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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CHST12
carbohydrate sulfotransferase 12
Chromosome 7 · 7p22.3
NCBI Gene: 55501Ensembl: ENSG00000136213.11HGNC: HGNC:17423UniProt: Q9NRB3
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chondroitin sulfate proteoglycan biosynthetic processchondroitin 4-sulfotransferase activitymembranedermatan sulfate proteoglycan biosynthetic processhead and neck malignant neoplasiaglioblastoma multiformepancreatic adenocarcinomaBlount disease
✦AI Summary

CHST12 (carbohydrate sulfotransferase 12) catalyzes the transfer of sulfate to position 4 of N-acetylgalactosamine residues in chondroitin and dermatan sulfate, key components of proteoglycans in cartilage and extracellular matrices. The enzyme localizes to the Golgi membrane and uses 3'-phosphoadenosine 5'-phosphosulfate as a sulfate donor [UniProt annotation]. CHST12 expression patterns correlate with multiple disease states: elevated mRNA expression in pancreatic adenocarcinoma acts as a protective factor for overall survival 1, while high CHST12 expression in glioblastoma promotes cell proliferation and mobility through the WNT/β-catenin pathway, with knockdown significantly inhibiting these malignant phenotypes 2. In genetic studies, CHST12 variants associate with thinness-related polygenic risk scores affecting body weight regulation, with minor alleles showing higher expression in brain tissue 3. CHST12 mutations accumulate in thrombotic storm patients, suggesting potential roles in regulating endothelial cell-protective chondroitin sulfate metabolism 4. Additionally, CHST12 downregulation in a hypertension rat model correlates with elevated blood pressure and renal pathology 5, while differential CHST12 expression in cerebrospinal fluid shows promise as a biomarker for distinguishing progressive supranuclear palsy from other neurodegenerative diseases 6. DNA methylation at the CHST12 locus predicts increased mortality risk in population studies 7.

Sources cited
1
CHST12 mRNA upregulation in pancreatic adenocarcinoma acts as a protective factor for overall survival and may regulate immune cell infiltration
PMID: 38333724
2
CHST12 is upregulated in glioblastoma; knockdown decreases proliferation and mobility via WNT/β-catenin pathway inhibition
PMID: 34288811
3
CHST12 variants (rs2906173) associate with thinness-related polygenic risk scores and body weight regulation with brain tissue expression
PMID: 36632775
4
CHST12 variants accumulate in thrombotic storm patients, suggesting role in chondroitin sulfate metabolism affecting endothelial protection
PMID: 29178990
5
CHST12 downregulation in hypertensive rat model correlates with elevated blood pressure and renal pathology
PMID: 25001272
6
CHST12 differential expression in cerebrospinal fluid serves as potential biomarker for progressive supranuclear palsy
PMID: 39342078
7
DNA methylation at CHST12 locus (cg12619262) associates with increased mortality risk
PMID: 32697766
8
CHST12 overexpression is unfavorable prognostic factor in glioblastoma and pancreatic cancer
PMID: 37545696
Disease Associationsⓘ20
head and neck malignant neoplasiaOpen Targets
0.16Weak
glioblastoma multiformeOpen Targets
0.08Suggestive
pancreatic adenocarcinomaOpen Targets
0.07Suggestive
Blount diseaseOpen Targets
0.07Suggestive
Absent tibia - polydactylyOpen Targets
0.06Suggestive
tibia, hypoplasia or aplasia of, with polydactylyOpen Targets
0.06Suggestive
coxopodopatellar syndromeOpen Targets
0.06Suggestive
AcheiropodiaOpen Targets
0.06Suggestive
tibial hemimeliaOpen Targets
0.05Suggestive
Hypoplastic tibiae - postaxial polydactylyOpen Targets
0.05Suggestive
Fibular aplasia - ectrodactylyOpen Targets
0.05Suggestive
fibular aplasia-ectrodactyly syndromeOpen Targets
0.05Suggestive
Acromesomelic dysplasia, Hunter-Thomson typeOpen Targets
0.05Suggestive
Tibial aplasia - ectrodactylyOpen Targets
0.05Suggestive
Acromesomelic dysplasia, Grebe typeOpen Targets
0.05Suggestive
hip dysplasia, Beukes typeOpen Targets
0.05Suggestive
metaphyseal anadysplasiaOpen Targets
0.05Suggestive
familial clubfoot due to 17q23.1q23.2 microduplicationOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
acromesomelic dysplasia 2BOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CHST11Protein interaction87%CHST3Protein interaction81%CHST7Protein interaction81%CHST13Protein interaction81%CHST15Protein interaction66%CHST14Shared pathway60%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
81%
Ovary
75%
Brain
69%
Heart
67%
Liver
56%
Gene Interaction Network
Click a node to explore
CHST12CHST11CHST3CHST7CHST13CHST15CHST14
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NRB3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.79 [0.57–1.12]
RankingsWhere CHST12 stands among ~20K protein-coding genes
  • #12,529of 20,598
    Most Researched27
  • #11,578of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedCHST12
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Biomarker discovery in progressive supranuclear palsy from human cerebrospinal fluid.
PMID: 39342078
Clin Proteomics · 2024
1.00
2
CHST12: a potential prognostic biomarker related to the immunotherapy response in pancreatic adenocarcinoma.
PMID: 38333724
Front Endocrinol (Lausanne) · 2023
0.90
3
Carbohydrate sulfotransferases: a review of emerging diagnostic and prognostic applications.
PMID: 37545696
Biochem Med (Zagreb) · 2023
0.80
4
Interaction of environmental factors with the polygenic risk scores of thinness-related genes in preventing obesity risk in middle-aged adults: The KoGES.
PMID: 36632775
J Hum Nutr Diet · 2023
0.70
5
Knockdown of carbohydrate sulfotransferase 12 decreases the proliferation and mobility of glioblastoma cells via the WNT/β-catenin pathway.
PMID: 34288811
Bioengineered · 2021
0.60