| GENE NAME | CC2D2A |
| CHROMOSOME | 4 |
| ENSEMBL ID | ENSG00000048342 |
| ENTREZ ID | 57545 |
| UNIPROT ACCESSION NUMBER | Q9P2K1 |
| GO MOLECULAR FUNCTION | |
| ESSENTIAL IN MOUSE | Non-essential |
| PATHWAYS | R-HSA-5620912; R-HSA-1852241; R-HSA-5617833 |
| 5 combinations linked to CC2D2A | OLI216; OLI215; OLI246; OLI247; OLI359 |
| 5 variants linked to CC2D2A | CC2D2A:c.2571G>A, p.Gly776Arg; CC2D2A:c.2778_2782del, p.Asn926LysfsTer7; CC2D2A:c.3084delG, p.Lys1029ArgfsTer3; CC2D2A:c.3217C>T, p.Arg1049Ter; CC2D2A:c.4340A>C, p.Glu1447Ala |
| 3 diseases linked to CC2D2A | Joubert syndrome; Meckel syndrome; Nephronophthisis |