COLGALT2

Chr 1

collagen beta(1-O)galactosyltransferase 2

Also known as: C1orf17, ColGalT 2, GLT25D2

NCBI Gene: 23127ENSG00000198756UniProt: Q8IYK4OMIM: 617533

Predicted to enable procollagen galactosyltransferase activity. Predicted to be involved in collagen fibril organization. Predicted to be located in endoplasmic reticulum lumen. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.92
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.92LOEUF
pLI 0.000
Z-score 1.94
OE 0.64 (0.45–0.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.81Z-score
OE missense 0.88 (0.80–0.96)
304 obs / 346.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.45–0.92)
0≤0.351.4
Missense OE?0.88 (0.80–0.96)
0≤0.61.4
Synonymous OE?0.92
0≤1.21.6
LoF obs/exp: 21 / 33.1Missense obs/exp: 304 / 346.5Syn Z: 0.75

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

COLGALT2 · 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