Details for Gene CC2D2A

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; OLI359; OLI247; OLI246; OLI215
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

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