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SH3BP5 (SH3 domain binding protein 5)

Identity

Alias_namesSH3-domain binding protein 5 (BTK-associated)
Alias_symbol (synonym)Sab
Other aliasSAB
SH3BP-5
HGNC (Hugo) SH3BP5
LocusID (NCBI) 9467
Atlas_Id 53619
Location 3p25.1  [Link to chromosome band 3p25]
Location_base_pair Starts at 15254356 and ends at 15332586 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)
SH3BP5 (3p25.1) / HEATR6 (17q23.1)SH3BP5 (3p25.1) / METTL6 (3p25.1)SH3BP5 (3p25.1) / SLCO1A2 (12p12.1)
USP10 (16q24.1) / SH3BP5 (3p25.1)VGLL4 (3p25.3) / SH3BP5 (3p25.1)SH3BP5 3p25.1 / HEATR6 17q23.1
SH3BP5 3p25.1 / METTL6 3p25.1VGLL4 3p25.3 / SH3BP5 3p25.1

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 ]
  SH3BP5/METTL6 (3p25)
VGLL4/SH3BP5 (3p25)
t(3;17)(p25;q23) SH3BP5/HEATR6


External links

Nomenclature
HGNC (Hugo)SH3BP5   10827
Cards
Entrez_Gene (NCBI)SH3BP5  9467  SH3 domain binding protein 5
AliasesSAB; SH3BP-5
GeneCards (Weizmann)SH3BP5
Ensembl hg19 (Hinxton)ENSG00000131370 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131370 [Gene_View]  ENSG00000131370 [Sequence]  chr3:15254356-15332586 [Contig_View]  SH3BP5 [Vega]
ICGC DataPortalENSG00000131370
TCGA cBioPortalSH3BP5
AceView (NCBI)SH3BP5
Genatlas (Paris)SH3BP5
WikiGenes9467
SOURCE (Princeton)SH3BP5
Genetics Home Reference (NIH)SH3BP5
Genomic and cartography
GoldenPath hg38 (UCSC)SH3BP5  -     chr3:15254356-15332586 -  3p25.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SH3BP5  -     3p25.1   [Description]    (hg19-Feb_2009)
GoldenPathSH3BP5 - 3p25.1 [CytoView hg19]  SH3BP5 - 3p25.1 [CytoView hg38]
Genome Data Viewer NCBISH3BP5 [Mapview hg19]  
OMIM605612   
Gene and transcription
Genbank (Entrez)AA843106 AB005047 AK090524 AK313167 AL117422
RefSeq transcript (Entrez)NM_001018009 NM_004844
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SH3BP5
Alternative Splicing GalleryENSG00000131370
Gene ExpressionSH3BP5 [ NCBI-GEO ]   SH3BP5 [ EBI - ARRAY_EXPRESS ]   SH3BP5 [ SEEK ]   SH3BP5 [ MEM ]
Gene Expression Viewer (FireBrowse)SH3BP5 [ Firebrowse - Broad ]
GenevisibleExpression of SH3BP5 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9467
GTEX Portal (Tissue expression)SH3BP5
Human Protein AtlasENSG00000131370-SH3BP5 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60239   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60239  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60239
Splice isoforms : SwissVarO60239
PhosPhoSitePlusO60239
Domains : Interpro (EBI)SH3BP5   
Domain families : Pfam (Sanger)SH3BP5 (PF05276)   
Domain families : Pfam (NCBI)pfam05276   
Conserved Domain (NCBI)SH3BP5
DMDM Disease mutations9467
PDB (RSDB)4H3B    6DJL    6IXE    6IXF    6IXG    6IXV   
PDB Europe4H3B    6DJL    6IXE    6IXF    6IXG    6IXV   
PDB (PDBSum)4H3B    6DJL    6IXE    6IXF    6IXG    6IXV   
PDB (IMB)4H3B    6DJL    6IXE    6IXF    6IXG    6IXV   
Structural Biology KnowledgeBase4H3B    6DJL    6IXE    6IXF    6IXG    6IXV   
SCOP (Structural Classification of Proteins)4H3B    6DJL    6IXE    6IXF    6IXG    6IXV   
CATH (Classification of proteins structures)4H3B    6DJL    6IXE    6IXF    6IXG    6IXV   
SuperfamilyO60239
Human Protein Atlas [tissue]ENSG00000131370-SH3BP5 [tissue]
Peptide AtlasO60239
HPRD12030
IPIIPI00744182   IPI00914942   IPI00926668   IPI00927088   IPI00926488   IPI00925883   
Protein Interaction databases
DIP (DOE-UCLA)O60239
IntAct (EBI)O60239
FunCoupENSG00000131370
BioGRIDSH3BP5
STRING (EMBL)SH3BP5
ZODIACSH3BP5
Ontologies - Pathways
QuickGOO60239
Ontology : AmiGOprotein kinase inhibitor activity  protein kinase inhibitor activity  protein binding  nucleoplasm  cytoplasm  mitochondrion  signal transduction  nuclear body  Rab guanyl-nucleotide exchange factor activity  SH3 domain binding  cytoplasmic vesicle membrane  intracellular signal transduction  intracellular signal transduction  negative regulation of protein tyrosine kinase activity  
Ontology : EGO-EBIprotein kinase inhibitor activity  protein kinase inhibitor activity  protein binding  nucleoplasm  cytoplasm  mitochondrion  signal transduction  nuclear body  Rab guanyl-nucleotide exchange factor activity  SH3 domain binding  cytoplasmic vesicle membrane  intracellular signal transduction  intracellular signal transduction  negative regulation of protein tyrosine kinase activity  
NDEx NetworkSH3BP5
Atlas of Cancer Signalling NetworkSH3BP5
Wikipedia pathwaysSH3BP5
Orthology - Evolution
OrthoDB9467
GeneTree (enSembl)ENSG00000131370
Phylogenetic Trees/Animal Genes : TreeFamSH3BP5
HOGENOMO60239
Homologs : HomoloGeneSH3BP5
Homology/Alignments : Family Browser (UCSC)SH3BP5
Gene fusions - Rearrangements
Fusion : MitelmanSH3BP5/HEATR6 [3p25.1/17q23.1]  
Fusion : MitelmanSH3BP5/METTL6 [3p25.1/3p25.1]  
Fusion : MitelmanVGLL4/SH3BP5 [3p25.3/3p25.1]  
Fusion PortalSH3BP5 3p25.1 HEATR6 17q23.1 BRCA
Fusion PortalSH3BP5 3p25.1 METTL6 3p25.1 BRCA OV
Fusion PortalVGLL4 3p25.3 SH3BP5 3p25.1 BRCA
Fusion : QuiverSH3BP5
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3BP5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3BP5
dbVarSH3BP5
ClinVarSH3BP5
1000_GenomesSH3BP5 
Exome Variant ServerSH3BP5
GNOMAD BrowserENSG00000131370
Varsome BrowserSH3BP5
Genetic variants : HAPMAP9467
Genomic Variants (DGV)SH3BP5 [DGVbeta]
DECIPHERSH3BP5 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSH3BP5 
Mutations
ICGC Data PortalSH3BP5 
TCGA Data PortalSH3BP5 
Broad Tumor PortalSH3BP5
OASIS PortalSH3BP5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH3BP5  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSH3BP5
Mutations and Diseases : HGMDSH3BP5
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
BioMutaselect SH3BP5
DgiDB (Drug Gene Interaction Database)SH3BP5
DoCM (Curated mutations)SH3BP5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH3BP5 (select a term)
intoGenSH3BP5
Cancer3DSH3BP5 (select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605612   
Orphanet
DisGeNETSH3BP5
MedgenSH3BP5
Genetic Testing Registry SH3BP5
NextProtO60239 [Medical]
TSGene9467
GENETestsSH3BP5
Open Targets GeneticsENSG00000131370  [validation]
snp3D : Map Gene to Disease9467
BioCentury BCIQSH3BP5
ClinGenSH3BP5
Clinical trials, drugs, therapy
Protein Interactions : CTD9467
Pharm GKB GenePA35735
Clinical trialSH3BP5
Miscellaneous
canSAR (ICR)SH3BP5 (select the gene name)
HarmonizomeSH3BP5
DataMed IndexSH3BP5
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH3BP5
EVEXSH3BP5
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 : Sat Jul 11 20:11:12 CEST 2020

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