MGAT2 Chromosome 14
Alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
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What This Gene Does
The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Mannosyl-glycoprotein N-acetylglucosaminyltransferases
Locus Type
gene with protein product
Location
14q21.3
Ensembl
ENSG00000168282
Associated Conditions (6)
MGAT2-congenital disorder of glycosylation
Inborn genetic diseases
MGAT2-related disorder
Abnormal glycosylation
Abnormal facial shape
Global developmental delay
Key Variants
RS111486860
Conflicting classifications of pathogenicity
MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation
Health Risk
RS140584714
Conflicting classifications of pathogenicity
MGAT2-congenital disorder of glycosylation, Inborn genetic diseases, MGAT2-related disorder
Health Risk
RS145684106
Conflicting classifications of pathogenicity
MGAT2-congenital disorder of glycosylation, MGAT2-related disorder, Inborn genetic diseases
Health Risk
RS146729850
Conflicting classifications of pathogenicity
MGAT2-congenital disorder of glycosylation, MGAT2-related disorder, MGAT2-congenital disorder of glycosylation
Health Risk
RS3007037
Conflicting classifications of pathogenicity
MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation
Health Risk
RS563513161
Conflicting classifications of pathogenicity
MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation
Health Risk
RS1555327099
Likely pathogenic
Health Risk
RS1882879689
Likely pathogenic
MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation
Health Risk
RS2502745152
Likely pathogenic
MGAT2-congenital disorder of glycosylation, MGAT2-related disorder, MGAT2-congenital disorder of glycosylation
Health Risk
RS730882218
Likely pathogenic
MGAT2-congenital disorder of glycosylation, Abnormal glycosylation, Abnormal facial shape
Health Risk
RS748791502
Likely pathogenic
Health Risk
RS768879640
Likely pathogenic
Health Risk
All Variants (18)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS111486860 | Health Risk | Conflicting classifications of pathogenicity | MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS140584714 | Health Risk | Conflicting classifications of pathogenicity | MGAT2-congenital disorder of glycosylation, Inborn genetic diseases, MGAT2-related disorder |
| RS145684106 | Health Risk | Conflicting classifications of pathogenicity | MGAT2-congenital disorder of glycosylation, MGAT2-related disorder, Inborn genetic diseases |
| RS146729850 | Health Risk | Conflicting classifications of pathogenicity | MGAT2-congenital disorder of glycosylation, MGAT2-related disorder, MGAT2-congenital disorder of glycosylation |
| RS3007037 | Health Risk | Conflicting classifications of pathogenicity | MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS563513161 | Health Risk | Conflicting classifications of pathogenicity | MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS1555327099 | Health Risk | Likely pathogenic | — |
| RS1882879689 | Health Risk | Likely pathogenic | MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS2502745152 | Health Risk | Likely pathogenic | MGAT2-congenital disorder of glycosylation, MGAT2-related disorder, MGAT2-congenital disorder of glycosylation |
| RS730882218 | Health Risk | Likely pathogenic | MGAT2-congenital disorder of glycosylation, Abnormal glycosylation, Abnormal facial shape |
| RS748791502 | Health Risk | Likely pathogenic | — |
| RS768879640 | Health Risk | Likely pathogenic | — |
| RS104894447 | Health Risk | Pathogenic | MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS104894448 | Health Risk | Pathogenic | MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS104894449 | Health Risk | Pathogenic | MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS1310787426 | Health Risk | Pathogenic | MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS1566504935 | Health Risk | Pathogenic | MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |
| RS1566505013 | Health Risk | Pathogenic | MGAT2-congenital disorder of glycosylation, MGAT2-congenital disorder of glycosylation |