CHST12: Carbohydrate Sulfotransferase 12
A key enzyme in chondroitin sulfate biosynthesis and potential cancer biomarker
Gene Information Card
| Symbol | CHST12 |
|---|---|
| Full Name | Carbohydrate Sulfotransferase 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 55501 ncbi.nlm.nih.gov/gene/55501 |
| Ensembl ID | ENSG00000106384 |
| UniProt ID | Q9NRB3 |
| OMIM ID | 610129 |
| HGNC ID | 25626 |
| Aliases | C4S-2, C4ST-2, C4ST2, ChGn-2, chondroitin 4-sulfotransferase 2 |
Description
CHST12 encodes carbohydrate sulfotransferase 12, an enzyme that catalyzes the transfer of sulfate to position 4 of N-acetylgalactosamine (GalNAc) residues in chondroitin sulfate. This sulfation is critical for the biosynthesis of chondroitin sulfate glycosaminoglycans, which are involved in cell signaling, matrix organization, and development. CHST12 is also known as chondroitin 4-sulfotransferase 2 (C4ST-2).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteoarthritis | Altered chondroitin sulfate sulfation may affect cartilage integrity | PMID: 23431279 |
| Colorectal cancer | Overexpression of CHST12 linked to tumor progression and poor prognosis | PMID: 28411363 |
| Breast cancer | CHST12 expression associated with metastasis and reduced survival | PMID: 29511329 |
| Prostate cancer | Upregulation of CHST12 in aggressive subtypes | PMID: 30150772 |
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 | 14.3 | Medium |
| Prostate | 20.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 16.5 | Cervical cancer cell line |
| MCF7 | 22.3 | Breast cancer cell line |
| HCT116 | 19.8 | Colorectal cancer cell line |
| PC3 | 25.1 | Prostate cancer cell line |
| A549 | 11.2 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | Missense | <0.01% | Unknown functional impact |
| c.487G>A (p.Gly163Arg) | Missense | <0.01% | Potential loss of sulfotransferase activity |
| c.832_833del (p.Leu278fs) | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Leu278fs) likely result in truncated, non-functional protein.
Gain of Function (GOF)
No gain-of-function mutations reported in CHST12.
Dominant Negative (DN)
No dominant-negative mutations described for CHST12.
View complete mutation data：
Gene Ontology (GO)
| • N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0001517) | • N-acetylglucosamine metabolic process (GO:0006044) |
| • glycosaminoglycan biosynthetic process (GO:0006024) | • sulfotransferase activity (GO:0008146) |
| • heparan sulfate proteoglycan biosynthetic process (GO:0015014) | • glycosaminoglycan metabolic process (GO:0030203) |
| • chondroitin sulfate biosynthetic process (GO:0030206) | • chondroitin sulfate catabolic process (GO:0030207) |
| • intracellular membrane-bounded organelle (GO:0043231) | • extracellular exosome (GO:0070062) |
Pathways
• Chondroitin sulfate / dermatan sulfate biosynthesis (Reactome: R-HSA-1793185)
• Glycosaminoglycan metabolism (KEGG: hsa00532)
• Sulfur metabolism (KEGG: hsa00920)
• Proteoglycans in cancer (KEGG: hsa05205)
Protein Summary
CHST12 encodes a 432-amino acid type II transmembrane protein localized to the Golgi apparatus. It transfers sulfate from 3'-phosphoadenosine-5'-phosphosulfate (PAPS) to position 4 of GalNAc residues in chondroitin sulfate. The enzyme is essential for the formation of chondroitin-4-sulfate, a major component of extracellular matrix. CHST12 is widely expressed, with highest levels in brain, colon, and prostate. Overexpression in several cancers suggests a role in tumor progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHST12 Knockout HEK293 Cell Line | EDJ-KQ12920 | Human | 55501 | Details Get a Quote |
| CHST12 Knockout A-549 Cell Line | EDJ-KQ42125 | Human | 55501 | Details Get a Quote |
| CHST12 Knockout HCT 116 Cell Line | EDJ-KQ42126 | Human | 55501 | Details Get a Quote |
| CHST12 Knockout HeLa Cell Line | EDJ-KQ42127 | Human | 55501 | Details Get a Quote |
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