CHST9: Carbohydrate Sulfotransferase 9
Gene encoding a sulfotransferase involved in carbohydrate modification and potential roles in cancer and development.
Gene Information Card
| Symbol | CHST9 |
|---|---|
| Full Name | Carbohydrate Sulfotransferase 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q11.2 |
| NCBI Gene ID | 83539 ncbi.nlm.nih.gov/gene/83539 |
| Ensembl ID | ENSG00000141480 |
| UniProt ID | Q7L1S5 |
| OMIM ID | 610191 |
| HGNC ID | 19898 |
| Aliases | GALNAC4ST-2, GalNAc4ST2, MGC:26856 |
Description
CHST9 (Carbohydrate Sulfotransferase 9) encodes a member of the sulfotransferase family that catalyzes the transfer of sulfate to carbohydrate groups, specifically N-acetylgalactosamine (GalNAc) residues. This enzyme is involved in the biosynthesis of sulfated glycoconjugates, which play roles in cell-cell interactions, signaling, and tumor progression. The gene is located on chromosome 18q11.2 and is expressed in various tissues, with notable levels in the brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression of CHST9 may affect sulfation patterns on glycoproteins and glycolipids, influencing tumor cell adhesion and metastasis. | COSMIC database reports mutations and expression changes in multiple cancer types. |
| Developmental disorders | Potential role in neural development due to expression in brain; specific mechanisms not fully elucidated. | Limited evidence from expression studies; no direct OMIM disease association. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Testis | 6.2 | Medium |
| Kidney | 3.1 | Low |
| Lung | 2.8 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.3 | Embryonic kidney cells |
| SH-SY5Y | 7.1 | Neuroblastoma cell line |
| A549 | 2.9 | Lung carcinoma cells |
| HepG2 | 1.2 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100G>A (p.Gly34Arg) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.452C>T (p.Pro151Leu) | Missense | 0.005% (gnomAD) | Predicted possibly damaging (PolyPhen-2) |
| c.789_790insA | Frameshift | Rare (COSMIC) | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense variants likely lead to truncated or absent protein, reducing sulfotransferase activity.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001517) | • Golgi apparatus (GO:0005794) |
| • sulfur compound metabolic process (GO:0006790) | • peptide sulfation (GO:0018149) |
Pathways
• Sulfation of glycans (Reactome: R-HSA-3560782)
• Metabolism of carbohydrates (Reactome: R-HSA-71387)
Protein Summary
CHST9 is a 424-amino acid type II transmembrane protein localized to the Golgi apparatus. It functions as a sulfotransferase that transfers sulfate from 3'-phosphoadenosine 5'-phosphosulfate (PAPS) to the 4-hydroxyl group of N-acetylgalactosamine (GalNAc) on glycoproteins and glycolipids. This modification is critical for the biosynthesis of sulfated glycoconjugates such as chondroitin sulfate and dermatan sulfate, which are involved in extracellular matrix organization and cell signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHST9 Knockout HEK293 Cell Line | EDJ-KQ9855 | Human | 83539 | Details Get a Quote |
| CHST9 Knockout HeLa Cell Line | EDJ-KQ57446 | Human | 83539 | Details Get a Quote |
| CHST9 Knockout A-549 Cell Line | EDJ-KQ65950 | Human | 83539 | Details Get a Quote |
| CHST9 Knockout HCT 116 Cell Line | EDJ-KQ74374 | Human | 83539 | Details Get a Quote |
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