COG6

Chr 13

component of oligomeric golgi complex 6

Also known as: CDG2L, COD2, SHNS

NCBI Gene: 57511ENSG00000133103UniProt: Q9Y2V7

This gene encodes a subunit of the conserved oligomeric Golgi complex that is required for maintaining normal structure and activity of the Golgi apparatus. The encoded protein is organized with conserved oligomeric Golgi complex components 5, 7 and 8 into a sub-complex referred to as lobe B. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Feb 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 2L
UniProtShaheen syndrome

Clinical highlights

Gene-disease validity (ClinGen)
COG6-congenital disorder of glycosylation · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.02
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.02LOEUF
pLI 0.000
Z-score 1.46
OE 0.75 (0.56–1.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.18Z-score
OE missense 1.03 (0.94–1.12)
371 obs / 361.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.75 (0.56–1.02)
0≤0.351.4
Missense OE?1.03 (0.94–1.12)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 29 / 38.8Missense obs/exp: 371 / 361.2Syn Z: 0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COG6 · 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 →

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