UGP2

Chr 2p15

UDP-glucose pyrophosphorylase 2

Aliases:: UGPP1, SVUGP2
MANE:: ENST00000337130.10

OMIM: 191760 ↗NCBI: 7360 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

UGP2 · Q16851

v62025-08-01

Predicted Aligned Error matrix for UGP2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.6/ 100

Confident

508 residues

Confidence breakdown

Very high(≥ 90)63%
Confident(70–90)31%
Low(50–70)2%
Very low(< 50)3%

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

Disease associations (Open Targets)

developmental and epileptic encephalopathy, 83
0.68
Epileptic encephalopathy
0.37
skin infection
0.31
cervical carcinoma
0.29
prostate carcinoma
0.29
autoimmune disorder of central nervous system
0.26
lymphatic system disorder
0.25
vein disorder
0.25
preeclampsia
0.20
hereditary disease
0.20

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

Protein function (UniProt)

UTP--glucose-1-phosphate uridylyltransferase

UTP--glucose-1-phosphate uridylyltransferase catalyzing the conversion of glucose-1-phosphate into UDP-glucose, a crucial precursor for the production of glycogen