CYP2R1

Chr 11p15.2

cytochrome P450 family 2 subfamily R member 1

MANE:: ENST00000334636.10

OMIM: 608713 ↗NCBI: 120227 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CYP2R1 · Q6VVX0

v62025-08-01

Predicted Aligned Error matrix for CYP2R1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

96.3/ 100

Very high

501 residues

Confidence breakdown

Very high(≥ 90)93%
Confident(70–90)5%
Low(50–70)2%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hypophosphataemia or rickets
BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia
BIALLELIC, autosomal or pseudoautosomal
Retinal disorders
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Hypocalcemic vitamin D-dependent rickets
0.75
vitamin D deficiency
0.50
vitamin deficiency disorder
0.47
rickets
0.38
alcohol drinking
0.28
urolithiasis
0.28
COVID-19
0.28
vitamin D-dependent rickets, type 1
0.27
Vogt-Koyanagi-Harada disease
0.19
squamous cell carcinoma
0.18

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

Protein function (UniProt)

Vitamin D 25-hydroxylase

A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D(2) and D(3) (calciol) (PubMed:12867411, PubMed:15465040, PubMed:18511070). Can metabolize vitamin D analogs/prodrugs 1alpha-hydroxyvitamin D(2) (doxercalciferol) and 1alpha-hydroxyvitamin D(3) (alfacalcidol) forming 25-hydroxy derivatives (PubMed:15465040, PubMed:18511070). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase) (PubMed:12867411, PubMed:15465040, PubMed:18511070)