B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
Gene ID: 148789, updated on 27-Aug-2024Gene type: protein coding
Also known as: MDDGA11; B3GalNAc-T2
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- Go to complete Gene record for B3GALNT2
- Go to Variation Viewer for B3GALNT2 variants
Summary
This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013]
Associated conditions
Genomic context
- Location:
- 1q42.3
- Sequence:
- Chromosome: 1; NC_000001.11 (235439796..235504452, complement)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for B3GALNT2 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- Leiden Muscular Dystrophy pages (B3GALNT2)
- MedGenRelated information in MedGen
- 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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