Homo sapiens Protein: CD2AP | |||||||||||||||||||||||
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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.
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Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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Biological Process |
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Cellular Component |
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Protein Structure and Domains | |||||||||||||||||||||||
PDB ID | |||||||||||||||||||||||
InterPro |
IPR001452
SH3 domain IPR011511 Variant SH3 domain |
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PFAM |
PF00018
PF14604 PF07653 |
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PRINTS |
PR00452
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PIRSF | |||||||||||||||||||||||
SMART |
SM00326
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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 | ||||||||||||||||||||||