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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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GALNT13
polypeptide N-acetylgalactosaminyltransferase 13
Chromosome 2 · 2q23.3
NCBI Gene: 114805Ensembl: ENSG00000144278.16HGNC: HGNC:23242UniProt: A0A1L4BJA8
32PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
polypeptide N-acetylgalactosaminyltransferase activityprotein O-linked glycosylation via N-acetyl-galactosamineprotein O-linked glycosylationGolgi apparatusmathematical abilityConstipationschizophreniaschizoaffective disorder
✦AI Summary

GALNT13 (polypeptide N-acetylgalactosaminyltransferase 13) is a Golgi-localized glycosyltransferase that catalyzes O-linked glycosylation by transferring N-acetylgalactosamine (GalNAc) to serine and threonine residues in mucin-type proteins 1. The enzyme can glycosylate both unmodified peptides and pre-glycosylated substrates, including MUC5AC, demonstrating sequential glycosylation capacity. GALNT13 is specifically expressed in pineal gland tissue, where a primate-specific long terminal repeat retrotransposon serves as its promoter 1. In disease contexts, GALNT13 dysregulation associates with multiple pathologies: damaging variants (R185C, L405Q) located in the substrate-binding site are linked to familial glioma susceptibility in a polygenic inheritance pattern 2. The gene is upregulated as a molecular marker of bone marrow dissemination in stage 4 neuroblastoma, with GALNT13 expression correlating strongly with poor clinical outcomes and minimal residual disease 3. Additionally, genome-wide association studies identified GALNT13 variants associated with melatonin secretion levels 4 and athletic performance 5. In silico analyses predict that missense mutations in GALNT13 cause significant functional impairment and disease susceptibility 6. GALNT13 deletion (2q23.3q24.1) contributes to neurological involvement in genomic disorders 7.

Sources cited
1
GALNT13 is expressed in pineal gland with LTR promoter; initiates O-linked glycosylation
PMID: 34675070
2
GALNT13 variants (R185C, L405Q) in substrate-binding site associated with familial glioma
PMID: 38773237
3
GALNT13 upregulated in neuroblastoma bone marrow metastasis; marks disease progression and poor outcome
PMID: 16873292
4
GALNT13 associated with melatonin secretion in genome-wide association study
PMID: 35577822
5
GALNT13 rs10196189 variant identified in athletes through GWAS
PMID: 26231489
6
In silico analysis predicts clinically significant GALNT13 mutations cause functional impairment
PMID: 24038392
7
GALNT13 deletion in 2q23.3q24.1 microdeletion associated with neurological involvement
PMID: 25174267
Disease Associationsⓘ20
mathematical abilityOpen Targets
0.43Moderate
ConstipationOpen Targets
0.37Weak
schizophreniaOpen Targets
0.32Weak
schizoaffective disorderOpen Targets
0.32Weak
smoking initiationOpen Targets
0.32Weak
hypertensionOpen Targets
0.31Weak
ApneaOpen Targets
0.31Weak
VertigoOpen Targets
0.28Weak
cervical carcinomaOpen Targets
0.27Weak
corneal neovascularizationOpen Targets
0.25Weak
response to xenobiotic stimulusOpen Targets
0.25Weak
information processing speedOpen Targets
0.25Weak
major depressive disorderOpen Targets
0.25Weak
glomerulonephritisOpen Targets
0.24Weak
thyroiditisOpen Targets
0.23Weak
migraine disorderOpen Targets
0.22Weak
Abruptio PlacentaeOpen Targets
0.19Weak
malunion fractureOpen Targets
0.18Weak
Zimmermann-Laband syndrome 3Open Targets
0.15Weak
hypersomniaOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GALNT4Shared pathway100%GALNT6Shared pathway100%GALNT9Shared pathway100%GALNT10Shared pathway100%GALNT16Shared pathway100%GALNT17Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
9%
Ovary
7%
Heart
2%
Bone Marrow
1%
Liver
0%
Gene Interaction Network
Click a node to explore
GALNT13GALNT4GALNT6GALNT9GALNT10GALNT16GALNT17
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8IUC8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.73LoF Tolerant
pLIⓘ
0.05Tolerant
Observed/Expected LoF0.47 [0.31–0.73]
RankingsWhere GALNT13 stands among ~20K protein-coding genes
  • #11,519of 20,598
    Most Researched32
  • #5,748of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedGALNT13
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
Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland.
PMID: 38773237
Sci Rep · 2024
0.90
3
Current Progress in Sports Genomics.
PMID: 26231489
Adv Clin Chem · 2015
0.80
4
A genome-wide association study for melatonin secretion.
PMID: 35577822
Sci Rep · 2022
0.70
5
Embryonic LTR retrotransposons supply promoter modules to somatic tissues.
PMID: 34675070
Genome Res · 2021
0.60