PTPN23

Chr 3p21.31

protein tyrosine phosphatase non-receptor type 23

Aliases:: DKFZP564F0923, KIAA1471, HD-PTP
MANE:: ENST00000265562.5

OMIM: 606584 ↗NCBI: 25930 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

PTPN23 · Q9H3S7

v62025-08-01

Predicted Aligned Error matrix for PTPN23 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.6/ 100

Low

1,636 residues

Confidence breakdown

Very high(≥ 90)41%
Confident(70–90)19%
Low(50–70)3%
Very low(< 50)37%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
0.81
neurodegenerative disease
0.46
Brain atrophy
0.41
Global developmental delay
0.41
Intellectual disability
0.37
complex neurodevelopmental disorder
0.37
hereditary spastic paraplegia
0.26
Seizure
0.26
liver disorder
0.24
hereditary disease
0.20

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

Protein function (UniProt)

Tyrosine-protein phosphatase non-receptor type 23

Plays a role in sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs) via its interaction with the ESCRT-I complex (endosomal sorting complex required for transport I), and possibly also other ESCRT complexes (PubMed:18434552, PubMed:21757351). May act as a negative regulator of Ras-mediated mitogenic activity (PubMed:18434552). Plays a role in ciliogenesis (PubMed:20393563)