UBE2L5

Chr 13

ubiquitin conjugating enzyme E2 L5

Also known as: UBCH7N2, UBE2L5P

NCBI Gene: 171222 ENSG00000236444 UniProt: A0A1B0GUS4

The protein catalyzes the covalent attachment of ubiquitin to other proteins and is involved in K11-linked ubiquitination and protein degradation processes in the nucleus. Mutations in UBE2L5 cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy. The disorder is characterized by severe developmental delay, epilepsy, and neurological regression affecting the central nervous system.

ResearchSummary from RefSeq, UniProt

Predicted to enable ubiquitin conjugating enzyme activity. Predicted to be involved in protein K11-linked ubiquitination and ubiquitin-dependent protein catabolic process. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in UBE2L5?

gnomAD v4 · ~730k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 530

144 rare PASS variants

Rare truncating (LoF)

1 in 5,900

11 rare PASS variants

Rare synonymous (reference)

1 in 870

68 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for UBE2L5. 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 580	1 in 15,000
South Asian	~43k	1 in 570	none seen
Remaining (unassigned)	~30k	1 in 420	1 in 6,000
European (Finnish)	~27k	1 in 740	1 in 620
Admixed American	~22k	1 in 970	none seen
African / African American	~21k	1 in 720	≈ 1 in 21,000
East Asian	~20k	1 in 370	1 in 590
Ashkenazi Jewish	~13k	≈ 1 in 6,500	none seen
Middle Eastern	~2,877	1 in 340	none seen

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 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓