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SH3PXD2B (SH3 and PX domains 2B)

Identity

Alias_namesKIAA1295
KIAA1295
Alias_symbol (synonym)FLJ20831
Other aliasFAD49
FTHS
HOFI
TKS4
TSK4
HGNC (Hugo) SH3PXD2B
LocusID (NCBI) 285590
Atlas_Id 73211
Location 5q35.1  [Link to chromosome band 5q35]
Location_base_pair Starts at 171760503 and ends at 171881527 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
SH3PXD2B (5q35.1) / BCAR3 (1p22.1)STK10 (5q35.1) / SH3PXD2B (5q35.1)UBTD2 (5q35.1) / SH3PXD2B (5q35.1)
STK10 SH3PXD2BUBTD2 SH3PXD2B

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)SH3PXD2B   29242
Cards
Entrez_Gene (NCBI)SH3PXD2B  285590  SH3 and PX domains 2B
AliasesFAD49; FTHS; HOFI; KIAA1295; 
TKS4; TSK4
GeneCards (Weizmann)SH3PXD2B
Ensembl hg19 (Hinxton)ENSG00000174705 [Gene_View]  chr5:171760503-171881527 [Contig_View]  SH3PXD2B [Vega]
Ensembl hg38 (Hinxton)ENSG00000174705 [Gene_View]  chr5:171760503-171881527 [Contig_View]  SH3PXD2B [Vega]
ICGC DataPortalENSG00000174705
TCGA cBioPortalSH3PXD2B
AceView (NCBI)SH3PXD2B
Genatlas (Paris)SH3PXD2B
WikiGenes285590
SOURCE (Princeton)SH3PXD2B
Genetics Home Reference (NIH)SH3PXD2B
Genomic and cartography
GoldenPath hg19 (UCSC)SH3PXD2B  -     chr5:171760503-171881527 -  5q35.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SH3PXD2B  -     5q35.1   [Description]    (hg38-Dec_2013)
EnsemblSH3PXD2B - 5q35.1 [CytoView hg19]  SH3PXD2B - 5q35.1 [CytoView hg38]
Mapping of homologs : NCBISH3PXD2B [Mapview hg19]  SH3PXD2B [Mapview hg38]
OMIM249420   613293   
Gene and transcription
Genbank (Entrez)AB037716 AB430862 AK000838 AK095834 AK128871
RefSeq transcript (Entrez)NM_001017995 NM_001308175
RefSeq genomic (Entrez)NC_000005 NC_018916 NG_027746 NT_023133 NW_004929325
Consensus coding sequences : CCDS (NCBI)SH3PXD2B
Cluster EST : UnigeneHs.285666 [ NCBI ]
CGAP (NCI)Hs.285666
Alternative Splicing GalleryENSG00000174705
Gene ExpressionSH3PXD2B [ NCBI-GEO ]   SH3PXD2B [ EBI - ARRAY_EXPRESS ]   SH3PXD2B [ SEEK ]   SH3PXD2B [ MEM ]
Gene Expression Viewer (FireBrowse)SH3PXD2B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)285590
GTEX Portal (Tissue expression)SH3PXD2B
Protein : pattern, domain, 3D structure
UniProt/SwissProtA1X283   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA1X283  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA1X283
Splice isoforms : SwissVarA1X283
PhosPhoSitePlusA1X283
Domaine pattern : Prosite (Expaxy)PX (PS50195)    SH3 (PS50002)   
Domains : Interpro (EBI)Phox    SH3_2    SH3_domain    SH3PXD2B   
Domain families : Pfam (Sanger)PX (PF00787)    SH3_1 (PF00018)    SH3_2 (PF07653)   
Domain families : Pfam (NCBI)pfam00787    pfam00018    pfam07653   
Domain families : Smart (EMBL)PX (SM00312)  SH3 (SM00326)  
Conserved Domain (NCBI)SH3PXD2B
DMDM Disease mutations285590
Blocks (Seattle)SH3PXD2B
SuperfamilyA1X283
Human Protein AtlasENSG00000174705
Peptide AtlasA1X283
HPRD18591
IPIIPI00023832   IPI00020025   IPI00979452   IPI00977856   
Protein Interaction databases
DIP (DOE-UCLA)A1X283
IntAct (EBI)A1X283
FunCoupENSG00000174705
BioGRIDSH3PXD2B
STRING (EMBL)SH3PXD2B
ZODIACSH3PXD2B
Ontologies - Pathways
QuickGOA1X283
Ontology : AmiGOskeletal system development  eye development  podosome  protein binding  cytoplasm  superoxide metabolic process  heart development  phosphatidylinositol-5-phosphate binding  extracellular matrix disassembly  cell junction  cell differentiation  phosphatidylinositol-3-phosphate binding  SH2 domain binding  cell projection  positive regulation of fat cell differentiation  bone development  adipose tissue development  phosphatidylinositol-4-phosphate binding  podosome assembly  protein localization to membrane  phosphatidylinositol-3,5-bisphosphate binding  
Ontology : EGO-EBIskeletal system development  eye development  podosome  protein binding  cytoplasm  superoxide metabolic process  heart development  phosphatidylinositol-5-phosphate binding  extracellular matrix disassembly  cell junction  cell differentiation  phosphatidylinositol-3-phosphate binding  SH2 domain binding  cell projection  positive regulation of fat cell differentiation  bone development  adipose tissue development  phosphatidylinositol-4-phosphate binding  podosome assembly  protein localization to membrane  phosphatidylinositol-3,5-bisphosphate binding  
NDEx NetworkSH3PXD2B
Atlas of Cancer Signalling NetworkSH3PXD2B
Wikipedia pathwaysSH3PXD2B
Orthology - Evolution
OrthoDB285590
GeneTree (enSembl)ENSG00000174705
Phylogenetic Trees/Animal Genes : TreeFamSH3PXD2B
HOVERGENA1X283
HOGENOMA1X283
Homologs : HomoloGeneSH3PXD2B
Homology/Alignments : Family Browser (UCSC)SH3PXD2B
Gene fusions - Rearrangements
Fusion: TCGASTK10 SH3PXD2B
Fusion: TCGAUBTD2 SH3PXD2B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3PXD2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3PXD2B
dbVarSH3PXD2B
ClinVarSH3PXD2B
1000_GenomesSH3PXD2B 
Exome Variant ServerSH3PXD2B
ExAC (Exome Aggregation Consortium)SH3PXD2B (select the gene name)
Genetic variants : HAPMAP285590
Genomic Variants (DGV)SH3PXD2B [DGVbeta]
DECIPHER (Syndromes)5:171760503-171881527  ENSG00000174705
CONAN: Copy Number AnalysisSH3PXD2B 
Mutations
ICGC Data PortalSH3PXD2B 
TCGA Data PortalSH3PXD2B 
Broad Tumor PortalSH3PXD2B
OASIS PortalSH3PXD2B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSH3PXD2B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSH3PXD2B
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 SH3PXD2B
DgiDB (Drug Gene Interaction Database)SH3PXD2B
DoCM (Curated mutations)SH3PXD2B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SH3PXD2B (select a term)
intoGenSH3PXD2B
Cancer3DSH3PXD2B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM249420    613293   
Orphanet1504    16725   
MedgenSH3PXD2B
Genetic Testing Registry SH3PXD2B
NextProtA1X283 [Medical]
TSGene285590
GENETestsSH3PXD2B
Huge Navigator SH3PXD2B [HugePedia]
snp3D : Map Gene to Disease285590
BioCentury BCIQSH3PXD2B
ClinGenSH3PXD2B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD285590
Chemical/Pharm GKB GenePA134864119
Clinical trialSH3PXD2B
Miscellaneous
canSAR (ICR)SH3PXD2B (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSH3PXD2B
EVEXSH3PXD2B
GoPubMedSH3PXD2B
iHOPSH3PXD2B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:43:05 CET 2017

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