PTPN14
Function
Protein tyrosine phosphatase which may play a role in the regulation of lymphangiogenesis, cell-cell adhesion, cell-matrix adhesion, cell migration, cell growth and also regulates TGF-beta gene expression, thereby modulating epithelial-mesenchymal transition. Mediates beta-catenin dephosphorylation at adhesion junctions. Acts as a negative regulator of the oncogenic property of YAP, a downstream target of the hippo pathway, in a cell density-dependent manner. May function as a tumor suppressor.
Involvement in disease
Choanal atresia and lymphedema
CATLPH
A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum.
None
The disease is caused by variants affecting the gene represented in this entry. A homozygous deletion in PTPN14 predicted to result in frameshift and premature truncation, has been shown to be the cause of choanal atresia and lymphedema in one family.
Influence clinical severity of hereditary haemorragic telagiectasia (HHT).
Post-translational modifications
Ubiquitinated by the ECS (Elongin BC-CUL2/5-SOCS-box protein)/LRR1 E3 ligase complex and subsequently targeted to proteasomal degradation.
Sequence Similarities
Belongs to the protein-tyrosine phosphatase family. Non-receptor class subfamily.
Tissue Specificity
Ubiquitous.
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Nucleus
- Translocation into the nucleus is associated with induction of cell proliferation. Partially colocalized with actin filaments at the plasma membrane.
Alternative names
PEZ, PTPD2, PTPN14, Tyrosine-protein phosphatase non-receptor type 14, Protein-tyrosine phosphatase pez