UBE2Q2

Chr 15

ubiquitin conjugating enzyme E2 Q2

NCBI Gene: 92912 ENSG00000140367 UniProt: Q8WVN8

Enables ubiquitin-protein transferase activity. Involved in protein K48-linked ubiquitination. Predicted to be located in cytosol. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.94

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?

0.94LOEUF

pLI 0.000

Z-score 1.77

OE 0.61 (0.41–0.94)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.62Z-score

OE missense 0.87 (0.77–0.99)

163 obs / 187.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.61 (0.41–0.94)

0≤0.351.4

Missense OE?0.87 (0.77–0.99)

0≤0.61.4

Synonymous OE?0.90

0≤1.21.6

LoF obs/exp: 15 / 24.5Missense obs/exp: 163 / 187.0Syn Z: 0.67

Background carrier burden — how many people carry a rare variant somewhere in UBE2Q2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 130

547 rare PASS variants

Rare truncating (LoF)

1 in 1,500

130 rare PASS variants

Rare synonymous (reference)

1 in 290

197 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for UBE2Q2. 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 180	1 in 1,800
South Asian	~43k	1 in 100	1 in 650
Remaining (unassigned)	~30k	1 in 110	1 in 3,700
European (Finnish)	~27k	1 in 540	1 in 2,200
Admixed American	~22k	1 in 100	1 in 790
African / African American	~21k	1 in 92	1 in 2,600
East Asian	~20k	1 in 220	1 in 1,100
Ashkenazi Jewish	~13k	1 in 340	≈ 1 in 12,000
Middle Eastern	~2,883	1 in 110	≈ 1 in 1,400

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): 10 of 13 coding exons well covered in gnomAD exomes; exons 8, 12, 13 marginal. Genomes: all 13.? see exons ↓