AlphaFold predicted structure
CD2AP · Q9Y5K6
Mean pLDDT
62.2/ 100
Low
639 residues
Confidence breakdown
- Very high(≥ 90)29%
- Confident(70–90)8%
- Low(50–70)11%
- Very low(< 50)51%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
CD2AP
Chr 6p12.3CD2 associated protein
- Aliases:
- CMS
- MANE:
- ENST00000359314.5
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Proteinuric renal disease
BOTH monoallelic and biallelic, autosomal or pseudoautosomalUnexplained kidney failure in young people
Disease associations (Open Targets)
familial idiopathic steroid-resistant nephrotic syndrome
0.70focal segmental glomerulosclerosis
0.59Alzheimer disease
0.49Abnormality of the skeletal system
0.39dementia
0.32late-onset Alzheimers disease
0.25Peyronie disease
0.25inherited focal segmental glomerulosclerosis
0.23hereditary disease
0.19prostate cancer
0.11
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
CD2-associated protein
Seems to act as an adapter protein between membrane proteins and the actin cytoskeleton (PubMed:10339567). 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 (By similarity). May play a role in receptor clustering and cytoskeletal polarity in the junction between T-cell and antigen-presenting cell (By similarity). May anchor the podocyte slit diaphragm to the actin cytoskeleton in renal glomerolus. Also required for cytokinesis (PubMed:15800069). Plays a role in epithelial cell junctions formation (PubMed:22891260)
Diseases associated with CD2AP
Curated MONDO disease pages that list CD2AP among their top associated genes.