receptor, alpha 3
LocusID (NCBI) 2556
Atlas_Id 50916
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 152166234 and ends at 152451315 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)
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    gamma-aminobutyric acid type A receptor subunit alpha3
Aliases
GeneCards (Weizmann)GABRA3
Ensembl hg19 (Hinxton)ENSG00000011677 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000011677 [Gene_View]  ENSG00000011677 [Sequence]  chrX:152166234-152451315 [Contig_View]  GABRA3 [Vega]
ICGC DataPortalENSG00000011677
TCGA cBioPortalGABRA3
AceView (NCBI)GABRA3
Genatlas (Paris)GABRA3
SOURCE (Princeton)GABRA3
Genetics Home Reference (NIH)GABRA3
Genomic and cartography
GoldenPath hg38 (UCSC)GABRA3  -     chrX:152166234-152451315 -  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRA3  -     Xq28   [Description]    (hg19-Feb_2009)
GoldenPathGABRA3 - Xq28 [CytoView hg19]  GABRA3 - Xq28 [CytoView hg38]
ImmunoBaseENSG00000011677
Genome Data Viewer NCBIGABRA3 [Mapview hg19]  
OMIM305660   
Gene and transcription
Genbank (Entrez)A28102 AK312404 BC028629 DA402645 KJ620007
RefSeq transcript (Entrez)NM_000808
Consensus coding sequences : CCDS (NCBI)GABRA3
Gene ExpressionGABRA3 [ NCBI-GEO ]   GABRA3 [ EBI - ARRAY_EXPRESS ]   GABRA3 [ SEEK ]   GABRA3 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRA3 [ Firebrowse - Broad ]
GenevisibleExpression of GABRA3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2556
GTEX Portal (Tissue expression)GABRA3
Human Protein AtlasENSG00000011677-GABRA3 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP34903
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAa_rcpt    GABBAa3_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)GABRA3
SuperfamilyP34903
AlphaFold pdb e-kbP34903   
Human Protein Atlas [tissue]ENSG00000011677-GABRA3 [tissue]
HPRD02375
Protein Interaction databases
DIP (DOE-UCLA)P34903
IntAct (EBI)P34903
BioGRIDGABRA3
STRING (EMBL)GABRA3
ZODIACGABRA3
Ontologies - Pathways
QuickGOP34903
Ontology : AmiGOGABA-A receptor activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  protein binding  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  neurotransmitter receptor activity  dendrite membrane  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  nervous system process  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  postsynapse  GABA-ergic synapse  integral component of postsynaptic specialization 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  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  protein binding  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  neurotransmitter receptor activity  dendrite membrane  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  nervous system process  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  postsynapse  GABA-ergic synapse  integral component of postsynaptic specialization membrane  chloride transmembrane transport  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  
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
Homologs : HomoloGeneGABRA3
Homology/Alignments : Family Browser (UCSC)GABRA3
Gene fusions - Rearrangements
Fusion : MitelmanGABRA3/DIAPH2 [Xq28/Xq21.33]  
Fusion : MitelmanSPATA7/GABRA3 [14q31.3/Xq28]  
Fusion : MitelmanTSPEAR-AS2/GABRA3 [21q22.3/Xq28]  
Fusion : QuiverGABRA3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRA3
dbVarGABRA3
ClinVarGABRA3
MonarchGABRA3
1000_GenomesGABRA3 
Exome Variant ServerGABRA3
GNOMAD BrowserENSG00000011677
Varsome BrowserGABRA3
ACMGGABRA3 variants
VarityP34903
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]  
Somatic Mutations in Cancer : COSMIC3DGABRA3
Mutations and Diseases : HGMDGABRA3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGABRA3
DgiDB (Drug Gene Interaction Database)GABRA3
DoCM (Curated mutations)GABRA3
CIViC (Clinical Interpretations of Variants in Cancer)GABRA3
Cancer3DGABRA3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM305660   
Orphanet11144   
DisGeNETGABRA3
MedgenGABRA3
Genetic Testing Registry GABRA3
NextProtP34903 [Medical]
GENETestsGABRA3
Target ValidationGABRA3
Huge Navigator GABRA3 [HugePedia]
ClinGenGABRA3
Clinical trials, drugs, therapy
MyCancerGenomeGABRA3
Protein Interactions : CTDGABRA3
Pharm GKB GenePA28491
PharosP34903
Clinical trialGABRA3
Miscellaneous
canSAR (ICR)GABRA3
HarmonizomeGABRA3
DataMed IndexGABRA3
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGABRA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:10:12 CEST 2021

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