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GABRE (gamma-aminobutyric acid type A receptor subunit epsilon)

Identity

Alias (NCBI)-
HGNC (Hugo) GABRE
HGNC Alias nameGABA(A) receptor, epsilon
HGNC Previous namegamma-aminobutyric acid (GABA) A receptor, epsilon
LocusID (NCBI) 2564
Atlas_Id 55007
Location Xq28  [Link to chromosome band Xq28]
Location_base_pair Starts at 151953124 and ends at 151974676 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)
GABRE (Xq28) / GABRE (Xq28)GABRE (Xq28) / JUP (17q21.2)GABRE (Xq28) / PTPRM (18p11.23)
GABRE (Xq28) / SYNPO2 (4q26)GAS7 (17p13.1) / GABRE (Xq28)PPWD1 (5q12.3) / GABRE (Xq28)

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)GABRE   4085
Cards
Entrez_Gene (NCBI)GABRE    gamma-aminobutyric acid type A receptor subunit epsilon
Aliases
GeneCards (Weizmann)GABRE
Ensembl hg19 (Hinxton)ENSG00000102287 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000102287 [Gene_View]  ENSG00000102287 [Sequence]  chrX:151953124-151974676 [Contig_View]  GABRE [Vega]
ICGC DataPortalENSG00000102287
TCGA cBioPortalGABRE
AceView (NCBI)GABRE
Genatlas (Paris)GABRE
SOURCE (Princeton)GABRE
Genetics Home Reference (NIH)GABRE
Genomic and cartography
GoldenPath hg38 (UCSC)GABRE  -     chrX:151953124-151974676 -  Xq28   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRE  -     Xq28   [Description]    (hg19-Feb_2009)
GoldenPathGABRE - Xq28 [CytoView hg19]  GABRE - Xq28 [CytoView hg38]
ImmunoBaseENSG00000102287
Genome Data Viewer NCBIGABRE [Mapview hg19]  
OMIM300093   
Gene and transcription
Genbank (Entrez)AF086385 AK124085 AK299174 AK303072 AL603607
RefSeq transcript (Entrez)NM_004961 NM_021984 NM_021987 NM_021990
Consensus coding sequences : CCDS (NCBI)GABRE
Gene ExpressionGABRE [ NCBI-GEO ]   GABRE [ EBI - ARRAY_EXPRESS ]   GABRE [ SEEK ]   GABRE [ MEM ]
Gene Expression Viewer (FireBrowse)GABRE [ Firebrowse - Broad ]
GenevisibleExpression of GABRE in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2564
GTEX Portal (Tissue expression)GABRE
Human Protein AtlasENSG00000102287-GABRE [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78334   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78334  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78334
PhosPhoSitePlusP78334
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAe_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)GABRE
SuperfamilyP78334
AlphaFold pdb e-kbP78334   
Human Protein Atlas [tissue]ENSG00000102287-GABRE [tissue]
HPRD02104
Protein Interaction databases
DIP (DOE-UCLA)P78334
IntAct (EBI)P78334
BioGRIDGABRE
STRING (EMBL)GABRE
ZODIACGABRE
Ontologies - Pathways
QuickGOP78334
Ontology : AmiGOGABA-A receptor activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  benzodiazepine receptor activity  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  neurotransmitter receptor activity  dendrite membrane  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  postsynaptic membrane  nervous system process  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  postsynapse  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  negative regulation of chloride transport  
Ontology : EGO-EBIGABA-A receptor activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  benzodiazepine receptor activity  GABA-gated chloride ion channel activity  GABA-gated chloride ion channel activity  neurotransmitter receptor activity  dendrite membrane  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  postsynaptic membrane  nervous system process  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  postsynapse  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  negative regulation of chloride transport  
Pathways : KEGGNeuroactive ligand-receptor interaction    Retrograde endocannabinoid signaling    GABAergic synapse    Morphine addiction    Nicotine addiction   
NDEx NetworkGABRE
Atlas of Cancer Signalling NetworkGABRE
Wikipedia pathwaysGABRE
Orthology - Evolution
OrthoDB2564
GeneTree (enSembl)ENSG00000102287
Phylogenetic Trees/Animal Genes : TreeFamGABRE
Homologs : HomoloGeneGABRE
Homology/Alignments : Family Browser (UCSC)GABRE
Gene fusions - Rearrangements
Fusion : QuiverGABRE
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRE
dbVarGABRE
ClinVarGABRE
MonarchGABRE
1000_GenomesGABRE 
Exome Variant ServerGABRE
GNOMAD BrowserENSG00000102287
Varsome BrowserGABRE
ACMGGABRE variants
VarityP78334
Genomic Variants (DGV)GABRE [DGVbeta]
DECIPHERGABRE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRE 
Mutations
ICGC Data PortalGABRE 
TCGA Data PortalGABRE 
Broad Tumor PortalGABRE
OASIS PortalGABRE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRE  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGABRE
Mutations and Diseases : HGMDGABRE
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGABRE
DgiDB (Drug Gene Interaction Database)GABRE
DoCM (Curated mutations)GABRE
CIViC (Clinical Interpretations of Variants in Cancer)GABRE
Cancer3DGABRE
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300093   
Orphanet
DisGeNETGABRE
MedgenGABRE
Genetic Testing Registry GABRE
NextProtP78334 [Medical]
GENETestsGABRE
Target ValidationGABRE
Huge Navigator GABRE [HugePedia]
ClinGenGABRE
Clinical trials, drugs, therapy
MyCancerGenomeGABRE
Protein Interactions : CTDGABRE
Pharm GKB GenePA28499
PharosP78334
Clinical trialGABRE
Miscellaneous
canSAR (ICR)GABRE
HarmonizomeGABRE
DataMed IndexGABRE
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGABRE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:10:13 CEST 2021

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