Atlas of Genetics and Cytogenetics in Oncology and Haematology

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

Identity

Alias (NCBI)DEE79
EIEE79
HGNC (Hugo) GABRA5
HGNC Alias nameGABA(A) receptor, alpha 5
HGNC Previous namegamma-aminobutyric acid (GABA) A receptor, alpha 5
LocusID (NCBI) 2558
Atlas_Id 57688
Location 15q12  [Link to chromosome band 15q12]
Location_base_pair Starts at 26867126 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    gamma-aminobutyric acid type A receptor subunit alpha5
AliasesDEE79; EIEE79
GeneCards (Weizmann)GABRA5
Ensembl hg19 (Hinxton)ENSG00000186297 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000186297 [Gene_View]  ENSG00000186297 [Sequence]  chr15:26867126-26949210 [Contig_View]  GABRA5 [Vega]
ICGC DataPortalENSG00000186297
TCGA cBioPortalGABRA5
AceView (NCBI)GABRA5
Genatlas (Paris)GABRA5
SOURCE (Princeton)GABRA5
Genetics Home Reference (NIH)GABRA5
Genomic and cartography
GoldenPath hg38 (UCSC)GABRA5  -     chr15:26867126-26949210 +  15q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRA5  -     15q12   [Description]    (hg19-Feb_2009)
GoldenPathGABRA5 - 15q12 [CytoView hg19]  GABRA5 - 15q12 [CytoView hg38]
ImmunoBaseENSG00000186297
genome Data Viewer NCBIGABRA5 [Mapview hg19]  
OMIM137142   618559   
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
Alternative Splicing GalleryENSG00000186297
Gene ExpressionGABRA5 [ NCBI-GEO ]   GABRA5 [ EBI - ARRAY_EXPRESS ]   GABRA5 [ SEEK ]   GABRA5 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRA5 [ Firebrowse - Broad ]
GenevisibleExpression of GABRA5 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_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)GABRA5
Blocks (Seattle)GABRA5
PDB (RSDB)5O8F    5OJM    6A96   
PDB Europe5O8F    5OJM    6A96   
PDB (PDBSum)5O8F    5OJM    6A96   
PDB (IMB)5O8F    5OJM    6A96   
Structural Biology KnowledgeBase5O8F    5OJM    6A96   
SCOP (Structural Classification of Proteins)5O8F    5OJM    6A96   
CATH (Classification of proteins structures)5O8F    5OJM    6A96   
SuperfamilyP31644
Human Protein Atlas [tissue]ENSG00000186297-GABRA5 [tissue]
Peptide AtlasP31644
IPIIPI00012471   IPI01026218   IPI01026082   IPI00979336   IPI00980062   IPI01024874   IPI01024770   IPI01026417   
Protein Interaction databases
DIP (DOE-UCLA)P31644
IntAct (EBI)P31644
BioGRIDGABRA5
STRING (EMBL)GABRA5
ZODIACGABRA5
Ontologies - Pathways
QuickGOP31644
Ontology : AmiGObehavioral fear response  GABA-A receptor activity  transporter activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  nucleoplasm  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  brain development  sensory perception of sound  associative learning  benzodiazepine receptor activity  GABA-gated chloride ion channel activity  neurotransmitter receptor activity  dendrite membrane  neuronal cell body membrane  ion transmembrane transport  chloride channel complex  signaling receptor activity  regulation of membrane potential  neuron projection  negative regulation of neuron apoptotic process  synapse  GABA receptor binding  nervous system process  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  inner ear receptor cell development  innervation  cochlea development  postsynapse  GABA-ergic synapse  integral component of presynaptic membrane  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-EBIbehavioral fear response  GABA-A receptor activity  transporter activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  nucleoplasm  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  brain development  sensory perception of sound  associative learning  benzodiazepine receptor activity  GABA-gated chloride ion channel activity  neurotransmitter receptor activity  dendrite membrane  neuronal cell body membrane  ion transmembrane transport  chloride channel complex  signaling receptor activity  regulation of membrane potential  neuron projection  negative regulation of neuron apoptotic process  synapse  GABA receptor binding  nervous system process  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  inner ear receptor cell development  innervation  cochlea development  postsynapse  GABA-ergic synapse  integral component of presynaptic membrane  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 : 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
HOGENOMP31644
Homologs : HomoloGeneGABRA5
Homology/Alignments : Family Browser (UCSC)GABRA5
Gene fusions - Rearrangements
Fusion : QuiverGABRA5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRA5 [hg38]
dbVarGABRA5
ClinVarGABRA5
MonarchGABRA5
1000_GenomesGABRA5 
Exome Variant ServerGABRA5
GNOMAD BrowserENSG00000186297
Varsome BrowserGABRA5
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]  
Somatic Mutations in Cancer : COSMIC3DGABRA5
Mutations and Diseases : HGMDGABRA5
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137142    618559   
Orphanet
DisGeNETGABRA5
MedgenGABRA5
Genetic Testing Registry GABRA5
NextProtP31644 [Medical]
GENETestsGABRA5
Target ValidationGABRA5
Huge Navigator GABRA5 [HugePedia]
ClinGenGABRA5
Clinical trials, drugs, therapy
MyCancerGenomeGABRA5
Protein Interactions : CTD
Pharm GKB GenePA28493
PharosP31644
Clinical trialGABRA5
Miscellaneous
canSAR (ICR)GABRA5 (select the gene name)
HarmonizomeGABRA5
DataMed IndexGABRA5
Probes
Litterature
PubMed54 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGABRA5
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 : Thu Mar 25 19:22:26 CET 2021
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