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SH3BP4 (SH3 domain binding protein 4)

Identity

Other aliasBOG25
TTP
HGNC (Hugo) SH3BP4
LocusID (NCBI) 23677
Atlas_Id 56097
Location 2q37.2  [Link to chromosome band 2q37]
Location_base_pair Starts at 235860628 and ends at 235964358 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACBD5 (10p12.1) / SH3BP4 (2q37.2)SH3BP4 (2q37.2) / SH3BP4 (2q37.2)SH3BP4 (2q37.2) / SRSF1 (17q22)

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)SH3BP4   10826
Cards
Entrez_Gene (NCBI)SH3BP4  23677  SH3 domain binding protein 4
AliasesBOG25; TTP
GeneCards (Weizmann)SH3BP4
Ensembl hg19 (Hinxton)ENSG00000130147 [Gene_View]  chr2:235860628-235964358 [Contig_View]  SH3BP4 [Vega]
Ensembl hg38 (Hinxton)ENSG00000130147 [Gene_View]  chr2:235860628-235964358 [Contig_View]  SH3BP4 [Vega]
ICGC DataPortalENSG00000130147
TCGA cBioPortalSH3BP4
AceView (NCBI)SH3BP4
Genatlas (Paris)SH3BP4
WikiGenes23677
SOURCE (Princeton)SH3BP4
Genetics Home Reference (NIH)SH3BP4
Genomic and cartography
GoldenPath hg19 (UCSC)SH3BP4  -     chr2:235860628-235964358 +  2q37.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SH3BP4  -     2q37.2   [Description]    (hg38-Dec_2013)
EnsemblSH3BP4 - 2q37.2 [CytoView hg19]  SH3BP4 - 2q37.2 [CytoView hg38]
Mapping of homologs : NCBISH3BP4 [Mapview hg19]  SH3BP4 [Mapview hg38]
OMIM605611   
Gene and transcription
Genbank (Entrez)-
RefSeq transcript (Entrez)NM_014521
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SH3BP4
Cluster EST : UnigeneHs.516777 [ NCBI ]
CGAP (NCI)Hs.516777
Alternative Splicing GalleryENSG00000130147
Gene ExpressionSH3BP4 [ NCBI-GEO ]   SH3BP4 [ EBI - ARRAY_EXPRESS ]   SH3BP4 [ SEEK ]   SH3BP4 [ MEM ]
Gene Expression Viewer (FireBrowse)SH3BP4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23677
GTEX Portal (Tissue expression)SH3BP4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9P0V3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9P0V3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9P0V3
Splice isoforms : SwissVarQ9P0V3
PhosPhoSitePlusQ9P0V3
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)SH3_2    SH3_domain    ZU5_dom   
Domain families : Pfam (Sanger)SH3_2 (PF07653)    SH3_9 (PF14604)    ZU5 (PF00791)   
Domain families : Pfam (NCBI)pfam07653    pfam14604    pfam00791   
Domain families : Smart (EMBL)SH3 (SM00326)  
Conserved Domain (NCBI)SH3BP4
DMDM Disease mutations23677
Blocks (Seattle)SH3BP4
SuperfamilyQ9P0V3
Human Protein AtlasENSG00000130147
Peptide AtlasQ9P0V3
HPRD09285
IPIIPI00005030   IPI00383564   IPI01016051   IPI00952831   IPI00917570   IPI00916309   IPI00916103   
Protein Interaction databases
DIP (DOE-UCLA)Q9P0V3
IntAct (EBI)Q9P0V3
FunCoupENSG00000130147
BioGRIDSH3BP4
STRING (EMBL)SH3BP4
ZODIACSH3BP4
Ontologies - Pathways
QuickGOQ9P0V3
Ontology : AmiGOGDP-dissociation inhibitor activity  protein binding  nucleus  cytoplasm  clathrin-coated pit  endocytosis  negative regulation of cell proliferation  positive regulation of autophagy  Ras GTPase binding  clathrin-coated vesicle  negative regulation of cell growth  negative regulation of TOR signaling  negative regulation of GTPase activity  amino acid import  regulation of catalytic activity  protein localization to lysosome  extracellular exosome  cellular response to amino acid stimulus  
Ontology : EGO-EBIGDP-dissociation inhibitor activity  protein binding  nucleus  cytoplasm  clathrin-coated pit  endocytosis  negative regulation of cell proliferation  positive regulation of autophagy  Ras GTPase binding  clathrin-coated vesicle  negative regulation of cell growth  negative regulation of TOR signaling  negative regulation of GTPase activity  amino acid import  regulation of catalytic activity  protein localization to lysosome  extracellular exosome  cellular response to amino acid stimulus  
NDEx NetworkSH3BP4
Atlas of Cancer Signalling NetworkSH3BP4
Wikipedia pathwaysSH3BP4
Orthology - Evolution
OrthoDB23677
GeneTree (enSembl)ENSG00000130147
Phylogenetic Trees/Animal Genes : TreeFamSH3BP4
HOVERGENQ9P0V3
HOGENOMQ9P0V3
Homologs : HomoloGeneSH3BP4
Homology/Alignments : Family Browser (UCSC)SH3BP4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3BP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3BP4
dbVarSH3BP4
ClinVarSH3BP4
1000_GenomesSH3BP4 
Exome Variant ServerSH3BP4
ExAC (Exome Aggregation Consortium)SH3BP4 (select the gene name)
Genetic variants : HAPMAP23677
Genomic Variants (DGV)SH3BP4 [DGVbeta]
DECIPHER (Syndromes)2:235860628-235964358  ENSG00000130147
CONAN: Copy Number AnalysisSH3BP4 
Mutations
ICGC Data PortalSH3BP4 
TCGA Data PortalSH3BP4 
Broad Tumor PortalSH3BP4
OASIS PortalSH3BP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH3BP4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH3BP4
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 SH3BP4
DgiDB (Drug Gene Interaction Database)SH3BP4
DoCM (Curated mutations)SH3BP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH3BP4 (select a term)
intoGenSH3BP4
Cancer3DSH3BP4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605611   
Orphanet
MedgenSH3BP4
Genetic Testing Registry SH3BP4
NextProtQ9P0V3 [Medical]
TSGene23677
GENETestsSH3BP4
Huge Navigator SH3BP4 [HugePedia]
snp3D : Map Gene to Disease23677
BioCentury BCIQSH3BP4
ClinGenSH3BP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23677
Chemical/Pharm GKB GenePA35734
Clinical trialSH3BP4
Miscellaneous
canSAR (ICR)SH3BP4 (select the gene name)
Probes
Litterature
PubMed23 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH3BP4
EVEXSH3BP4
GoPubMedSH3BP4
iHOPSH3BP4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 15:19:10 CEST 2017

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