PTPA

Chr 9q34.11

protein phosphatase 2 phosphatase activator

Aliases:: PR53
MANE:: ENST00000393370.7

OMIM: 600756 ↗NCBI: 5524 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

PTPA · Q15257

v62025-08-01

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

Mean pLDDT

87.2/ 100

Confident

358 residues

Confidence breakdown

Very high(≥ 90)77%
Confident(70–90)6%
Low(50–70)2%
Very low(< 50)15%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development
0.55
atopic eczema
0.23
ventricular septal defect
0.21
hypersomnia
0.21
Intellectual disability
0.19
neoplasm
0.11
acute myeloid leukemia
0.11
cancer
0.11
Alzheimer disease
0.10
Parkinson disease
0.10

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

Protein function (UniProt)

Receptor-type tyrosine-protein phosphatase alpha

Tyrosine protein phosphatase which is involved in integrin-mediated focal adhesion formation (By similarity). Following integrin engagement, specifically recruits BCAR3, BCAR1 and CRK to focal adhesions thereby promoting SRC-mediated phosphorylation of BRAC1 and the subsequent activation of PAK and small GTPase RAC1 and CDC42 (By similarity)