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GABRG2 (gamma-aminobutyric acid type A receptor gamma2 subunit)

Identity

Alias_namesgamma 2
Other aliasCAE2
ECA2
GEFSP3
HGNC (Hugo) GABRG2
LocusID (NCBI) 2566
Atlas_Id 56154
Location 5q34  [Link to chromosome band 5q34]
Location_base_pair Starts at 162067642 and ends at 162155539 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)
GABRG2 (5q34) / GABRG2 (5q34)GABRG2 (5q34) / SCD (10q24.31)

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)GABRG2   4087
Cards
Entrez_Gene (NCBI)GABRG2  2566  gamma-aminobutyric acid type A receptor gamma2 subunit
AliasesCAE2; ECA2; GEFSP3
GeneCards (Weizmann)GABRG2
Ensembl hg19 (Hinxton)ENSG00000113327 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000113327 [Gene_View]  ENSG00000113327 [Sequence]  chr5:162067642-162155539 [Contig_View]  GABRG2 [Vega]
ICGC DataPortalENSG00000113327
TCGA cBioPortalGABRG2
AceView (NCBI)GABRG2
Genatlas (Paris)GABRG2
WikiGenes2566
SOURCE (Princeton)GABRG2
Genetics Home Reference (NIH)GABRG2
Genomic and cartography
GoldenPath hg38 (UCSC)GABRG2  -     chr5:162067642-162155539 +  5q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRG2  -     5q34   [Description]    (hg19-Feb_2009)
EnsemblGABRG2 - 5q34 [CytoView hg19]  GABRG2 - 5q34 [CytoView hg38]
Mapping of homologs : NCBIGABRG2 [Mapview hg19]  GABRG2 [Mapview hg38]
OMIM137164   607681   611277   
Gene and transcription
Genbank (Entrez)AK123394 AK299640 AK315200 BC036030 BC052926
RefSeq transcript (Entrez)NM_000816 NM_198903 NM_198904
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRG2
Cluster EST : UnigeneHs.7195 [ NCBI ]
CGAP (NCI)Hs.7195
Alternative Splicing GalleryENSG00000113327
Gene ExpressionGABRG2 [ NCBI-GEO ]   GABRG2 [ EBI - ARRAY_EXPRESS ]   GABRG2 [ SEEK ]   GABRG2 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRG2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2566
GTEX Portal (Tissue expression)GABRG2
Human Protein AtlasENSG00000113327-GABRG2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18507   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP18507  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP18507
Splice isoforms : SwissVarP18507
PhosPhoSitePlusP18507
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABBAg2_rcpt    GABBAg_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)GABRG2
DMDM Disease mutations2566
Blocks (Seattle)GABRG2
SuperfamilyP18507
Human Protein Atlas [tissue]ENSG00000113327-GABRG2 [tissue]
Peptide AtlasP18507
HPRD00663
IPIIPI00000023   IPI00419200   IPI00982076   IPI00396250   IPI00973857   IPI00977911   
Protein Interaction databases
DIP (DOE-UCLA)P18507
IntAct (EBI)P18507
FunCoupENSG00000113327
BioGRIDGABRG2
STRING (EMBL)GABRG2
ZODIACGABRG2
Ontologies - Pathways
QuickGOP18507
Ontology : AmiGOGABA-A receptor activity  GABA-A receptor activity  extracellular ligand-gated ion channel activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  chloride channel activity  protein binding  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  benzodiazepine receptor activity  post-embryonic development  GABA-gated chloride ion channel activity  cell junction  axon  adult behavior  cytoplasmic vesicle membrane  dendrite membrane  dendrite membrane  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  postsynaptic membrane  nervous system process  synaptic transmission, GABAergic  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  cellular response to histamine  postsynapse  GABA-ergic synapse  chloride transmembrane transport  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  
Ontology : EGO-EBIGABA-A receptor activity  GABA-A receptor activity  extracellular ligand-gated ion channel activity  inhibitory extracellular ligand-gated ion channel activity  chloride channel activity  chloride channel activity  protein binding  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  benzodiazepine receptor activity  post-embryonic development  GABA-gated chloride ion channel activity  cell junction  axon  adult behavior  cytoplasmic vesicle membrane  dendrite membrane  dendrite membrane  ion transmembrane transport  chloride channel complex  regulation of membrane potential  neuron projection  synapse  postsynaptic membrane  nervous system process  synaptic transmission, GABAergic  synaptic transmission, GABAergic  regulation of postsynaptic membrane potential  cellular response to histamine  postsynapse  GABA-ergic synapse  chloride transmembrane transport  chloride transmembrane transport  GABA-A receptor complex  GABA-A receptor complex  transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential  
Pathways : KEGGNeuroactive ligand-receptor interaction    Retrograde endocannabinoid signaling    GABAergic synapse    Morphine addiction    Nicotine addiction   
NDEx NetworkGABRG2
Atlas of Cancer Signalling NetworkGABRG2
Wikipedia pathwaysGABRG2
Orthology - Evolution
OrthoDB2566
GeneTree (enSembl)ENSG00000113327
Phylogenetic Trees/Animal Genes : TreeFamGABRG2
HOVERGENP18507
HOGENOMP18507
Homologs : HomoloGeneGABRG2
Homology/Alignments : Family Browser (UCSC)GABRG2
Gene fusions - Rearrangements
Fusion : QuiverGABRG2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRG2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRG2
dbVarGABRG2
ClinVarGABRG2
1000_GenomesGABRG2 
Exome Variant ServerGABRG2
ExAC (Exome Aggregation Consortium)ENSG00000113327
GNOMAD BrowserENSG00000113327
Varsome BrowserGABRG2
Genetic variants : HAPMAP2566
Genomic Variants (DGV)GABRG2 [DGVbeta]
DECIPHERGABRG2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRG2 
Mutations
ICGC Data PortalGABRG2 
TCGA Data PortalGABRG2 
Broad Tumor PortalGABRG2
OASIS PortalGABRG2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRG2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABRG2
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 GABRG2
DgiDB (Drug Gene Interaction Database)GABRG2
DoCM (Curated mutations)GABRG2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRG2 (select a term)
intoGenGABRG2
Cancer3DGABRG2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137164    607681    611277   
Orphanet3321    10832    10424    10307   
DisGeNETGABRG2
MedgenGABRG2
Genetic Testing Registry GABRG2
NextProtP18507 [Medical]
TSGene2566
GENETestsGABRG2
Target ValidationGABRG2
Huge Navigator GABRG2 [HugePedia]
snp3D : Map Gene to Disease2566
BioCentury BCIQGABRG2
ClinGenGABRG2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2566
Chemical/Pharm GKB GenePA28501
Clinical trialGABRG2
Miscellaneous
canSAR (ICR)GABRG2 (select the gene name)
Probes
Litterature
PubMed141 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRG2
EVEXGABRG2
GoPubMedGABRG2
iHOPGABRG2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:07:41 CET 2018

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