COG3

Chr 13AR

component of oligomeric golgi complex 3

Also known as: CDG2BB, SEC34

NCBI Gene: 83548ENSG00000136152UniProt: Q96JB2

This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]

Primary Disease Associations & Inheritance

Congenital disorder of glycosylation, type IIbbMIM #620546
AR
0
Active trials
55
Pathogenic / LP
143
ClinVar variants
2
Pubs (1 yr)
1.6
Missense Z
0.21
LOEUF· LoF intolerant
Clinical Summary— COG3
🧬
Gene-Disease Validity (ClinGen)
congenital disorder of glycosylation · ARLimited

Limited evidence — not for standalone diagnostic reporting

⚡
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.
📋
ClinVar Variants
55 Pathogenic / Likely Pathogenic· 86 VUS of 143 total submissions

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

143 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic54
Likely Pathogenic1
VUS86
Likely Benign2
54
Pathogenic
1
Likely Pathogenic
86
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
54
0
54
Likely Pathogenic
0
0
1
0
1
VUS
0
83
3
0
86
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total085580143

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

View in ClinVar →

COG3 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
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