GENE NAME | CD2AP |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000198087 |
ENTREZ ID | 23607 |
UNIPROT ACCESSION NUMBER | Q9Y5K6 |
GO MOLECULAR FUNCTION | SH3 domain binding; structural constituent of cytoskeleton; protein binding; identical protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-1500931; hsa05100; R-HSA-373753 |
1 combination linked to CD2AP | OLI320 |
1 variant linked to CD2AP | CD2AP:c.1488G>A, p.Met496Ile |
1 disease linked to CD2AP | Genetic steroid-resistant nephrotic syndrome |