CCDC80

Chr 3

coiled-coil domain containing 80

Also known as: CL2, DRO1, LINC01279, SSG1, URB, okuribin

NCBI Gene: 151887 ENSG00000091986 UniProt: Q76M96 OMIM: 608298

The CCDC80 protein promotes cell adhesion and matrix assembly through fibronectin and heparin binding activities in the extracellular matrix. Mutations cause autosomal recessive intellectual disability with short stature and behavioral abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.65).

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable fibronectin binding activity and heparin binding activity. Predicted to be involved in extracellular matrix organization and positive regulation of cell-substrate adhesion. Predicted to act upstream of or within response to bacterium. Predicted to be located in extracellular region; interstitial matrix; and membrane. Predicted to be active in basement membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 0.65

Clinical Summary— CCDC80

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

125 VUS of 150 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?

0.65LOEUF

pLI 0.000

Z-score 3.19

OE 0.42 (0.28–0.65)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.44Z-score

OE missense 0.95 (0.88–1.02)

522 obs / 551.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.42 (0.28–0.65)

0≤0.351.4

Missense OE?0.95 (0.88–1.02)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 15 / 35.5Missense obs/exp: 522 / 551.1Syn Z: -0.30

ClinVar Variant Classifications

150 submitted variants in ClinVar

ClinVar

Classification Summary

VUS125

Likely Benign13

Benign4

125

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	125	0	125
Likely Benign	11	2	13
Benign	2	2	4
Total	138	4	142

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

27 pathogenic / likely-pathogenic (of 32) ClinVar copy-number / structural variants overlap CCDC80 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →