DISEASES

Disease-gene associations mined from literature

Literature associating KDM2B and syndromic microphthalmia 2

KDM2B [ENSP00000366271]

Lysine-specific demethylase 2B; Histone demethylase that demethylates 'Lys-4' and 'Lys-36' of histone H3, thereby playing a central role in histone code . Preferentially demethylates trimethylated H3 'Lys-4' and dimethylated H3 'Lys-36' residue while it has weak or no activity for mono- and tri-methylated H3 'Lys-36' . Preferentially binds the transcribed region of ribosomal RNA and represses the transcription of ribosomal RNA genes which inhibits cell growth and proliferation . May also serve as a substrate-recognition component of the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex (Probable).

Synonyms:  KDM2B,  KDM2Bp,  hKDM2B,  A0A0C4DGG3,  F5GXC2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM