P3H2

Chr 3q28

prolyl 3-hydroxylase 2

Aliases:: FLJ10718, MLAT4
MANE:: ENST00000319332.10

OMIM: 610341 ↗NCBI: 55214 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

P3H2 · Q8IVL5

v62025-08-01

Predicted Aligned Error matrix for P3H2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

83.4/ 100

Confident

708 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)23%
Low(50–70)6%
Very low(< 50)12%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Structural eye disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Rare isolated myopia
0.75
osteoarthritis, hip
0.47
retinitis pigmentosa
0.35
bilirubin metabolism disease
0.31
osteoarthritis, knee
0.31
total joint arthroplasty
0.31
Thrombocytopenia
0.30
total hip arthroplasty
0.30
placental retention
0.30
eye disorder
0.29

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

Protein function (UniProt)

Prolyl 3-hydroxylase 2

Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens (PubMed:18487197). Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule (By similarity). Has high activity with the type IV collagen COL4A1, and lower activity with COL1A1 (PubMed:18487197). Catalyzes hydroxylation of the first Pro in Gly-Pro-Hyp sequences where Hyp is 4-hydroxyproline (PubMed:18487197). Has no activity on substrates that lack 4-hydroxyproline in the third position (PubMed:18487197)