DISEASES

Disease-gene associations mined from literature

Literature associating BEND3 and heel spur

BEND3 [ENSP00000411268]

BEN domain-containing protein 3; Transcriptional repressor which associates with the NoRC (nucleolar remodeling complex) complex and plays a key role in repressing rDNA transcription. The sumoylated form modulates the stability of the NoRC complex component BAZ2A/TIP5 by controlling its USP21-mediated deubiquitination . Binds to unmethylated major satellite DNA and is involved in the recruitment of the Polycomb repressive complex 2 (PRC2) to major satellites (By similarity). Stimulates the ERCC6L translocase and ATPase activities . ECO:0000269|PubMed:21914818, ECO:0000269|PubMed:26100909,

Synonyms:  BEND3,  BEND3p,  hBEND3,  Q5T5X7,  Q5T5X7p ...

Linkouts:  STRING  Pharos  UniProt