PTPN14 gene

protein tyrosine phosphatase, non-receptor type 14

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains an N-terminal noncatalytic domain similar to that of band 4.1 superfamily cytoskeleton-associated proteins, which suggested the membrane or cytoskeleton localization of this protein. It appears to regulate lymphatic development in mammals, and a loss of function mutation has been found in a kindred with a lymphedema-choanal atresia. [provided by RefSeq, Sep 2010]

From UniProt:

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.

From NCBI Gene:

  • Choanal atresia and lymphedema

From UniProt:

Choanal atresia and lymphedema (CHATLY): A disease characterized by posterior choanal atresia and lymphedema. Additional features are a high-arched palate, hypoplastic nipples, and mild pectus excavatum. [MIM:613611]

Influence clinical severity of hereditary haemorragic telagiectasia (HHT).

Cytogenetic Location: 1q32.3-q41, which is the long (q) arm of chromosome 1 between positions 32.3 and 41

Molecular Location: base pairs 214,348,696 to 214,551,681 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q32.3-q41, which is the long (q) arm of chromosome 1 between positions 32.3 and 41
  • PEZ
  • PTP36