GALNT2 Chromosome 1
Polypeptide N-acetylgalactosaminyltransferase 2
Upload your DNA to see your personal genotypes for variants in GALNT2.
What This Gene Does
This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Gene Info
Gene Group
Polypeptide N-acetylgalactosaminyltransferases
Locus Type
gene with protein product
Location
1q42.13
Ensembl
ENSG00000143641
Associated Conditions (3)
Congenital disorder of glycosylation
type iit
Inborn genetic diseases
Key Variants
RS138909324
Conflicting classifications of pathogenicity
Health Risk
RS142046356
Conflicting classifications of pathogenicity
Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation
Health Risk
RS370362368
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1663960324
Likely pathogenic
Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation
Health Risk
RS2102741708
Likely pathogenic
Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation
Health Risk
RS2527616593
Likely pathogenic
Health Risk
RS376870425
Likely pathogenic
Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation
Health Risk
RS1431963909
Pathogenic
Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation
Health Risk
RS1663959543
Pathogenic
Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation
Health Risk
RS1665467473
Pathogenic
Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138909324 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142046356 | Health Risk | Conflicting classifications of pathogenicity | Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation |
| RS370362368 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1663960324 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation |
| RS2102741708 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation |
| RS2527616593 | Health Risk | Likely pathogenic | — |
| RS376870425 | Health Risk | Likely pathogenic | Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation |
| RS1431963909 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation |
| RS1663959543 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation |
| RS1665467473 | Health Risk | Pathogenic | Congenital disorder of glycosylation, type iit, Congenital disorder of glycosylation |