UGP2

Chr 2

UDP-glucose pyrophosphorylase 2

Also known as: DEE83, EIEE83, SVUGP2, UDPG, UDPGP, UDPGP2, UGP1, UGPP1

NCBI Gene: 7360 ENSG00000169764 UniProt: Q16851

UTP-glucose-1-phosphate uridylyltransferase catalyzes the conversion of glucose-1-phosphate to UDP-glucose, a crucial precursor for glycogen synthesis in liver and muscle. Mutations cause developmental and epileptic encephalopathy 83, inherited in an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern where heterozygous carriers are unaffected.

ResearchSummary from RefSeq, OMIM, UniProt

The enzyme encoded by this gene is an important intermediary in mammalian carbohydrate interconversions. It transfers a glucose moiety from glucose-1-phosphate to MgUTP and forms UDP-glucose and MgPPi. In liver and muscle tissue, UDP-glucose is a direct precursor of glycogen; in lactating mammary gland it is converted to UDP-galactose which is then converted to lactose. The eukaryotic enzyme has no significant sequence similarity to the prokaryotic enzyme. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

LOFmechanismLOEUF 1.12

Clinical Summary— UGP2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 51 VUS of 90 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.12LOEUF

pLI 0.000

Z-score 1.15

OE 0.73 (0.48–1.12)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.93Z-score

OE missense 0.67 (0.59–0.76)

180 obs / 269.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.73 (0.48–1.12)

0≤0.351.4

Missense OE?0.67 (0.59–0.76)

0≤0.61.4

Synonymous OE?1.08

0≤1.21.6

LoF obs/exp: 15 / 20.7Missense obs/exp: 180 / 269.4Syn Z: -0.60

ClinVar Variant Classifications

90 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1

VUS51

Likely Benign15

Benign3

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	1	0	0	1
VUS	4	45	2	0	51
Likely Benign	0	2	1	12	15
Benign	0	0	2	1	3
Total	4	48	5	13	70

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

13 pathogenic / likely-pathogenic (of 18) ClinVar copy-number / structural variants overlap UGP2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →