Atlas of Genetics and Cytogenetics in Oncology and Haematology

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GABRD (gamma-aminobutyric acid type A receptor subunit delta)

Identity

Alias (NCBI)EIG10
EJM7
GEFSP5
HGNC (Hugo) GABRD
HGNC Alias nameGABA(A) receptor, delta
HGNC Previous namegamma-aminobutyric acid (GABA) A receptor, delta
LocusID (NCBI) 2563
Atlas_Id 63652
Location 1p36.33  [Link to chromosome band 1p36]
Location_base_pair Starts at 2019329 and ends at 2030753 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)

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)GABRD   4084
Cards
Entrez_Gene (NCBI)GABRD    gamma-aminobutyric acid type A receptor subunit delta
AliasesEIG10; EJM7; GEFSP5
GeneCards (Weizmann)GABRD
Ensembl hg19 (Hinxton)ENSG00000187730 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000187730 [Gene_View]  ENSG00000187730 [Sequence]  chr1:2019329-2030753 [Contig_View]  GABRD [Vega]
ICGC DataPortalENSG00000187730
TCGA cBioPortalGABRD
AceView (NCBI)GABRD
Genatlas (Paris)GABRD
SOURCE (Princeton)GABRD
Genetics Home Reference (NIH)GABRD
Genomic and cartography
GoldenPath hg38 (UCSC)GABRD  -     chr1:2019329-2030753 +  1p36.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRD  -     1p36.33   [Description]    (hg19-Feb_2009)
GoldenPathGABRD - 1p36.33 [CytoView hg19]  GABRD - 1p36.33 [CytoView hg38]
ImmunoBaseENSG00000187730
genome Data Viewer NCBIGABRD [Mapview hg19]  
OMIM137163   613060   
Gene and transcription
Genbank (Entrez)AF016917 AI828107 AI936907 AK290861 AW291520
RefSeq transcript (Entrez)NM_000815
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRD
Alternative Splicing GalleryENSG00000187730
Gene ExpressionGABRD [ NCBI-GEO ]   GABRD [ EBI - ARRAY_EXPRESS ]   GABRD [ SEEK ]   GABRD [ MEM ]
Gene Expression Viewer (FireBrowse)GABRD [ Firebrowse - Broad ]
GenevisibleExpression of GABRD in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2563
GTEX Portal (Tissue expression)GABRD
Human Protein AtlasENSG00000187730-GABRD [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14764   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14764  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14764
Splice isoforms : SwissVarO14764
PhosPhoSitePlusO14764
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAd_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)GABRD
Blocks (Seattle)GABRD
SuperfamilyO14764
Human Protein Atlas [tissue]ENSG00000187730-GABRD [tissue]
Peptide AtlasO14764
HPRD08842
IPIIPI00375475   
Protein Interaction databases
DIP (DOE-UCLA)O14764
IntAct (EBI)O14764
BioGRIDGABRD
STRING (EMBL)GABRD
ZODIACGABRD
Ontologies - Pathways
QuickGOO14764
Ontology : AmiGOGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  protein binding  integral component of plasma membrane  signal transduction  chemical synaptic transmission  cell junction  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  nervous system process  regulation of postsynaptic membrane potential  glutamatergic synapse  GABA-ergic synapse  integral component of postsynaptic membrane  chloride transmembrane transport  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  
Ontology : EGO-EBIGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  protein binding  integral component of plasma membrane  signal transduction  chemical synaptic transmission  cell junction  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  nervous system process  regulation of postsynaptic membrane potential  glutamatergic synapse  GABA-ergic synapse  integral component of postsynaptic membrane  chloride transmembrane transport  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkGABRD
Atlas of Cancer Signalling NetworkGABRD
Wikipedia pathwaysGABRD
Orthology - Evolution
OrthoDB2563
GeneTree (enSembl)ENSG00000187730
Phylogenetic Trees/Animal Genes : TreeFamGABRD
HOGENOMO14764
Homologs : HomoloGeneGABRD
Homology/Alignments : Family Browser (UCSC)GABRD
Gene fusions - Rearrangements
Fusion : QuiverGABRD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRD [hg38]
dbVarGABRD
ClinVarGABRD
MonarchGABRD
1000_GenomesGABRD 
Exome Variant ServerGABRD
GNOMAD BrowserENSG00000187730
Varsome BrowserGABRD
Genomic Variants (DGV)GABRD [DGVbeta]
DECIPHERGABRD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRD 
Mutations
ICGC Data PortalGABRD 
TCGA Data PortalGABRD 
Broad Tumor PortalGABRD
OASIS PortalGABRD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRD  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGABRD
Mutations and Diseases : HGMDGABRD
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 GABRD
DgiDB (Drug Gene Interaction Database)GABRD
DoCM (Curated mutations)GABRD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRD (select a term)
intoGenGABRD
Cancer3DGABRD(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137163    613060   
Orphanet102    1738    10424   
DisGeNETGABRD
MedgenGABRD
Genetic Testing Registry GABRD
NextProtO14764 [Medical]
GENETestsGABRD
Target ValidationGABRD
Huge Navigator GABRD [HugePedia]
ClinGenGABRD
Clinical trials, drugs, therapy
MyCancerGenomeGABRD
Protein Interactions : CTD
Pharm GKB GenePA28498
Clinical trialGABRD
Miscellaneous
canSAR (ICR)GABRD (select the gene name)
HarmonizomeGABRD
DataMed IndexGABRD
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRD
EVEXGABRD
GoPubMedGABRD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:55:10 CET 2020
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