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SH3BP2 (SH3-domain binding protein 2)

Identity

Alias_namesCherubism
Alias_symbol (synonym)RES4-23
CRBM
HGNC (Hugo) SH3BP2
LocusID (NCBI) 6452
Atlas_Id 42283
Location 4p16.3  [Link to chromosome band 4p16]
Location_base_pair Starts at 2794750 and ends at 2842823 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ADD1 (4p16.3) / SH3BP2 (4p16.3)SH3BP2 (4p16.3) / ADD1 (4p16.3)SH3BP2 (4p16.3) / SH3BP2 (4p16.3)
THRAP3 (1p34.3) / SH3BP2 (4p16.3)ADD1 4p16.3 / SH3BP2 4p16.3

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)SH3BP2   10825
Cards
Entrez_Gene (NCBI)SH3BP2  6452  SH3-domain binding protein 2
Aliases3BP-2; 3BP2; CRBM; CRPM; 
RES4-23
GeneCards (Weizmann)SH3BP2
Ensembl hg19 (Hinxton)ENSG00000087266 [Gene_View]  chr4:2794750-2842823 [Contig_View]  SH3BP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000087266 [Gene_View]  chr4:2794750-2842823 [Contig_View]  SH3BP2 [Vega]
ICGC DataPortalENSG00000087266
TCGA cBioPortalSH3BP2
AceView (NCBI)SH3BP2
Genatlas (Paris)SH3BP2
WikiGenes6452
SOURCE (Princeton)SH3BP2
Genetics Home Reference (NIH)SH3BP2
Genomic and cartography
GoldenPath hg19 (UCSC)SH3BP2  -     chr4:2794750-2842823 +  4p16.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SH3BP2  -     4p16.3   [Description]    (hg38-Dec_2013)
EnsemblSH3BP2 - 4p16.3 [CytoView hg19]  SH3BP2 - 4p16.3 [CytoView hg38]
Mapping of homologs : NCBISH3BP2 [Mapview hg19]  SH3BP2 [Mapview hg38]
OMIM118400   602104   
Gene and transcription
Genbank (Entrez)AB000462 AB000463 AF000936 AK124073 AK126537
RefSeq transcript (Entrez)NM_001122681 NM_001145855 NM_001145856 NM_003023
RefSeq genomic (Entrez)NC_000004 NC_018915 NG_011609 NT_006051 NW_004929314
Consensus coding sequences : CCDS (NCBI)SH3BP2
Cluster EST : UnigeneHs.167679 [ NCBI ]
CGAP (NCI)Hs.167679
Alternative Splicing GalleryENSG00000087266
Gene ExpressionSH3BP2 [ NCBI-GEO ]   SH3BP2 [ EBI - ARRAY_EXPRESS ]   SH3BP2 [ SEEK ]   SH3BP2 [ MEM ]
Gene Expression Viewer (FireBrowse)SH3BP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6452
GTEX Portal (Tissue expression)SH3BP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP78314   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP78314  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP78314
Splice isoforms : SwissVarP78314
PhosPhoSitePlusP78314
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    SH2 (PS50001)   
Domains : Interpro (EBI)PH_dom-like    PH_domain    SH2   
Domain families : Pfam (Sanger)PH (PF00169)    SH2 (PF00017)   
Domain families : Pfam (NCBI)pfam00169    pfam00017   
Domain families : Smart (EMBL)PH (SM00233)  SH2 (SM00252)  
Conserved Domain (NCBI)SH3BP2
DMDM Disease mutations6452
Blocks (Seattle)SH3BP2
PDB (SRS)2CR4    3TWR   
PDB (PDBSum)2CR4    3TWR   
PDB (IMB)2CR4    3TWR   
PDB (RSDB)2CR4    3TWR   
Structural Biology KnowledgeBase2CR4    3TWR   
SCOP (Structural Classification of Proteins)2CR4    3TWR   
CATH (Classification of proteins structures)2CR4    3TWR   
SuperfamilyP78314
Human Protein AtlasENSG00000087266
Peptide AtlasP78314
HPRD03657
IPIIPI00219071   IPI00218997   IPI00922541   IPI00446438   IPI00926189   IPI00927717   IPI00964397   IPI00964137   IPI00965372   IPI00965585   IPI00963865   IPI00967096   
Protein Interaction databases
DIP (DOE-UCLA)P78314
IntAct (EBI)P78314
FunCoupENSG00000087266
BioGRIDSH3BP2
STRING (EMBL)SH3BP2
ZODIACSH3BP2
Ontologies - Pathways
QuickGOP78314
Ontology : AmiGOSH3/SH2 adaptor activity  protein binding  signal transduction  positive regulation of signal transduction  SH3 domain binding  
Ontology : EGO-EBISH3/SH2 adaptor activity  protein binding  signal transduction  positive regulation of signal transduction  SH3 domain binding  
Pathways : KEGGNatural killer cell mediated cytotoxicity   
NDEx NetworkSH3BP2
Atlas of Cancer Signalling NetworkSH3BP2
Wikipedia pathwaysSH3BP2
Orthology - Evolution
OrthoDB6452
GeneTree (enSembl)ENSG00000087266
Phylogenetic Trees/Animal Genes : TreeFamSH3BP2
HOVERGENP78314
HOGENOMP78314
Homologs : HomoloGeneSH3BP2
Homology/Alignments : Family Browser (UCSC)SH3BP2
Gene fusions - Rearrangements
Fusion : MitelmanADD1/SH3BP2 [4p16.3/4p16.3]  [t(4;4)(p16;p16)]  
Fusion : MitelmanTHRAP3/SH3BP2 [1p34.3/4p16.3]  [t(1;4)(p34;p16)]  
Fusion: TCGAADD1 4p16.3 SH3BP2 4p16.3 BRCA OV
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3BP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3BP2
dbVarSH3BP2
ClinVarSH3BP2
1000_GenomesSH3BP2 
Exome Variant ServerSH3BP2
ExAC (Exome Aggregation Consortium)SH3BP2 (select the gene name)
Genetic variants : HAPMAP6452
Genomic Variants (DGV)SH3BP2 [DGVbeta]
DECIPHER (Syndromes)4:2794750-2842823  ENSG00000087266
CONAN: Copy Number AnalysisSH3BP2 
Mutations
ICGC Data PortalSH3BP2 
TCGA Data PortalSH3BP2 
Broad Tumor PortalSH3BP2
OASIS PortalSH3BP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH3BP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH3BP2
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 SH3BP2
DgiDB (Drug Gene Interaction Database)SH3BP2
DoCM (Curated mutations)SH3BP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH3BP2 (select a term)
intoGenSH3BP2
Cancer3DSH3BP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118400    602104   
Orphanet996   
MedgenSH3BP2
Genetic Testing Registry SH3BP2
NextProtP78314 [Medical]
TSGene6452
GENETestsSH3BP2
Huge Navigator SH3BP2 [HugePedia]
snp3D : Map Gene to Disease6452
BioCentury BCIQSH3BP2
ClinGenSH3BP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6452
Chemical/Pharm GKB GenePA35733
Clinical trialSH3BP2
Miscellaneous
canSAR (ICR)SH3BP2 (select the gene name)
Probes
Litterature
PubMed58 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH3BP2
EVEXSH3BP2
GoPubMedSH3BP2
iHOPSH3BP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Nov 18 19:51:15 CET 2016

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