Homo sapiens Protein: CD2AP
Summary
InnateDB Protein IDBP-90087.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CD2AP
Protein Name CD2-associated protein
Synonyms CMS;
Species Homo sapiens
Ensembl Protein ENSP00000352264
InnateDB Gene IDBG-90083 (CD2AP)
Protein Structure
UniProt Annotation
Function Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton. In collaboration with CBLC, modulates the rate of RET turnover and may act as regulatory checkpoint that limits the potency of GDNF on neuronal survival. Controls CBLC function, converting it from an inhibitor to a promoter of RET degradation. May play a role in receptor clustering and cytoskeletal polarity in the junction between T- cell and antigen-presenting cell. May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis. {ECO:0000269PubMed:15800069}.
Subcellular Localization Cytoplasm, cytoskeleton {ECO:0000250}. Cell projection, ruffle {ECO:0000250}. Note=Colocalizes with F-actin and BCAR1/p130Cas in membrane ruffles. Located at podocyte slit diaphragm between podocyte foot processes (By similarity). During late anaphase and telophase, concentrates in the vicinity of the midzone microtubules and in the midbody in late telophase. {ECO:0000250, ECO:0000269PubMed:15800069}.
Disease Associations Focal segmental glomerulosclerosis 3 (FSGS3) [MIM:607832]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity Widely expressed in fetal and adult tissues.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 96 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.
Experimentally validated
Total 96 [view]
Protein-Protein 93 [view]
Protein-DNA 3 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 7 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0017124 SH3 domain binding
Biological Process
GO:0006461 protein complex assembly
GO:0006930 substrate-dependent cell migration, cell extension
GO:0007067 mitotic nuclear division
GO:0007165 signal transduction
GO:0032911 negative regulation of transforming growth factor beta1 production
GO:1900182 positive regulation of protein localization to nucleus
GO:2000249 regulation of actin cytoskeleton reorganization
Cellular Component
GO:0001726 ruffle
GO:0005737 cytoplasm
GO:0005886 plasma membrane
GO:0005911 cell-cell junction
GO:0015629 actin cytoskeleton
GO:0031941 filamentous actin
GO:0070062 extracellular vesicular exosome
Protein Structure and Domains
PDB ID
InterPro IPR001452 SH3 domain
IPR011511 Variant SH3 domain
PFAM PF00018
PF14604
PF07653
PRINTS PR00452
PIRSF
SMART SM00326
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9Y5K6
PhosphoSite PhosphoSite-Q9Y5K6
TrEMBL
UniProt Splice Variant
Entrez Gene 23607
UniGene Hs.485518
RefSeq NP_036252
HUGO HGNC:14258
OMIM 604241
CCDS CCDS34472
HPRD 05026
IMGT
EMBL AF146277 AF164377 AL050105 AL355353 AL358178 BC069444 CH471081
GenPept AAD34595 AAF80495 AAH69444 CAB43274 CAH73238 CAI16839 EAX04319