C11ORF52

Chr 11

chromosome 11 open reading frame 52

NCBI Gene: 91894 ENSG00000149300 UniProt: Q96A22

The protein encoded by C11ORF52 is located in extracellular exosomes, but its specific function remains unclear. This gene is highly constrained against loss-of-function variants (pLI = 0.00003), suggesting it plays an essential role in human development or cellular function, though no associated human diseases have been definitively established.

ResearchSummary from RefSeq

Located in cell junction. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.69

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.69LOEUF

pLI 0.000

Z-score 0.14

OE 0.94 (0.53–1.69)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.79Z-score

OE missense 0.75 (0.61–0.93)

59 obs / 78.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.94 (0.53–1.69)

0≤0.351.4

Missense OE?0.75 (0.61–0.93)

0≤0.61.4

Synonymous OE?0.73

0≤1.21.6

LoF obs/exp: 7 / 7.4Missense obs/exp: 59 / 78.7Syn Z: 1.15

Background carrier burden — how many people carry a rare variant somewhere in C11ORF52?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 240

149 rare PASS variants

Rare truncating (LoF)

1 in 3,800

36 rare PASS variants

Rare synonymous (reference)

1 in 3,300

53 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for C11ORF52. 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 260	1 in 5,800
South Asian	~43k	1 in 1,200	1 in 630
Remaining (unassigned)	~30k	1 in 260	1 in 4,300
European (Finnish)	~27k	1 in 580	none seen
Admixed American	~22k	1 in 210	≈ 1 in 5,700
African / African American	~21k	1 in 380	≈ 1 in 9,300
East Asian	~20k	1 in 170	1 in 2,500
Ashkenazi Jewish	~13k	≈ 1 in 3,300	none seen
Middle Eastern	~2,884	1 in 480	≈ 1 in 2,900

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