DISEASES

Disease-gene associations mined from literature

Literature associating KDM2B and Weaver syndrome

KDM2B [ENSP00000366271]

Jumonji domain-containing EMSY-interactor methyltransferase motif protein; 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.

Synonyms:  KDM2B,  KDM2Bp,  hKDM2B,  F5GXC2,  F5GXW2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM