UPP2

Chr 2

uridine phosphorylase 2

Also known as: UDRPASE2, UP2, UPASE2

NCBI Gene: 151531 ENSG00000007001 UniProt: O95045

Enables identical protein binding activity and pyrimidine-nucleoside phosphorylase activity. Involved in pyrimidine nucleoside monophosphate catabolic process; uridine catabolic process; and xenobiotic catabolic process. Acts upstream of or within dCMP catabolic process. Located in type III intermediate filament. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.90

LOEUF

Mechanism· predicted

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?

0.90LOEUF

pLI 0.001

Z-score 1.85

OE 0.48 (0.27–0.90)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.38Z-score

OE missense 0.93 (0.82–1.04)

193 obs / 208.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.48 (0.27–0.90)

0≤0.351.4

Missense OE?0.93 (0.82–1.04)

0≤0.61.4

Synonymous OE?0.93

0≤1.21.6

LoF obs/exp: 7 / 14.7Missense obs/exp: 193 / 208.4Syn Z: 0.46

Background carrier burden — how many people carry a rare variant somewhere in UPP2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 87

478 rare PASS variants

Rare truncating (LoF)

1 in 760

85 rare PASS variants

Rare synonymous (reference)

1 in 210

153 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for UPP2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 150	1 in 980
South Asian	~43k	1 in 110	1 in 240
Remaining (unassigned)	~30k	1 in 100	1 in 670
European (Finnish)	~27k	1 in 290	1 in 2,200
Admixed American	~22k	1 in 160	1 in 350
African / African American	~21k	1 in 73	1 in 710
East Asian	~20k	1 in 140	1 in 490
Ashkenazi Jewish	~13k	1 in 370	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 130	1 in 360

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 7 coding exons well covered in gnomAD exomes and genomes.? see exons ↓