MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
Gene ID: 4247, updated on 5-Mar-2024Gene type: protein coding
Also known as: GNT2; CDG2A; CDGS2; GNT-II; GLCNACTII
- See all available tests in GTR for this gene
- Go to complete Gene record for MGAT2
- Go to Variation Viewer for MGAT2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| MGAT2-congenital disorder of glycosylation MedGen: C2931008OMIM: 212066GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview | See labs |
Genomic context
- Location:
- 14q21.3
- Sequence:
- Chromosome: 14; NC_000014.9 (49620799..49623481)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MGAT2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- MGAT2 database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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