COG5

Chr 7AR

component of oligomeric golgi complex 5

Also known as: CDG2I, GOLTC1, GTC90

NCBI Gene: 10466ENSG00000164597UniProt: Q9UP83OMIM: 606821

COG5 encodes a component of the conserved oligomeric Golgi (COG) complex that is required for normal Golgi morphology and function as part of the cellular protein glycosylation machinery. Mutations cause congenital disorder of glycosylation type IIi, inherited in an autosomal recessive pattern. This gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.961 OMIM phenotype
Clinical Summary— COG5
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Gene-Disease Validity (ClinGen)
COG5-congenital disorder of glycosylation · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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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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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.96LOEUF
pLI 0.000
Z-score 1.75
OE 0.73 (0.56–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.48Z-score
OE missense 1.06 (0.99–1.15)
492 obs / 462.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.73 (0.56–0.96)
0≤0.351.4
Missense OE1.06 (0.99–1.15)
0≤0.61.4
Synonymous OE1.20
0≤1.21.6
LoF obs/exp: 37 / 50.4Missense obs/exp: 492 / 462.7Syn Z: -2.00

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COG5 · 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

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia.
Yang Q et al.·Mol Genet Genomic Med
2026Open Access
COG5 deficiency disrupts cellular copper homeostasis and underlies the impaired mitochondrial OXPHOS function.
Zhou Y et al.·PLoS Genet
2026Open Access
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.
Khabou B et al.·J Hum Genet
2024
Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay.
Wang YC et al.·Mol Genet Metab Rep
2024Open Access
The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant.
Buyukdogan M et al.·Mol Syndromol
2023
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients