COLGALT2
Collagen Beta(1-O)Galactosyltransferase 2
Gene Information Card
| Symbol | COLGALT2 |
|---|---|
| Full Name | Collagen Beta(1-O)Galactosyltransferase 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.3 |
| NCBI Gene ID | 23127 ncbi.nlm.nih.gov/gene/23127 |
| Ensembl ID | ENSG00000198756 |
| UniProt ID | Q8IYK4 |
| OMIM ID | 610308 |
| HGNC ID | 26164 |
| Aliases | GLT25D2, UNQ1881/PRO4324 |
Description
COLGALT2 encodes a beta(1-O)galactosyltransferase that catalyzes the transfer of galactose to hydroxylysine residues in collagen, a key step in collagen glycosylation. This modification is essential for proper collagen fibril assembly and extracellular matrix integrity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Lung | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK 293 | 10.8 | Embryonic kidney cells |
| A549 | 7.4 | Lung carcinoma cell line |
| MCF7 | 5.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | missense | 0.01% (gnomAD) | Unknown functional impact |
| c.567G>A (p.Trp189*) | nonsense | 0.001% (gnomAD) | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant p.Trp189* likely leads to nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • galactosyltransferase activity | • collagen binding |
| • endoplasmic reticulum lumen | • protein glycosylation |
| • extracellular matrix organization |
Pathways
• Collagen biosynthesis and modifying enzymes
• Protein glycosylation in the ER
Protein Summary
COLGALT2 is a 622-amino acid type II transmembrane protein localized to the endoplasmic reticulum. It contains a galactosyltransferase domain and is involved in the O-linked glycosylation of collagen hydroxylysine residues. The protein is widely expressed, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COLGALT2 Knockout HEK293 Cell Line | EDJ-KQ7842 | Human | 23127 | Details Get a Quote |
| COLGALT2 Knockout HeLa Cell Line | EDJ-KQ55691 | Human | 23127 | Details Get a Quote |
| COLGALT2 Knockout A-549 Cell Line | EDJ-KQ64190 | Human | 23127 | Details Get a Quote |
| COLGALT2 Knockout HCT 116 Cell Line | EDJ-KQ72634 | Human | 23127 | Details Get a Quote |
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