Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

GABRA5 (gamma-aminobutyric acid type A receptor alpha5 subunit)

Identity

Alias_namesgamma-aminobutyric acid (GABA) A receptor, alpha 5
Other alias-
HGNC (Hugo) GABRA5
LocusID (NCBI) 2558
Atlas_Id 63649
Location 15q12  [Link to chromosome band 15q12]
Location_base_pair Starts at 26866719 and ends at 26949210 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)
NEDD4 (15q21.3) / GABRA5 (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)GABRA5   4079
Cards
Entrez_Gene (NCBI)GABRA5  2558  gamma-aminobutyric acid type A receptor alpha5 subunit
Aliases
GeneCards (Weizmann)GABRA5
Ensembl hg19 (Hinxton)ENSG00000186297 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186297 [Gene_View]  chr15:26866719-26949210 [Contig_View]  GABRA5 [Vega]
ICGC DataPortalENSG00000186297
TCGA cBioPortalGABRA5
AceView (NCBI)GABRA5
Genatlas (Paris)GABRA5
WikiGenes2558
SOURCE (Princeton)GABRA5
Genetics Home Reference (NIH)GABRA5
Genomic and cartography
GoldenPath hg38 (UCSC)GABRA5  -     chr15:26866719-26949210 +  15q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRA5  -     15q12   [Description]    (hg19-Feb_2009)
EnsemblGABRA5 - 15q12 [CytoView hg19]  GABRA5 - 15q12 [CytoView hg38]
Mapping of homologs : NCBIGABRA5 [Mapview hg19]  GABRA5 [Mapview hg38]
OMIM137142   
Gene and transcription
Genbank (Entrez)A28104 AK124673 AK126891 AK290453 AK294303
RefSeq transcript (Entrez)NM_000810 NM_001165037
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRA5
Cluster EST : UnigeneHs.24969 [ NCBI ]
CGAP (NCI)Hs.24969
Alternative Splicing GalleryENSG00000186297
Gene ExpressionGABRA5 [ NCBI-GEO ]   GABRA5 [ EBI - ARRAY_EXPRESS ]   GABRA5 [ SEEK ]   GABRA5 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRA5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2558
GTEX Portal (Tissue expression)GABRA5
Human Protein AtlasENSG00000186297-GABRA5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP31644   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP31644  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP31644
Splice isoforms : SwissVarP31644
PhosPhoSitePlusP31644
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAa_rcpt    GABBAa5_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)GABRA5
DMDM Disease mutations2558
Blocks (Seattle)GABRA5
SuperfamilyP31644
Human Protein Atlas [tissue]ENSG00000186297-GABRA5 [tissue]
Peptide AtlasP31644
HPRD08840
IPIIPI00012471   IPI01026218   IPI01026082   IPI00979336   IPI00980062   IPI01024874   IPI01024770   IPI01026417   
Protein Interaction databases
DIP (DOE-UCLA)P31644
IntAct (EBI)P31644
FunCoupENSG00000186297
BioGRIDGABRA5
STRING (EMBL)GABRA5
ZODIACGABRA5
Ontologies - Pathways
QuickGOP31644
Ontology : AmiGObehavioral fear response  receptor activity  GABA-A receptor activity  transporter activity  extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral component of plasma membrane  transport  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  brain development  sensory perception of sound  associative learning  cell junction  dendrite  neuronal cell body membrane  ion transmembrane transport  chloride channel complex  negative regulation of neuron apoptotic process  postsynaptic membrane  GABA receptor binding  inner ear receptor cell development  innervation  cochlea development  chloride transmembrane transport  GABA-A receptor complex  
Ontology : EGO-EBIbehavioral fear response  receptor activity  GABA-A receptor activity  transporter activity  extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral component of plasma membrane  transport  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  brain development  sensory perception of sound  associative learning  cell junction  dendrite  neuronal cell body membrane  ion transmembrane transport  chloride channel complex  negative regulation of neuron apoptotic process  postsynaptic membrane  GABA receptor binding  inner ear receptor cell development  innervation  cochlea development  chloride transmembrane transport  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 NetworkGABRA5
Atlas of Cancer Signalling NetworkGABRA5
Wikipedia pathwaysGABRA5
Orthology - Evolution
OrthoDB2558
GeneTree (enSembl)ENSG00000186297
Phylogenetic Trees/Animal Genes : TreeFamGABRA5
HOVERGENP31644
HOGENOMP31644
Homologs : HomoloGeneGABRA5
Homology/Alignments : Family Browser (UCSC)GABRA5
Gene fusions - Rearrangements
Tumor Fusion PortalGABRA5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRA5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRA5
dbVarGABRA5
ClinVarGABRA5
1000_GenomesGABRA5 
Exome Variant ServerGABRA5
ExAC (Exome Aggregation Consortium)ENSG00000186297
GNOMAD BrowserENSG00000186297
Genetic variants : HAPMAP2558
Genomic Variants (DGV)GABRA5 [DGVbeta]
DECIPHERGABRA5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRA5 
Mutations
ICGC Data PortalGABRA5 
TCGA Data PortalGABRA5 
Broad Tumor PortalGABRA5
OASIS PortalGABRA5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRA5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABRA5
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 GABRA5
DgiDB (Drug Gene Interaction Database)GABRA5
DoCM (Curated mutations)GABRA5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRA5 (select a term)
intoGenGABRA5
Cancer3DGABRA5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137142   
Orphanet
DisGeNETGABRA5
MedgenGABRA5
Genetic Testing Registry GABRA5
NextProtP31644 [Medical]
TSGene2558
GENETestsGABRA5
Target ValidationGABRA5
Huge Navigator GABRA5 [HugePedia]
snp3D : Map Gene to Disease2558
BioCentury BCIQGABRA5
ClinGenGABRA5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2558
Chemical/Pharm GKB GenePA28493
Clinical trialGABRA5
Miscellaneous
canSAR (ICR)GABRA5 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRA5
EVEXGABRA5
GoPubMedGABRA5
iHOPGABRA5
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 : Tue Nov 21 13:31:12 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.