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GABRD (gamma-aminobutyric acid (GABA) A receptor, delta)

Identity

Alias_namesgamma-aminobutyric acid (GABA) A receptor, delta
Other aliasEIG10
EJM7
GEFSP5
HGNC (Hugo) GABRD
LocusID (NCBI) 2563
Atlas_Id 63652
Location 1p36.33  [Link to chromosome band 1p36]
Location_base_pair Starts at 1950768 and ends at 1962192 bp from pter ( according to hg19-Feb_2009)

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  2563  gamma-aminobutyric acid (GABA) A receptor, delta
AliasesEIG10; EJM7; GEFSP5
GeneCards (Weizmann)GABRD
Ensembl hg19 (Hinxton)ENSG00000187730 [Gene_View]  chr1:1950768-1962192 [Contig_View]  GABRD [Vega]
Ensembl hg38 (Hinxton)ENSG00000187730 [Gene_View]  chr1:1950768-1962192 [Contig_View]  GABRD [Vega]
ICGC DataPortalENSG00000187730
TCGA cBioPortalGABRD
AceView (NCBI)GABRD
Genatlas (Paris)GABRD
WikiGenes2563
SOURCE (Princeton)GABRD
Genetics Home Reference (NIH)GABRD
Genomic and cartography
GoldenPath hg19 (UCSC)GABRD  -     chr1:1950768-1962192 +  1p36.33   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GABRD  -     1p36.33   [Description]    (hg38-Dec_2013)
EnsemblGABRD - 1p36.33 [CytoView hg19]  GABRD - 1p36.33 [CytoView hg38]
Mapping of homologs : NCBIGABRD [Mapview hg19]  GABRD [Mapview hg38]
OMIM137163   613060   
Gene and transcription
Genbank (Entrez)AF016917 AI828107 AI936907 AK290861 AW291520
RefSeq transcript (Entrez)NM_000815
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_008168 NT_032977 NW_004929288
Consensus coding sequences : CCDS (NCBI)GABRD
Cluster EST : UnigeneHs.113882 [ NCBI ]
CGAP (NCI)Hs.113882
Alternative Splicing GalleryENSG00000187730
Gene ExpressionGABRD [ NCBI-GEO ]   GABRD [ EBI - ARRAY_EXPRESS ]   GABRD [ SEEK ]   GABRD [ MEM ]
Gene Expression Viewer (FireBrowse)GABRD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2563
GTEX Portal (Tissue expression)GABRD
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_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)GABRD
DMDM Disease mutations2563
Blocks (Seattle)GABRD
SuperfamilyO14764
Human Protein AtlasENSG00000187730
Peptide AtlasO14764
HPRD08842
IPIIPI00375475   
Protein Interaction databases
DIP (DOE-UCLA)O14764
IntAct (EBI)O14764
FunCoupENSG00000187730
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  transport  signal transduction  synaptic transmission  cell junction  chloride channel complex  postsynaptic membrane  chloride transmembrane transport  
Ontology : EGO-EBIGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  protein binding  integral component of plasma membrane  transport  signal transduction  synaptic transmission  cell junction  chloride channel complex  postsynaptic membrane  chloride transmembrane transport  
Pathways : KEGGNeuroactive ligand-receptor interaction    Retrograde endocannabinoid signaling    GABAergic synapse    Morphine addiction    Nicotine addiction   
NDEx NetworkGABRD
Atlas of Cancer Signalling NetworkGABRD
Wikipedia pathwaysGABRD
Orthology - Evolution
OrthoDB2563
GeneTree (enSembl)ENSG00000187730
Phylogenetic Trees/Animal Genes : TreeFamGABRD
HOVERGENO14764
HOGENOMO14764
Homologs : HomoloGeneGABRD
Homology/Alignments : Family Browser (UCSC)GABRD
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRD
dbVarGABRD
ClinVarGABRD
1000_GenomesGABRD 
Exome Variant ServerGABRD
ExAC (Exome Aggregation Consortium)GABRD (select the gene name)
Genetic variants : HAPMAP2563
Genomic Variants (DGV)GABRD [DGVbeta]
DECIPHER (Syndromes)1:1950768-1962192  ENSG00000187730
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137163    613060   
Orphanet102    1738    10424   
MedgenGABRD
Genetic Testing Registry GABRD
NextProtO14764 [Medical]
TSGene2563
GENETestsGABRD
Huge Navigator GABRD [HugePedia]
snp3D : Map Gene to Disease2563
BioCentury BCIQGABRD
ClinGenGABRD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2563
Chemical/Pharm GKB GenePA28498
Clinical trialGABRD
Miscellaneous
canSAR (ICR)GABRD (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRD
EVEXGABRD
GoPubMedGABRD
iHOPGABRD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:05:38 CET 2017

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