GALNT3 Chromosome 2
Polypeptide N-acetylgalactosaminyltransferase 3
Upload your DNA to see your personal genotypes for variants in GALNT3.
What This Gene Does
This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Polypeptide N-acetylgalactosaminyltransferases
Locus Type
gene with protein product
Location
2q24.3
Ensembl
ENSG00000115339
Associated Conditions (8)
Tumoral calcinosis
hyperphosphatemic
familial
1
Inborn genetic diseases
GALNT3-related disorder
Familial cancer of breast
Malignant tumor of urinary bladder
Key Variants
RS1041076405
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS139145525
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS143647583
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS144776270
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS146978168
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS149612790
Conflicting classifications of pathogenicity
Health Risk
RS150682922
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS201497875
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS376963628
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS749981979
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS753659298
Conflicting classifications of pathogenicity
Tumoral calcinosis, hyperphosphatemic, familial
Health Risk
RS766232837
Conflicting classifications of pathogenicity
Health Risk
All Variants (68)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2467871068 | Health Risk | Pathogenic | — |
| RS2467875895 | Health Risk | Pathogenic | — |
| RS2467890308 | Health Risk | Pathogenic | — |
| RS267606841 | Health Risk | Pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS375879489 | Health Risk | Pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS745655924 | Health Risk | Pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS760830864 | Health Risk | Pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS764730691 | Health Risk | Pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS766750282 | Health Risk | Pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS774681591 | Health Risk | Pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS775341386 | Health Risk | Pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS786205250 | Health Risk | Pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS1204063782 | Health Risk | Pathogenic/Likely pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS2467889965 | Health Risk | Pathogenic/Likely pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS571016917 | Health Risk | Pathogenic/Likely pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS761396172 | Health Risk | Pathogenic/Likely pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS762936774 | Health Risk | Pathogenic/Likely pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |
| RS776322512 | Health Risk | Pathogenic/Likely pathogenic | Tumoral calcinosis, hyperphosphatemic, familial |