Disease-gene associations mined from literature

Literature associating TNKS2 and arthrogryposis, renal dysfunction, and cholestasis 1

TNKS2 [ENSP00000360689]

Tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2; Poly-ADP-ribosyltransferase involved in various processes such as Wnt signaling pathway, telomere length and vesicle trafficking. 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. May also regulate vesicle trafficking and modulate the subcellular distribution of SLC2A4/GLUT4-vesicles. Stimulates 26S proteasome activity; Ankyrin repeat domain containing

Synonyms:  TNKS2,  TNKS2p,  hTNKS2,  Q9H2K2,  TNKS2-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM