Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GABRA2 (gamma-aminobutyric acid type A receptor alpha2 subunit)

Identity

Alias_namesalpha 2
Other alias-
HGNC (Hugo) GABRA2
LocusID (NCBI) 2555
Atlas_Id 56060
Location 4p12  [Link to chromosome band 4p12]
Location_base_pair Starts at 46251581 and ends at 46392056 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MPHOSPH10 (2p13.3) / GABRA2 (4p12)

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)GABRA2   4076
Cards
Entrez_Gene (NCBI)GABRA2  2555  gamma-aminobutyric acid type A receptor alpha2 subunit
Aliases
GeneCards (Weizmann)GABRA2
Ensembl hg19 (Hinxton)ENSG00000151834 [Gene_View]  chr4:46251581-46392056 [Contig_View]  GABRA2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000151834 [Gene_View]  chr4:46251581-46392056 [Contig_View]  GABRA2 [Vega]
ICGC DataPortalENSG00000151834
TCGA cBioPortalGABRA2
AceView (NCBI)GABRA2
Genatlas (Paris)GABRA2
WikiGenes2555
SOURCE (Princeton)GABRA2
Genetics Home Reference (NIH)GABRA2
Genomic and cartography
GoldenPath hg19 (UCSC)GABRA2  -     chr4:46251581-46392056 -  4p12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GABRA2  -     4p12   [Description]    (hg38-Dec_2013)
EnsemblGABRA2 - 4p12 [CytoView hg19]  GABRA2 - 4p12 [CytoView hg38]
Mapping of homologs : NCBIGABRA2 [Mapview hg19]  GABRA2 [Mapview hg38]
OMIM103780   137140   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_000807 NM_001114175 NM_001286827 NM_001330690
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRA2
Cluster EST : UnigeneHs.116250 [ NCBI ]
CGAP (NCI)Hs.116250
Alternative Splicing GalleryENSG00000151834
Gene ExpressionGABRA2 [ NCBI-GEO ]   GABRA2 [ EBI - ARRAY_EXPRESS ]   GABRA2 [ SEEK ]   GABRA2 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2555
GTEX Portal (Tissue expression)GABRA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP47869   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP47869  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP47869
Splice isoforms : SwissVarP47869
PhosPhoSitePlusP47869
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAa_rcpt    GABBAa2_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)GABRA2
DMDM Disease mutations2555
Blocks (Seattle)GABRA2
SuperfamilyP47869
Human Protein AtlasENSG00000151834
Peptide AtlasP47869
HPRD11747
IPIIPI00026631   IPI00964974   IPI00965882   IPI00965280   IPI00966617   IPI00967696   IPI00966909   IPI00922092   IPI00967951   
Protein Interaction databases
DIP (DOE-UCLA)P47869
IntAct (EBI)P47869
FunCoupENSG00000151834
BioGRIDGABRA2
STRING (EMBL)GABRA2
ZODIACGABRA2
Ontologies - Pathways
QuickGOP47869
Ontology : AmiGOregulation of neurotransmitter levels  GABA-A receptor activity  plasma membrane  neurotransmitter transport  gamma-aminobutyric acid signaling pathway  benzodiazepine receptor activity  GABA-gated chloride ion channel activity  cell junction  integral component of synaptic vesicle membrane  axon  dendrite  ion transmembrane transport  chloride channel complex  neuronal cell body  postsynaptic membrane  inhibitory synapse  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  
Ontology : EGO-EBIregulation of neurotransmitter levels  GABA-A receptor activity  plasma membrane  neurotransmitter transport  gamma-aminobutyric acid signaling pathway  benzodiazepine receptor activity  GABA-gated chloride ion channel activity  cell junction  integral component of synaptic vesicle membrane  axon  dendrite  ion transmembrane transport  chloride channel complex  neuronal cell body  postsynaptic membrane  inhibitory synapse  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  
Pathways : BIOCARTAGamma-aminobutyric Acid Receptor Life Cycle [Genes]    Cardiac Protection Against ROS [Genes]   
Pathways : KEGGNeuroactive ligand-receptor interaction    Retrograde endocannabinoid signaling    GABAergic synapse    Morphine addiction    Nicotine addiction   
NDEx NetworkGABRA2
Atlas of Cancer Signalling NetworkGABRA2
Wikipedia pathwaysGABRA2
Orthology - Evolution
OrthoDB2555
GeneTree (enSembl)ENSG00000151834
Phylogenetic Trees/Animal Genes : TreeFamGABRA2
HOVERGENP47869
HOGENOMP47869
Homologs : HomoloGeneGABRA2
Homology/Alignments : Family Browser (UCSC)GABRA2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRA2
dbVarGABRA2
ClinVarGABRA2
1000_GenomesGABRA2 
Exome Variant ServerGABRA2
ExAC (Exome Aggregation Consortium)GABRA2 (select the gene name)
Genetic variants : HAPMAP2555
Genomic Variants (DGV)GABRA2 [DGVbeta]
DECIPHER (Syndromes)4:46251581-46392056  ENSG00000151834
CONAN: Copy Number AnalysisGABRA2 
Mutations
ICGC Data PortalGABRA2 
TCGA Data PortalGABRA2 
Broad Tumor PortalGABRA2
OASIS PortalGABRA2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRA2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABRA2
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 GABRA2
DgiDB (Drug Gene Interaction Database)GABRA2
DoCM (Curated mutations)GABRA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRA2 (select a term)
intoGenGABRA2
Cancer3DGABRA2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM103780    137140   
Orphanet
MedgenGABRA2
Genetic Testing Registry GABRA2
NextProtP47869 [Medical]
TSGene2555
GENETestsGABRA2
Huge Navigator GABRA2 [HugePedia]
snp3D : Map Gene to Disease2555
BioCentury BCIQGABRA2
ClinGenGABRA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2555
Chemical/Pharm GKB GenePA28490
Clinical trialGABRA2
Miscellaneous
canSAR (ICR)GABRA2 (select the gene name)
Probes
Litterature
PubMed93 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRA2
EVEXGABRA2
GoPubMedGABRA2
iHOPGABRA2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:06:53 CET 2017

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