CSGALNACT2: Chondroitin Sulfate N-Acetylgalactosaminyltransferase 2
A key enzyme in glycosaminoglycan biosynthesis, involved in chondroitin sulfate chain elongation and implicated in developmental and neoplastic processes.
Gene Information Card
| Symbol | CSGALNACT2 |
|---|---|
| Full Name | Chondroitin Sulfate N-Acetylgalactosaminyltransferase 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q11.21 |
| NCBI Gene ID | 55454 ncbi.nlm.nih.gov/gene/55454 |
| Ensembl ID | ENSG00000120063 |
| UniProt ID | Q8N6G5 |
| OMIM ID | 616882 |
| HGNC ID | 24290 |
| Aliases | CHGN2, CSGalNAcT-2, GALNACT2 |
Description
CSGALNACT2 encodes chondroitin sulfate N-acetylgalactosaminyltransferase 2, a Golgi membrane-bound enzyme that transfers N-acetylgalactosamine (GalNAc) to the growing chondroitin sulfate chain during glycosaminoglycan biosynthesis. This enzyme is essential for the elongation of chondroitin sulfate, a major component of the extracellular matrix involved in cell signaling, development, and tissue homeostasis. CSGALNACT2 is expressed in multiple tissues and has been linked to skeletal development, cancer progression, and other pathological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chondrodysplasia | Deficient chondroitin sulfate elongation due to loss-of-function mutations leads to abnormal skeletal development. | OMIM #616882; PMID: 25466290 |
| Colorectal cancer | Altered CSGALNACT2 expression affects tumor cell proliferation and invasion via modulation of extracellular matrix. | COSMIC; PMID: 25944712 |
| Breast cancer | Upregulation of CSGALNACT2 correlates with poor prognosis and metastatic potential. | COSMIC; PMID: 27149842 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Lung | 9.8 | Low |
| Colon | 18.7 | Medium |
| Breast | 14.0 | Medium |
| Ovary | 11.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | High expression |
| HeLa | 15.1 | Medium expression |
| MCF7 | 19.8 | Medium-high expression |
| HCT116 | 17.3 | Medium expression |
| A549 | 12.6 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339*) | Nonsense | <0.01% | Premature stop; loss of catalytic domain |
| c.742G>A (p.Gly248Arg) | Missense | <0.01% | Reduced enzyme activity |
| c.1234_1235insA (p.Thr412Asnfs*5) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg339*, p.Thr412Asnfs*5) result in truncated, non-functional enzyme, impairing chondroitin sulfate elongation.
Gain of Function (GOF)
No gain-of-function mutations have been reported in CSGALNACT2.
Dominant Negative (DN)
No dominant-negative mutations have been described for CSGALNACT2.
View complete mutation data：
Gene Ontology (GO)
| • acetylgalactosaminyltransferase activity (GO:0008376) | • galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018) |
| • chondroitin sulfate biosynthetic process (GO:0030206) | • Golgi apparatus (GO:0005794) |
| • integral component of membrane (GO:0016021) |
Pathways
• Chondroitin sulfate / dermatan sulfate biosynthesis (Reactome: R-HSA-1971475)
• Glycosaminoglycan metabolism (KEGG: hsa00532)
Protein Summary
CSGALNACT2 is a type II transmembrane protein localized to the Golgi apparatus. It catalyzes the transfer of N-acetylgalactosamine from UDP-GalNAc to the non-reducing end of chondroitin sulfate chains, a critical step in chain elongation. The protein contains a conserved glycosyltransferase domain (GT-A fold) and a stem region that anchors it to the Golgi membrane. Its activity is essential for the synthesis of functional chondroitin sulfate proteoglycans, which modulate cell adhesion, migration, and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CSGALNACT2 Knockout HEK293 Cell Line | EDJ-KQ13014 | Human | 55454 | Details Get a Quote |
| CSGALNACT2 Knockout HeLa Cell Line | EDJ-KQ41034 | Human | 55454 | Details Get a Quote |
| CSGALNACT2 Knockout A-549 Cell Line | EDJ-KQ42274 | Human | 55454 | Details Get a Quote |
| CSGALNACT2 Knockout HCT 116 Cell Line | EDJ-KQ42275 | Human | 55454 | Details Get a Quote |
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