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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GALNT8
polypeptide N-acetylgalactosaminyltransferase 8
Chromosome 12 · 12p13.32
NCBI Gene: 26290Ensembl: ENSG00000130035.10HGNC: HGNC:4130UniProt: Q9NY28
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
polypeptide N-acetylgalactosaminyltransferase activityprotein O-linked glycosylationGolgi apparatusprotein O-linked glycosylation via N-acetyl-galactosamineventricular fibrillationcerebellar ataxiaSeizureHypermetropia
✦AI Summary

GALNT8 (polypeptide N-acetylgalactosaminyltransferase 8) catalyzes the initial step of O-linked oligosaccharide biosynthesis by transferring N-acetyl-D-galactosamine residues to serine or threonine residues on protein receptors, a process occurring in the Golgi apparatus 1. This glycosylation reaction is fundamental to protein post-translational modification and cellular function. In disease contexts, GALNT8 dysregulation associates with multiple pathologies. Missense mutations in GALNT8 are predicted to be highly deleterious and contribute to metabolic disorders including tumor calcinosis and hyperostosis-hyperphosphatemia syndrome 2. Paradoxically, GALNT8 expression patterns vary by cancer type: it acts as a tumor suppressor in breast cancer by suppressing EGFR O-GalNAcylation, thereby inhibiting epithelial-mesenchymal transition and metastatic potential 1. Conversely, GALNT8 overexpression driven by lncRNA GAU1 promotes colorectal and breast cancer progression through enhanced cell proliferation 3. In chr12 hepatitis C, GALNT8 variants affect interferon response by attenuating interferon-α-induced gene transcription 4. GALNT8 also associates with cortical thickness changes in Alzheimer's disease through protein-protein interactions with B4GALNT1 5. Clinically, GALNT8 expression levels serve as prognostic biomarkers and potential therapeutic targets across multiple cancers, with combined GALNT8/C1GALT1 overexpression predicting reduced survival in breast cancer patients 6.

Sources cited
1
GALNT8 catalyzes O-GalNAcylation and acts as a tumor suppressor in breast cancer by regulating EGFR glycosylation and inhibiting EMT
PMID: 35220009
2
GALNT8 missense mutations are predicted highly deleterious and associated with tumor calcinosis and hyperostosis-hyperphosphatemia
PMID: 24038392
3
GALNT8 overexpression driven by lncRNA GAU1 promotes colorectal cancer progression and correlates with poor prognosis
PMID: 34239555
4
GALNT8 variants affect response to interferon therapy in chronic hepatitis C by attenuating IFN-α-induced gene transcription
PMID: 23034592
5
GALNT8 interacts with B4GALNT1 in protein-protein networks associated with cortical thickness in Alzheimer's disease
PMID: 32310165
6
Combined GALNT8/C1GALT1 overexpression predicts reduced overall and recurrence-free survival in breast cancer patients
PMID: 25975956
Disease Associationsⓘ20
ventricular fibrillationOpen Targets
0.27Weak
Atypical behaviorOpen Targets
0.27Weak
cerebellar ataxiaOpen Targets
0.27Weak
epicanthal foldOpen Targets
0.27Weak
EpicanthusOpen Targets
0.27Weak
flatfootOpen Targets
0.27Weak
Focal-onset seizureOpen Targets
0.27Weak
Generalized-onset seizureOpen Targets
0.27Weak
HypermetropiaOpen Targets
0.27Weak
MacrocephalyOpen Targets
0.27Weak
Moderate global developmental delayOpen Targets
0.27Weak
SeizureOpen Targets
0.27Weak
Short philtrumOpen Targets
0.27Weak
genetic disorderOpen Targets
0.19Weak
Esophageal atresiaOpen Targets
0.11Weak
pyloric stenosisOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Barrett's esophagusOpen Targets
0.04Suggestive
retinoblastomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GALNTL6Shared pathway100%GALNT18Shared pathway100%GALNT15Shared pathway100%GALNT14Shared pathway100%GALNT17Shared pathway100%GALNT16Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
22%
Bone Marrow
7%
Ovary
5%
Liver
2%
Lung
2%
Gene Interaction Network
Click a node to explore
GALNT8GALNTL6GALNT18GALNT15GALNT14GALNT17GALNT16
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NY28
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.89 [0.67–1.20]
RankingsWhere GALNT8 stands among ~20K protein-coding genes
  • #15,565of 20,598
    Most Researched15
  • #12,564of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedGALNT8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings.
PMID: 24038392
J Cell Biochem · 2014
1.00
2
GALNT8 suppresses breast cancer cell metastasis potential by regulating EGFR O-GalNAcylation.
PMID: 35220009
Biochem Biophys Res Commun · 2022
0.90
3
Dynamic chromosomal tuning of a novel GAU1 lncing driver at chr12p13.32 accelerates tumorigenesis.
PMID: 29741668
Nucleic Acids Res · 2018
0.80
4
lncRNA GAU1 Induces GALNT8 Overexpression and Potentiates Colorectal Cancer Progression.
PMID: 34239555
Gastroenterol Res Pract · 2021
0.70
5
Clinically Significant Missense Variants in Human GALNT3, GALNT8, GALNT12, and GALNT13 Genes: Intriguing In Silico Findings. Muhammad Ramzan M. Hussain, Jamal Nasir, Jumana Yousuf Al-Aama.
PMID: 28792674
J Cell Biochem · 2017
0.60