DISEASES

Disease-gene associations mined from literature

Literature associating TNKS2 and cherubism

TNKS2 [ENSP00000360689]

Poly [ADP-ribose] polymerase tankyrase-2; Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking (PubMed:11739745, PubMed:11802774, PubMed:19759537, PubMed:21478859, PubMed:23622245, PubMed:25043379). Acts as an activator of the Wnt signaling pathway by mediating poly-ADP-ribosylation of AXIN1 and AXIN2, 2 key components of the beta-catenin destruction complex: poly- ADP-ribosylated target proteins are recognized by RNF146, which mediates their ubiquitination and subsequent degradation . Also mediates poly-ADP-ribosylation of BLZF1 and CASC3, followed by recruitment of RNF146 and subsequent ubiquitination . Mediates poly-ADP-ribosylation of TERF1, thereby contributing to the regulation of telomere length . Stimulates 26S proteasome activity . ECO:0000269|PubMed:11802774, ECO:0000269|PubMed:19759537, ECO:0000269|PubMed:21478859, ECO:0000269|PubMed:23622245,

Synonyms:  TNKS2,  TNKS2p,  hTNKS2,  Q9H2K2,  Q9H2K2p ...

Linkouts:  STRING  Pharos  UniProt  OMIM