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GABRR2 (gamma-aminobutyric acid type A receptor rho2 subunit)

Identity

Alias_namesrho 2
Other alias-
HGNC (Hugo) GABRR2
LocusID (NCBI) 2570
Atlas_Id 54321
Location 6q15  [Link to chromosome band 6q15]
Location_base_pair Starts at 89254466 and ends at 89315299 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)
AATF (17q12) / GABRR2 (6q15)CCR6 (6q27) / GABRR2 (6q15)GABRR2 (6q15) / ME1 (6q14.2)
ME1 (6q14.2) / GABRR2 (6q15)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Lung: Translocations in Squamous Cell Carcinoma
t(6;6)(q14;q15) ME1/GABRR2
t(6;6)(q14;q15) GABRR2/ME1


External links

Nomenclature
HGNC (Hugo)GABRR2   4091
Cards
Entrez_Gene (NCBI)GABRR2  2570  gamma-aminobutyric acid type A receptor rho2 subunit
Aliases
GeneCards (Weizmann)GABRR2
Ensembl hg19 (Hinxton)ENSG00000111886 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000111886 [Gene_View]  ENSG00000111886 [Sequence]  chr6:89254466-89315299 [Contig_View]  GABRR2 [Vega]
ICGC DataPortalENSG00000111886
TCGA cBioPortalGABRR2
AceView (NCBI)GABRR2
Genatlas (Paris)GABRR2
WikiGenes2570
SOURCE (Princeton)GABRR2
Genetics Home Reference (NIH)GABRR2
Genomic and cartography
GoldenPath hg38 (UCSC)GABRR2  -     chr6:89254466-89315299 -  6q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABRR2  -     6q15   [Description]    (hg19-Feb_2009)
EnsemblGABRR2 - 6q15 [CytoView hg19]  GABRR2 - 6q15 [CytoView hg38]
Mapping of homologs : NCBIGABRR2 [Mapview hg19]  GABRR2 [Mapview hg38]
OMIM137162   
Gene and transcription
Genbank (Entrez)AK293751 AW152520 BC130352 BC130354 BX490975
RefSeq transcript (Entrez)NM_002043
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABRR2
Cluster EST : UnigeneHs.719891 [ NCBI ]
CGAP (NCI)Hs.719891
Alternative Splicing GalleryENSG00000111886
Gene ExpressionGABRR2 [ NCBI-GEO ]   GABRR2 [ EBI - ARRAY_EXPRESS ]   GABRR2 [ SEEK ]   GABRR2 [ MEM ]
Gene Expression Viewer (FireBrowse)GABRR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2570
GTEX Portal (Tissue expression)GABRR2
Human Protein AtlasENSG00000111886-GABRR2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28476   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28476  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28476
Splice isoforms : SwissVarP28476
PhosPhoSitePlusP28476
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)GABAA/Glycine_rcpt    GABAAa_rho2_rcpt    GABAAa_rho_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)GABRR2
DMDM Disease mutations2570
Blocks (Seattle)GABRR2
SuperfamilyP28476
Human Protein Atlas [tissue]ENSG00000111886-GABRR2 [tissue]
Peptide AtlasP28476
HPRD15922
IPIIPI00293005   
Protein Interaction databases
DIP (DOE-UCLA)P28476
IntAct (EBI)P28476
FunCoupENSG00000111886
BioGRIDGABRR2
STRING (EMBL)GABRR2
ZODIACGABRR2
Ontologies - Pathways
QuickGOP28476
Ontology : AmiGOGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  visual perception  protein domain specific binding  cell junction  chloride channel complex  postsynaptic membrane  chloride transmembrane transport  GABA-A receptor complex  
Ontology : EGO-EBIGABA-A receptor activity  extracellular ligand-gated ion channel activity  chloride channel activity  plasma membrane  integral component of plasma membrane  signal transduction  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  visual perception  protein domain specific binding  cell junction  chloride channel complex  postsynaptic membrane  chloride transmembrane transport  GABA-A receptor complex  
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkGABRR2
Atlas of Cancer Signalling NetworkGABRR2
Wikipedia pathwaysGABRR2
Orthology - Evolution
OrthoDB2570
GeneTree (enSembl)ENSG00000111886
Phylogenetic Trees/Animal Genes : TreeFamGABRR2
HOVERGENP28476
HOGENOMP28476
Homologs : HomoloGeneGABRR2
Homology/Alignments : Family Browser (UCSC)GABRR2
Gene fusions - Rearrangements
Fusion : MitelmanGABRR2/ME1 [6q15/6q14.2]  
Fusion : MitelmanME1/GABRR2 [6q14.2/6q15]  [t(6;6)(q14;q15)]  
Fusion : QuiverGABRR2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABRR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABRR2
dbVarGABRR2
ClinVarGABRR2
1000_GenomesGABRR2 
Exome Variant ServerGABRR2
ExAC (Exome Aggregation Consortium)ENSG00000111886
GNOMAD BrowserENSG00000111886
Genetic variants : HAPMAP2570
Genomic Variants (DGV)GABRR2 [DGVbeta]
DECIPHERGABRR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABRR2 
Mutations
ICGC Data PortalGABRR2 
TCGA Data PortalGABRR2 
Broad Tumor PortalGABRR2
OASIS PortalGABRR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABRR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABRR2
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 GABRR2
DgiDB (Drug Gene Interaction Database)GABRR2
DoCM (Curated mutations)GABRR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABRR2 (select a term)
intoGenGABRR2
Cancer3DGABRR2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM137162   
Orphanet
DisGeNETGABRR2
MedgenGABRR2
Genetic Testing Registry GABRR2
NextProtP28476 [Medical]
TSGene2570
GENETestsGABRR2
Target ValidationGABRR2
Huge Navigator GABRR2 [HugePedia]
snp3D : Map Gene to Disease2570
BioCentury BCIQGABRR2
ClinGenGABRR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2570
Chemical/Pharm GKB GenePA28506
Clinical trialGABRR2
Miscellaneous
canSAR (ICR)GABRR2 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABRR2
EVEXGABRR2
GoPubMedGABRR2
iHOPGABRR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jun 22 16:26:39 CEST 2018

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