COG3

Chr 13AR

component of oligomeric golgi complex 3

Also known as: CDG2BB, SEC34

NCBI Gene: 83548ENSG00000136152UniProt: Q96JB2OMIM: 606975

COG3 encodes a component of the conserved oligomeric Golgi complex that is essential for ER-Golgi transport and maintaining normal Golgi morphology and protein glycosylation. Mutations cause congenital disorder of glycosylation type IIbb with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants, indicating its critical importance in cellular function.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.211 OMIM phenotype
Clinical Summary— COG3
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Gene-Disease Validity (ClinGen)
congenital disorder of glycosylation · ARLimited

Limited evidence — not for standalone diagnostic reporting

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.21LOEUF
pLI 1.000
Z-score 5.84
OE 0.10 (0.05–0.21)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.57Z-score
OE missense 0.78 (0.72–0.86)
331 obs / 421.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.10 (0.05–0.21)
0≤0.351.4
Missense OE0.78 (0.72–0.86)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 5 / 49.2Missense obs/exp: 331 / 421.7Syn Z: 0.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COG3 · 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
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