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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CSGALNACT2
chondroitin sulfate N-acetylgalactosaminyltransferase 2
Chromosome 10 · 10q11.21
NCBI Gene: 55454Ensembl: ENSG00000169826.9HGNC: HGNC:24292UniProt: A0A0S2Z5F5
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingacetylgalactosaminyltransferase activityproteoglycan biosynthetic processchondroitin sulfate proteoglycan biosynthetic processAbnormality of the skeletal systemInguinal herniatenosynovitisgram-positive bacterial infections
✦AI Summary

CSGALNACT2 is a Golgi-resident glycosyltransferase that catalyzes the transfer of N-acetylgalactosamine (GalNAc) to glucuronic acid, playing a critical role in chondroitin and dermatan sulfate proteoglycan biosynthesis 1. The enzyme is essential for initiating the first GalNAc addition to the core tetrasaccharide linker and for chain elongation during glycosaminoglycan synthesis. In developmental contexts, CSGALNACT2 redundantly functions with CSGALNACT1A; double mutants (csgalnact1a-/-;csgalnact2-/-) show significantly enhanced craniofacial defects compared to single mutants, indicating cooperative roles in craniofacial development 1. Beyond development, CSGALNACT2 acts as a tumor suppressor in ovarian cancer: its expression is downregulated in malignant tissues, and restoration inhibits cancer cell migration and invasion via DUSP1-mediated suppression of MAPK/ERK signaling 2. CSGALNACT2 exhibits prognostic value and correlates with immune cell infiltration patterns in ovarian cancer 2. Additionally, genetic studies identify CSGALNACT2 as a causal risk factor for Hirschsprung disease 3 and vitiligo 4, suggesting pleiotropic roles in developmental and autoimmune pathophysiology. The gene's expression is modulated by exogenous chondroitin sulfates 5, indicating potential feedback regulation of GAG biosynthesis.

Sources cited
1
CSGALNACT2 is essential for chondroitin/dermatan sulfate proteoglycan biosynthesis and craniofacial development; redundant function with CSGALNACT1A
PMID: 35192612
2
CSGALNACT2 is downregulated in ovarian cancer and suppresses cancer migration/invasion via DUSP1-MAPK/ERK pathway; acts as tumor suppressor with prognostic value
PMID: 38082211
3
CSGALNACT2 is part of the RET-CSGALNACT2-RASGEF1A genomic region associated with Hirschsprung disease susceptibility
PMID: 25310821
4
CSGALNACT2 is causally associated with vitiligo risk as identified through proteome-wide Mendelian randomization
PMID: 40856249
5
Exogenous chondroitin sulfates from cartilaginous fish increase CSGALNACT2 expression in adipocytes
PMID: 40063299
6
CSGALNACT2 splicing variants are associated with Tourette's syndrome and linked to immune function
PMID: 35354918
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.54Moderate
Inguinal herniaOpen Targets
0.50Moderate
tenosynovitisOpen Targets
0.35Weak
gram-positive bacterial infectionsOpen Targets
0.29Weak
Hirschsprung diseaseOpen Targets
0.26Weak
Abnormal pupillary functionOpen Targets
0.09Suggestive
insomniaOpen Targets
0.08Suggestive
ovarian cancerOpen Targets
0.07Suggestive
HerniaOpen Targets
0.04Suggestive
obesityOpen Targets
0.03Suggestive
gastric ulcerOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
corneal neovascularizationOpen Targets
0.02Suggestive
heart failureOpen Targets
0.02Suggestive
atherosclerosisOpen Targets
0.02Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
cardiac hypertrophyOpen Targets
0.01Suggestive
readingOpen Targets
0.01Suggestive
oral squamous cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
B3GAT3Protein interaction97%CHSY1Protein interaction94%CSGALNACT1Protein interaction81%CHPF2Protein interaction71%CHST7Protein interaction70%CHPFProtein interaction68%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
64%
Ovary
33%
Brain
29%
Heart
22%
Liver
17%
Gene Interaction Network
Click a node to explore
CSGALNACT2B3GAT3CHSY1CSGALNACT1CHPF2CHST7CHPF
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8N6G5
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.64 [0.47–0.89]
RankingsWhere CSGALNACT2 stands among ~20K protein-coding genes
  • #11,492of 20,598
    Most Researched32
  • #7,917of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedCSGALNACT2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Chondroitin/dermatan sulfate glycosyltransferase genes are essential for craniofacial development.
PMID: 35192612
PLoS Genet · 2022
1.00
2
CSGALNACT2 restricts ovarian cancer migration and invasion by modulating MAPK/ERK pathway through DUSP1.
PMID: 38082211
Cell Oncol (Dordr) · 2024
0.90
3
Identification of Proteomic Biomarkers and Therapeutic Targets for Vitiligo Using a Two-Sample Proteome-Wide Mendelian Randomization Approach.
PMID: 40856249
J Cosmet Dermatol · 2025
0.80
4
A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.
PMID: 25310821
PLoS One · 2014
0.70
5
Cartilaginous fishes-derived chondroitin sulfates potentially suppress lipid droplet accumulation in the differentiated 3T3-L1 adipocytes.
PMID: 40063299
Glycoconj J · 2025
0.60