CD2AP Chromosome 6
CD2 associated protein
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What This Gene Does
This gene encodes a scaffolding molecule that regulates the actin cytoskeleton. The protein directly interacts with filamentous actin and a variety of cell membrane proteins through multiple actin binding sites, SH3 domains, and a proline-rich region containing binding sites for SH3 domains. The cytoplasmic protein localizes to membrane ruffles, lipid rafts, and the leading edges of cells. It is implicated in dynamic actin remodeling and membrane trafficking that occurs during receptor endocytosis and cytokinesis. Haploinsufficiency of this gene is implicated in susceptibility to glomerular disease. [provided by RefSeq, Jul 2008]
Associated Conditions (7)
Corticosteroids response
Focal segmental glomerulosclerosis 3
susceptibility to
CD2AP-related disorder
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3
Inborn genetic diseases
Nonpapillary renal cell carcinoma
Key Variants
RS1377431158
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS1768461384
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS2114154249
drug response
Corticosteroids response, Corticosteroids response
Drug Response
RS140188898
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 3, susceptibility to, Focal segmental glomerulosclerosis 3
Health Risk
RS142643033
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 3, susceptibility to, Focal segmental glomerulosclerosis 3
Health Risk
RS150851309
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 3, susceptibility to, CD2AP-related disorder
Health Risk
RS267606710
Conflicting classifications of pathogenicity
FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, Focal segmental glomerulosclerosis 3, susceptibility to
Health Risk
RS371140357
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS570511925
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 3, susceptibility to, Inborn genetic diseases
Health Risk
RS756452107
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS759309620
Conflicting classifications of pathogenicity
Focal segmental glomerulosclerosis 3, susceptibility to, Focal segmental glomerulosclerosis 3
Health Risk
RS1768930040
Likely pathogenic
CD2AP-related disorder, CD2AP-related disorder
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1377431158 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS1768461384 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS2114154249 | Drug Response | drug response | Corticosteroids response, Corticosteroids response |
| RS140188898 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 3, susceptibility to, Focal segmental glomerulosclerosis 3 |
| RS142643033 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 3, susceptibility to, Focal segmental glomerulosclerosis 3 |
| RS150851309 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 3, susceptibility to, CD2AP-related disorder |
| RS267606710 | Health Risk | Conflicting classifications of pathogenicity | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, Focal segmental glomerulosclerosis 3, susceptibility to |
| RS371140357 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS570511925 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 3, susceptibility to, Inborn genetic diseases |
| RS756452107 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS759309620 | Health Risk | Conflicting classifications of pathogenicity | Focal segmental glomerulosclerosis 3, susceptibility to, Focal segmental glomerulosclerosis 3 |
| RS1768930040 | Health Risk | Likely pathogenic | CD2AP-related disorder, CD2AP-related disorder |
| RS2481088488 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis 3, susceptibility to, Focal segmental glomerulosclerosis 3 |
| RS2481298544 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis 3, susceptibility to, Focal segmental glomerulosclerosis 3 |
| RS368795308 | Health Risk | Likely pathogenic | Focal segmental glomerulosclerosis 3, susceptibility to, Focal segmental glomerulosclerosis 3 |
| RS1393955970 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 3, susceptibility to, Nonpapillary renal cell carcinoma |
| RS1554181304 | Health Risk | Pathogenic | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, Focal segmental glomerulosclerosis 3, susceptibility to |
| RS1769050790 | Health Risk | Pathogenic | — |
| RS773479372 | Health Risk | Pathogenic | Focal segmental glomerulosclerosis 3, susceptibility to, Focal segmental glomerulosclerosis 3 |
| RS776297606 | Health Risk | Pathogenic/Likely pathogenic | Focal segmental glomerulosclerosis 3, susceptibility to, Focal segmental glomerulosclerosis 3 |