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GABBR2 (gamma-aminobutyric acid type B receptor subunit 2)

Identity

Alias_namesGPR51
G protein-coupled receptor 51
gamma-aminobutyric acid (GABA) B receptor, 2
Alias_symbol (synonym)HG20
GABABR2
GPRC3B
Other aliasHRIHFB2099
HGNC (Hugo) GABBR2
LocusID (NCBI) 9568
Atlas_Id 53004
Location 9q22.33  [Link to chromosome band 9q22]
Location_base_pair Starts at 98288082 and ends at 98709197 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
GABBR2 (9q22.33) / AGT (1q42.2)GABBR2 (9q22.33) / GABBR2 (9q22.33)GABBR2 (9q22.33) / UBE2H (7q32.2)
NOTCH1 (9q34.3) / GABBR2 (9q22.33)NOTCH1 9q34.3 / GABBR2 9q22.33

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)GABBR2   4507
Cards
Entrez_Gene (NCBI)GABBR2  9568  gamma-aminobutyric acid type B receptor subunit 2
AliasesGABABR2; GPR51; GPRC3B; HG20; 
HRIHFB2099
GeneCards (Weizmann)GABBR2
Ensembl hg19 (Hinxton)ENSG00000136928 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136928 [Gene_View]  chr9:98288082-98709197 [Contig_View]  GABBR2 [Vega]
ICGC DataPortalENSG00000136928
TCGA cBioPortalGABBR2
AceView (NCBI)GABBR2
Genatlas (Paris)GABBR2
WikiGenes9568
SOURCE (Princeton)GABBR2
Genetics Home Reference (NIH)GABBR2
Genomic and cartography
GoldenPath hg38 (UCSC)GABBR2  -     chr9:98288082-98709197 -  9q22.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GABBR2  -     9q22.33   [Description]    (hg19-Feb_2009)
EnsemblGABBR2 - 9q22.33 [CytoView hg19]  GABBR2 - 9q22.33 [CytoView hg38]
Mapping of homologs : NCBIGABBR2 [Mapview hg19]  GABBR2 [Mapview hg38]
OMIM188890   607340   
Gene and transcription
Genbank (Entrez)AB015334 AF056085 AF069755 AF074483 AF095784
RefSeq transcript (Entrez)NM_005458
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GABBR2
Cluster EST : UnigeneHs.198612 [ NCBI ]
CGAP (NCI)Hs.198612
Alternative Splicing GalleryENSG00000136928
Gene ExpressionGABBR2 [ NCBI-GEO ]   GABBR2 [ EBI - ARRAY_EXPRESS ]   GABBR2 [ SEEK ]   GABBR2 [ MEM ]
Gene Expression Viewer (FireBrowse)GABBR2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9568
GTEX Portal (Tissue expression)GABBR2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75899   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75899  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75899
Splice isoforms : SwissVarO75899
PhosPhoSitePlusO75899
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F3_3 (PS00981)    G_PROTEIN_RECEP_F3_4 (PS50259)   
Domains : Interpro (EBI)ANF_lig-bd_rcpt    GPCR3_GABA-B    GPCR_3    GPCR_3_C    GPCR_3_CS    GPCR_3_GABA_rcpt_B2    Peripla_BP_I   
Domain families : Pfam (Sanger)7tm_3 (PF00003)    ANF_receptor (PF01094)   
Domain families : Pfam (NCBI)pfam00003    pfam01094   
Conserved Domain (NCBI)GABBR2
DMDM Disease mutations9568
Blocks (Seattle)GABBR2
PDB (SRS)4F11    4F12    4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
PDB (PDBSum)4F11    4F12    4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
PDB (IMB)4F11    4F12    4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
PDB (RSDB)4F11    4F12    4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
Structural Biology KnowledgeBase4F11    4F12    4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
SCOP (Structural Classification of Proteins)4F11    4F12    4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
CATH (Classification of proteins structures)4F11    4F12    4MQE    4MQF    4MR7    4MR8    4MR9    4MRM    4MS1    4MS3    4MS4    4PAS   
SuperfamilyO75899
Human Protein AtlasENSG00000136928
Peptide AtlasO75899
HPRD09552
IPIIPI00027250   IPI00386501   
Protein Interaction databases
DIP (DOE-UCLA)O75899
IntAct (EBI)O75899
FunCoupENSG00000136928
BioGRIDGABBR2
STRING (EMBL)GABBR2
ZODIACGABBR2
Ontologies - Pathways
QuickGOO75899
Ontology : AmiGOG-protein coupled GABA receptor activity  protein binding  cytoplasm  plasma membrane  integral component of plasma membrane  G-protein coupled receptor signaling pathway  negative regulation of adenylate cyclase activity  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  cell junction  G-protein coupled receptor heterodimeric complex  neuron projection  postsynaptic membrane  protein heterodimerization activity  GABA receptor complex  
Ontology : EGO-EBIG-protein coupled GABA receptor activity  protein binding  cytoplasm  plasma membrane  integral component of plasma membrane  G-protein coupled receptor signaling pathway  negative regulation of adenylate cyclase activity  gamma-aminobutyric acid signaling pathway  chemical synaptic transmission  cell junction  G-protein coupled receptor heterodimeric complex  neuron projection  postsynaptic membrane  protein heterodimerization activity  GABA receptor complex  
Pathways : KEGGNeuroactive ligand-receptor interaction    GABAergic synapse    Estrogen signaling pathway    Morphine addiction   
NDEx NetworkGABBR2
Atlas of Cancer Signalling NetworkGABBR2
Wikipedia pathwaysGABBR2
Orthology - Evolution
OrthoDB9568
GeneTree (enSembl)ENSG00000136928
Phylogenetic Trees/Animal Genes : TreeFamGABBR2
HOVERGENO75899
HOGENOMO75899
Homologs : HomoloGeneGABBR2
Homology/Alignments : Family Browser (UCSC)GABBR2
Gene fusions - Rearrangements
Fusion : MitelmanNOTCH1/GABBR2 [9q34.3/9q22.33]  [t(9;9)(q22;q34)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGABBR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GABBR2
dbVarGABBR2
ClinVarGABBR2
1000_GenomesGABBR2 
Exome Variant ServerGABBR2
ExAC (Exome Aggregation Consortium)GABBR2 (select the gene name)
Genetic variants : HAPMAP9568
Genomic Variants (DGV)GABBR2 [DGVbeta]
DECIPHERGABBR2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGABBR2 
Mutations
ICGC Data PortalGABBR2 
TCGA Data PortalGABBR2 
Broad Tumor PortalGABBR2
OASIS PortalGABBR2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGABBR2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGABBR2
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 GABBR2
DgiDB (Drug Gene Interaction Database)GABBR2
DoCM (Curated mutations)GABBR2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GABBR2 (select a term)
intoGenGABBR2
Cancer3DGABBR2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM188890    607340   
Orphanet
MedgenGABBR2
Genetic Testing Registry GABBR2
NextProtO75899 [Medical]
TSGene9568
GENETestsGABBR2
Huge Navigator GABBR2 [HugePedia]
snp3D : Map Gene to Disease9568
BioCentury BCIQGABBR2
ClinGenGABBR2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9568
Chemical/Pharm GKB GenePA28896
Clinical trialGABBR2
Miscellaneous
canSAR (ICR)GABBR2 (select the gene name)
Probes
Litterature
PubMed60 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGABBR2
EVEXGABBR2
GoPubMedGABBR2
iHOPGABBR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:16:42 CEST 2017

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