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GAB2 (GRB2-associated binding protein 2)

Identity

Other namesKIAA0571
HGNC (Hugo) GAB2
Location 11q14.1
Location_base_pair Starts at 77603990 and ends at 77730574 bp from pter ( according to hg18-March_2006)
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)GAB2   14458
Entrez_Gene (NCBI)GAB2  9846  GRB2-associated binding protein 2
Cards
GeneCards (Weizmann)GAB2
Ensembl (Hinxton)ENSG00000033327 [Gene_View]  GAB2 [Vega]
AceView (NCBI)GAB2
Genatlas (Paris)GAB2
euGene (Indiana)9846
SOURCE (Stanford)NM_012296 NM_080491
Gene Expression (Array Express) ENSG00000033327
Genomic and cartography
GoldenPath (UCSC)GAB2  -  11q14.1   chr11:77603990-77730574 -  11q14.1   [Description]    (hg18-March_2006)
EnsemblGAB2 - 11q14.1 [CytoView]
Mapping of homologs : NCBIGAB2 [Mapview]
OMIM606203   
Gene and transcription
Gene : Genbank (Entrez)AA865573 AB011143 AB018413 AI858080 BC131711
Reference sequence (RefSeq transcript) :SRSNM_012296 NM_080491
Reference transcript : EntrezNM_012296 NM_080491
RefSeq genomic : SRSAC_000054 AC_000143 NC_000011 NG_016171 NT_167190 NW_001838028 NW_925106
RefSeq genomic : EntrezAC_000054 AC_000143 NC_000011 NG_016171 NT_167190 NW_001838028 NW_925106
Consensus coding sequences : CCDS NCBIGAB2
Cluster EST : UnigeneHs.429434 [ SRS ] Hs.429434 [ NCBI ]
Alternative Splicing : Fast-db (Paris)12313
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ9UQC2 (SRS) Q9UQC2 (Expasy) Q9UQC2 (Uniprot)
With graphics : InterProQ9UQC2
Splice isoforms : VarSplice FASTAQ9UQC2(VarSplice FASTA)
Domaine pattern : Prosite (SRS)PH_DOMAIN (PS50003)   
Domain pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)   
Domains : Interpro (SRS)PH_type    Pleckstrin_homology   
Domains : Interpro (EBI)PH_type    Pleckstrin_homology   
Related proteins : CluSTrQ9UQC2
Domain families : Pfam SRSPH (PF00169)   
Domain families : Pfam SangerPH (PF00169)   
Domain families : Pfam NCBIpfam00169   
Domain families : Smart EMBLPH (SM00233)  
Blocks (Seattle)Q9UQC2
Crystal structure of protein : PDB SRS2VWF    2W0Z   
Crystal structure of protein : PDBSum2VWF    2W0Z   
Crystal structure of protein : IMB2VWF    2W0Z   
Crystal structure of protein : PDB RSDB2VWF    2W0Z   
HPRD05866
Protein Interaction databases
DIP (DOE-UCLA)Q9UQC2
IntAct (EBI)Q9UQC2
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIGAB2
SNP : GeneSNP UtahGAB2
SNP : HGBaseGAB2
Genetic variants : HAPMAPGAB2
Somatic Mutations in Cancer : COSMICGAB2 
Mutations and Diseases : HGMDGAB2
Hereditary diseases : OMIM606203   
Hereditary diseases : GENETests606203   
Diseases : Genetic AssociationGAB2
General knowledge
Homologs : HomoloGeneGAB2
Homology/Alignments : Family Browser UCSCGAB2
Phylogenetic Trees/Animal Genes : TreeFamGAB2
Chemical/Protein Interactions : CTD9846
Keywords Ontology : AmiGOtransmembrane receptor protein tyrosine kinase adaptor protein activity  SH3/SH2 adaptor activity  protein binding  phosphatidylinositol-3,4,5-trisphosphate binding  cytoplasm  plasma membrane  positive regulation of cell proliferation  osteoclast differentiation  positive regulation of mast cell degranulation  phosphatidylinositol-3,4-bisphosphate binding  phosphoinositide-mediated signaling  
Keywords Ontology : EGO-EBItransmembrane receptor protein tyrosine kinase adaptor protein activity  SH3/SH2 adaptor activity  protein binding  phosphatidylinositol-3,4,5-trisphosphate binding  cytoplasm  plasma membrane  positive regulation of cell proliferation  osteoclast differentiation  positive regulation of mast cell degranulation  phosphatidylinositol-3,4-bisphosphate binding  phosphoinositide-mediated signaling  
Pathways : BIOCARTA
Pathways : KEGGFc epsilon RI signaling pathway
Other databases
Probes
Probes : ImagenesGAB2 Related clones (RZPD - Berlin)
Literature
PubMed62 Pubmed reference(s) in Entrez
PubGeneGAB2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated03-2009Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Feb 27 10:36:40 CET 2010

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