HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
COLGALT2
collagen beta(1-O)galactosyltransferase 2
Chromosome 1 · 1q25.3
NCBI Gene: 23127Ensembl: ENSG00000198756.12HGNC: HGNC:16790UniProt: A0A3B3IT37
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingprocollagen galactosyltransferase activitycollagen fibril organizationendoplasmic reticulum lumenosteoarthritis, hiposteoarthritisosteoarthritis, kneemedical procedure
✦AI Summary

COLGALT2 encodes collagen beta(1-O)galactosyltransferase 2, a key enzyme that initiates collagen glycosylation by transferring β-galactose to hydroxylysine residues 1. The enzyme operates in the endoplasmic reticulum alongside COLGALT1 to catalyze the first step of collagen post-translational modification, which is essential for proper collagen fibril organization and extracellular matrix function 12. COLGALT2 glycosylates various collagen types, with basement membrane collagen type IV being more extensively modified than fibrillar collagens 1. The enzyme's activity influences collagen secretion, fibril alignment, and mechanical properties 2. Disease-wise, COLGALT2 variants have been associated with osteoarthritis susceptibility through epigenetic regulation mechanisms 34, and mutations may contribute to connective tissue disorders like rectal prolapse 5. Clinically, COLGALT2 serves as a target for multiple independent osteoarthritis risk loci that modulate its expression through DNA methylation changes in tissue-specific enhancers 64. The gene also shows prognostic significance in various cancers, including nephroblastoma and colorectal cancer 78.

Sources cited
1
COLGALT2 transfers beta-galactose to hydroxylysine residues and initiates collagen glycosylation in the endoplasmic reticulum
PMID: 30822656
2
COLGALT2 influences collagen secretion, fibril alignment, and is involved in collagen post-translational modification
PMID: 38611696
3
COLGALT2 is targeted by osteoarthritis risk loci through epigenetic mechanisms involving DNA methylation
PMID: 36538011
4
rs11583641 genotype correlates with DNA methylation and COLGALT2 expression in cartilage
PMID: 33760386
5
COLGALT2 mutations may contribute to connective tissue disorders like rectal prolapse
PMID: 35409030
6
COLGALT2 shows tissue-specific opposite functional effects in joint tissues
PMID: 37208701
7
COLGALT2 has prognostic significance in nephroblastoma
PMID: 40574709
8
COLGALT2 is part of glyco-risk prediction models in colorectal cancer
PMID: 36757621
Disease Associationsⓘ20
osteoarthritis, hipOpen Targets
0.55Moderate
osteoarthritisOpen Targets
0.52Moderate
osteoarthritis, kneeOpen Targets
0.52Moderate
medical procedureOpen Targets
0.50Moderate
total joint arthroplastyOpen Targets
0.46Moderate
total hip arthroplastyOpen Targets
0.35Weak
vertebral joint diseaseOpen Targets
0.31Weak
Back painOpen Targets
0.30Weak
schizophreniaOpen Targets
0.30Weak
type 2 diabetes mellitusOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.21Weak
diabetes mellitusOpen Targets
0.12Weak
VertigoOpen Targets
0.12Weak
vestibular diseaseOpen Targets
0.12Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
osteosarcomaOpen Targets
0.08Suggestive
smoking behaviorOpen Targets
0.07Suggestive
prostate carcinomaOpen Targets
0.07Suggestive
ovarian neoplasmOpen Targets
0.04Suggestive
neoplasmOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DPTShared pathway100%FMODShared pathway100%P4HA1Shared pathway100%LOXL4Shared pathway100%COL9A2Protein interaction96%COL13A1Protein interaction96%
Tissue Expression6 tissues
Brain
100%
Heart
76%
Bone Marrow
21%
Lung
15%
Ovary
6%
Liver
1%
Gene Interaction Network
Click a node to explore
COLGALT2DPTFMODP4HA1LOXL4COL9A2COL13A1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IYK4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.46–0.80]
RankingsWhere COLGALT2 stands among ~20K protein-coding genes
  • #11,889of 20,598
    Most Researched30
  • #6,660of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedCOLGALT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Collagen glycosylation.
PMID: 30822656
Curr Opin Struct Biol · 2019
1.00
2
Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk-Conferring Alleles on a Shared Target Gene, COLGALT2.
PMID: 36538011
Arthritis Rheumatol · 2023
0.90
3
Identification and In Silico Characterization of a Novel
PMID: 35409030
Int J Mol Sci · 2022
0.80
4
Glycosylation Modulates the Structure and Functions of Collagen: A Review.
PMID: 38611696
Molecules · 2024
0.70
5
Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues.
PMID: 37208701
Arthritis Res Ther · 2023
0.60