Homo sapiens Protein: SH3PXD2B
Summary
InnateDB Protein IDBP-57773.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SH3PXD2B
Protein Name SH3 and PX domains 2B
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000309714
InnateDB Gene IDBG-57771 (SH3PXD2B)
Protein Structure
UniProt Annotation
Function Adapter protein involved in invadopodia and podosome formation and extracellular matrix degradation. Binds matrix metalloproteinases (ADAMs), NADPH oxidases (NOXs) and phosphoinositides. Acts as an organizer protein that allows NOX1- or NOX3-dependent reactive oxygen species (ROS) generation and ROS localization. Plays a role in mitotic clonal expansion during the immediate early stage of adipocyte differentiation (By similarity). {ECO:0000250}.
Subcellular Localization Cytoplasm {ECO:0000250}. Cell projection, podosome {ECO:0000250}. Note=Cytoplasmic in normal cells and localizes to podosomes in SRC-transformed cells. {ECO:0000250}.
Disease Associations Frank-Ter Haar syndrome (FTHS) [MIM:249420]: A syndrome characterized by brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, bowing of the long bones and flexion deformity of the fingers. {ECO:0000269PubMed:20137777}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Expressed in fibroblasts. {ECO:0000269PubMed:20137777}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 7 experimentally validated interaction(s) in this database.
Experimentally validated
Total 7 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 1 [view]
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0010314 phosphatidylinositol-5-phosphate binding
GO:0032266 phosphatidylinositol-3-phosphate binding
GO:0035091 phosphatidylinositol binding
GO:0042169 SH2 domain binding
GO:0070273 phosphatidylinositol-4-phosphate binding
GO:0080025 phosphatidylinositol-3,5-bisphosphate binding
Biological Process
GO:0001501 skeletal system development
GO:0001654 eye development
GO:0006801 superoxide metabolic process
GO:0007507 heart development
GO:0022617 extracellular matrix disassembly
GO:0030154 cell differentiation
GO:0045600 positive regulation of fat cell differentiation
GO:0060348 bone development
GO:0060612 adipose tissue development
GO:0071800 podosome assembly
GO:0072657 protein localization to membrane
Cellular Component
GO:0002102 podosome
GO:0005737 cytoplasm
GO:0030054 cell junction
GO:0042995 cell projection
Protein Structure and Domains
PDB ID
InterPro IPR001452 SH3 domain
IPR001683 Phox homologous domain
IPR003646 SH3-like domain, bacterial-type
IPR010466 Protein of unknown function DUF1058
IPR011511 Variant SH3 domain
PFAM PF00018
PF14604
PF00787
PF08239
PF08460
PF06347
PF07653
PRINTS PR00452
PIRSF
SMART SM00326
SM00312
SM00287
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt A1X283
PhosphoSite PhosphoSite-A1X283
TrEMBL
UniProt Splice Variant
Entrez Gene 285590
UniGene Hs.734561
RefSeq NP_001017995
HUGO HGNC:29242
OMIM 613293
CCDS CCDS34291
HPRD 18591
IMGT
EMBL AB037716 AB430862 AC008671 AC011407 AC090064 DQ109556
GenPept AAZ99795 BAA92533 BAG81977