PTPN14

Chr 1q32.3-q41

protein tyrosine phosphatase non-receptor type 14

Aliases:: PEZ, PTPD2
MANE:: ENST00000366956.10

OMIM: 603155 ↗NCBI: 5784 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PTPN14 · Q15678

v62025-08-01

Predicted Aligned Error matrix for PTPN14 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.3/ 100

Low

1,187 residues

Confidence breakdown

Very high(≥ 90)36%
Confident(70–90)12%
Low(50–70)4%
Very low(< 50)48%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema
BIALLELIC, autosomal or pseudoautosomal
Choanal atresia
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

lymphedema-posterior choanal atresia syndrome
0.72
neurodegenerative disease
0.49
basal cell carcinoma
0.49
Abnormality of the skeletal system
0.43
cutaneous melanoma
0.41
skin neoplasm
0.36
schizophrenia
0.31
response to antihypertensive drug
0.31
melanoma
0.29
hair color
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tyrosine-protein phosphatase non-receptor type 14

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