C2ORF66

Chr 2

chromosome 2 open reading frame 66

Also known as: IIDS6411, UNQ6411

NCBI Gene: 401027 ENSG00000187944 UniProt: Q6UXQ4

C2ORF66 encodes a protein predicted to be located in the extracellular region, though its specific function remains unclear. The gene shows low constraint against loss-of-function variants (pLI = 0.007, LOEUF = 1.83), suggesting tolerance to functional disruption. No established disease associations have been reported for mutations in this gene.

ResearchSummary from RefSeq

Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

LOEUF 1.83

Clinical Summary— C2ORF66

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Population Constraint (gnomAD)

Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

3 total variants — no pathogenic classifications of 3 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.83LOEUF

pLI 0.007

Z-score 0.11

OE 0.94 (0.41–1.83)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.28Z-score

OE missense 0.90 (0.72–1.13)

54 obs / 60.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.94 (0.41–1.83)

0≤0.351.4

Missense OE?0.90 (0.72–1.13)

0≤0.61.4

Synonymous OE?0.78

0≤1.21.6

LoF obs/exp: 3 / 3.2Missense obs/exp: 54 / 60.2Syn Z: 0.84

ClinVar Variant Classifications

3 submitted variants in ClinVar

ClinVar

Classification Summary

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

Classification	LoF	Missense + Inframe	Non-coding	Synonymous
Pathogenic	—	—	—	—
Likely Pathogenic	—	—	—	—
VUS	—	—	—	—
Likely Benign	—	—	—	—
Benign	—	—	—	—
Total	—

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

35 pathogenic / likely-pathogenic (of 39) ClinVar copy-number / structural variants overlap C2ORF66 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →