C2ORF66

Chr 2

chromosome 2 open reading frame 66

Also known as: IIDS6411, UNQ6411

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
LOEUF 1.83
Clinical SummaryC2ORF66
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.83LOEUF
pLI 0.007
Z-score 0.11
OE 0.94 (0.411.83)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.28Z-score
OE missense 0.90 (0.721.13)
54 obs / 60.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.94 (0.411.83)
00.351.4
Missense OE0.90 (0.721.13)
00.61.4
Synonymous OE0.78
01.21.6
LoF obs/exp: 3 / 3.2Missense obs/exp: 54 / 60.2Syn Z: 0.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C2ORF66 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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