Atlas of Genetics and Cytogenetics in Oncology and Haematology


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SH3PXD2B (SH3 and PX domains 2B)

Identity

Alias (NCBI)FAD49
FTHS
HOFI
KIAA1295
TKS4
TSK4
HGNC (Hugo) SH3PXD2B
HGNC Alias symbFLJ20831
HGNC Previous nameKIAA1295
HGNC Previous nameKIAA1295
LocusID (NCBI) 285590
Atlas_Id 57400
Location 5q35.1  [Link to chromosome band 5q35]
Location_base_pair Starts at 172325181 and ends at 172454523 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)
SH3PXD2B (5q35.1) / BCAR3 (1p22.1)STK10 (5q35.1) / SH3PXD2B (5q35.1)UBTD2 (5q35.1) / SH3PXD2B (5q35.1)

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

 



External links

 

Nomenclature
HGNC (Hugo)SH3PXD2B   29242
Cards
Entrez_Gene (NCBI)SH3PXD2B    SH3 and PX domains 2B
AliasesFAD49; FTHS; HOFI; KIAA1295; 
TKS4; TSK4
GeneCards (Weizmann)SH3PXD2B
Ensembl hg19 (Hinxton)ENSG00000174705 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000174705 [Gene_View]  ENSG00000174705 [Sequence]  chr5:172325181-172454523 [Contig_View]  SH3PXD2B [Vega]
ICGC DataPortalENSG00000174705
TCGA cBioPortalSH3PXD2B
AceView (NCBI)SH3PXD2B
Genatlas (Paris)SH3PXD2B
SOURCE (Princeton)SH3PXD2B
Genetics Home Reference (NIH)SH3PXD2B
Genomic and cartography
GoldenPath hg38 (UCSC)SH3PXD2B  -     chr5:172325181-172454523 -  5q35.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SH3PXD2B  -     5q35.1   [Description]    (hg19-Feb_2009)
GoldenPathSH3PXD2B - 5q35.1 [CytoView hg19]  SH3PXD2B - 5q35.1 [CytoView hg38]
ImmunoBaseENSG00000174705
Genome Data Viewer NCBISH3PXD2B [Mapview hg19]  
OMIM249420   613293   
Gene and transcription
Genbank (Entrez)AB037716 AB430862 AK000838 AK095834 AK128871
RefSeq transcript (Entrez)NM_001017995 NM_001308175
Consensus coding sequences : CCDS (NCBI)SH3PXD2B
Gene ExpressionSH3PXD2B [ NCBI-GEO ]   SH3PXD2B [ EBI - ARRAY_EXPRESS ]   SH3PXD2B [ SEEK ]   SH3PXD2B [ MEM ]
Gene Expression Viewer (FireBrowse)SH3PXD2B [ Firebrowse - Broad ]
GenevisibleExpression of SH3PXD2B in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)285590
GTEX Portal (Tissue expression)SH3PXD2B
Human Protein AtlasENSG00000174705-SH3PXD2B [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusA1X283
Domaine pattern : Prosite (Expaxy)PX (PS50195)    SH3 (PS50002)   
Domains : Interpro (EBI)PX_dom    PX_dom_sf    SH3-like_dom_sf    SH3_domain    SH3PXD2_PX    SH3PXD2B    SH3PXD2B_SH3_1    SH3PXD2B_SH3_2    SH3PXD2B_SH3_3    SH3PXD2B_SH3_4   
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
SuperfamilyA1X283
AlphaFold pdb e-kbA1X283   
Human Protein Atlas [tissue]ENSG00000174705-SH3PXD2B [tissue]
Protein Interaction databases
DIP (DOE-UCLA)A1X283
IntAct (EBI)A1X283
BioGRIDSH3PXD2B
STRING (EMBL)SH3PXD2B
ZODIACSH3PXD2B
Ontologies - Pathways
QuickGOA1X283
Ontology : AmiGOskeletal system development  eye development  podosome  protein binding  cytoplasm  cytoplasm  superoxide metabolic process  superoxide metabolic process  heart development  phosphatidylinositol-5-phosphate binding  superoxide-generating NADPH oxidase activator activity  extracellular matrix disassembly  cell junction  cell differentiation  phosphatidylinositol-3-phosphate binding  SH2 domain binding  cell projection  molecular adaptor activity  bone development  adipose tissue development  podosome assembly  protein localization to membrane  phosphatidylinositol-3,5-bisphosphate binding  
Ontology : EGO-EBIskeletal system development  eye development  podosome  protein binding  cytoplasm  cytoplasm  superoxide metabolic process  superoxide metabolic process  heart development  phosphatidylinositol-5-phosphate binding  superoxide-generating NADPH oxidase activator activity  extracellular matrix disassembly  cell junction  cell differentiation  phosphatidylinositol-3-phosphate binding  SH2 domain binding  cell projection  molecular adaptor activity  bone development  adipose tissue development  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
Homologs : HomoloGeneSH3PXD2B
Homology/Alignments : Family Browser (UCSC)SH3PXD2B
Gene fusions - Rearrangements
Fusion : QuiverSH3PXD2B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSH3PXD2B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SH3PXD2B
dbVarSH3PXD2B
ClinVarSH3PXD2B
MonarchSH3PXD2B
1000_GenomesSH3PXD2B 
Exome Variant ServerSH3PXD2B
GNOMAD BrowserENSG00000174705
Varsome BrowserSH3PXD2B
ACMGSH3PXD2B variants
VarityA1X283
Genomic Variants (DGV)SH3PXD2B [DGVbeta]
DECIPHERSH3PXD2B [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DSH3PXD2B
Mutations and Diseases : HGMDSH3PXD2B
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaSH3PXD2B
DgiDB (Drug Gene Interaction Database)SH3PXD2B
DoCM (Curated mutations)SH3PXD2B
CIViC (Clinical Interpretations of Variants in Cancer)SH3PXD2B
Cancer3DSH3PXD2B
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM249420    613293   
Orphanet
DisGeNETSH3PXD2B
MedgenSH3PXD2B
Genetic Testing Registry SH3PXD2B
NextProtA1X283 [Medical]
GENETestsSH3PXD2B
Target ValidationSH3PXD2B
Huge Navigator SH3PXD2B [HugePedia]
ClinGenSH3PXD2B
Clinical trials, drugs, therapy
MyCancerGenomeSH3PXD2B
Protein Interactions : CTDSH3PXD2B
Pharm GKB GenePA134864119
PharosA1X283
Clinical trialSH3PXD2B
Miscellaneous
canSAR (ICR)SH3PXD2B
HarmonizomeSH3PXD2B
DataMed IndexSH3PXD2B
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSH3PXD2B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:31:02 CEST 2021

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