Participation in development processess – major |
Face, eye, limb, body wall, neural tube development |
Participation in development processess – other |
Early morphogenesis of lens vesicle; kidney development |
Male gonad development |
Associated diseases |
BOFS; ectopic thymus; anophthalmia-microphthalmia syndrome |
Exencephaly; melanoma; pre-eclampsia |
Mutual interactions |
Interacts with WWOX, CITED2, CITED4, UBE2I, KCTD1, KCTD15, EP300; Suppresses MCAM/MUC18, C/EBPα; Stimulates transcriptional activation of PITX2 |
Exclusive interactions |
Along with binding NPM1 – represses HSPD1 gene expression, inhibiting formation of mitochondrial chaperonin; |
Along with MTA1 – mediates epigenetic regulation of ESR1 expression in breast cancer (BCa); Interacts with KDM5B |
Stimulates APOE gene transcription in co-operation with DEK; |
Interacts with RALBP1 (in complex containing NUMB and EPN1) during interphase and mitosis |