A3GALT2 Gene - Alpha-1,3-Galactosyltransferase 2
Comprehensive genomic and functional analysis of A3GALT2, a glycosyltransferase involved in glycan biosynthesis.
Gene Information Card
| Symbol | A3GALT2 |
|---|---|
| Full Name | Alpha-1,3-Galactosyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 127550 ncbi.nlm.nih.gov/gene/127550 |
| Ensembl ID | ENSG00000184349 |
| UniProt ID | Q8N5P1 |
| OMIM ID | 610610 |
| HGNC ID | 30002 |
| Aliases | A3GALT2, alpha 1,3-galactosyltransferase 2, GT-A3GALT2 |
Description
A3GALT2 (alpha-1,3-galactosyltransferase 2) encodes a glycosyltransferase enzyme that catalyzes the transfer of galactose to glycoproteins and glycolipids, forming alpha-1,3-linked galactose residues. This gene is part of the glycosyltransferase family and is involved in glycan biosynthesis. It is located on chromosome 1p36.13 and is expressed in various tissues, with notable activity in the kidney and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not applicable | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Liver | 3.1 | Low |
| Brain | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | Moderate expression |
| HeLa | 6.5 | Low expression |
| K562 | 2.0 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown functional effect |
| c.250G>A (p.Gly84Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008378 - galactosyltransferase activity | • GO:0006486 - protein glycosylation |
| • GO:0016021 - integral component of membrane |
Pathways
• Glycosphingolipid biosynthesis - lacto and neolacto series (Reactome: R-HSA-1660661)
Protein Summary
The A3GALT2 protein is a type II membrane protein localized in the Golgi apparatus. It functions as a galactosyltransferase, adding galactose in an alpha-1,3 linkage to acceptor substrates. The enzyme is involved in the synthesis of glycan structures on glycoproteins and glycolipids, which play roles in cell-cell recognition and signaling. UniProt ID: Q8N5P1.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| A3GALT2 Knockout HEK293 Cell Line | EDJ-KQ8297 | Human | 127550 | Details Get a Quote |
| A3GALT2 Knockout HeLa Cell Line | EDJ-KQ58211 | Human | 127550 | Details Get a Quote |
| A3GALT2 Knockout A-549 Cell Line | EDJ-KQ66702 | Human | 127550 | Details Get a Quote |
| A3GALT2 Knockout HCT 116 Cell Line | EDJ-KQ75113 | Human | 127550 | Details Get a Quote |
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