Disease-gene associations mined from literature

Literature associating CTNND2 and familial adult myoclonic epilepsy 5

CTNND2 [ENSP00000307134]

Catenin (cadherin-associated protein), delta 2; Has a critical role in neuronal development, particularly in the formation and/or maintenance of dendritic spines and synapses. Involved in the regulation of Wnt signaling. It probably acts on beta- catenin turnover, facilitating beta-catenin interaction with GSK3B, phosphorylation, ubiquitination and degradation (By similarity). Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules.

Synonyms:  CTNND2,  CTNND2p,  hCTNND2,  B4DRK2,  D6R9A8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM