DISEASES

Disease-gene associations mined from literature

Literature associating CTCFL and Silver-Russell syndrome

CTCFL [ENSP00000415579]

Transcriptional repressor CTCFL; Testis-specific DNA binding protein responsible for insulator function, nuclear architecture and transcriptional control, which probably acts by recruiting epigenetic chromatin modifiers. Plays a key role in gene imprinting in male germline, by participating in the establishment of differential methylation at the IGF2/H19 imprinted control region (ICR). Directly binds the unmethylated H19 ICR and recruits the PRMT7 methyltransferase, leading to methylate histone H4 'Arg-3' to form H4R3sme2. This probably leads to recruit de novo DNA methyltransferases at these sites (By similarity). Seems to act as tumor suppressor. In association with DNMT1 and DNMT3B, involved in activation of BAG1 gene expression by binding to its promoter. Required for dimethylation of H3 lysine 4 (H3K4me2) of MYC and BRCA1 promoters. ; Belongs to the CTCF zinc-finger protein family.

Synonyms:  CTCFL,  F5H2V8,  Q8NI51,  V9GY73,  V9GYX4 ...

Linkouts:  STRING  Pharos  UniProt