Gene
b3galnt2
- ID
- ZDB-GENE-050522-358
- Name
- beta-1,3-N-acetylgalactosaminyltransferase 2
- Symbol
- b3galnt2 Nomenclature History
- Previous Names
-
- zgc:112351
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to have acetylgalactosaminyltransferase activity. Involved in muscle fiber development and protein glycosylation. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in congenital muscular dystrophy-dystroglycanopathy type A11. Orthologous to human B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:112351 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Stevens et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11 | 615181 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Family | IPR002659 | Glycosyl transferase, family 31 |
Domain Details Per Protein
Protein | Length | Glycosyl transferase, family 31 |
---|---|---|
UniProtKB:Q502B3
|
491 |
Type | Name | Annotation Method | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
b3galnt2-201
(1)
|
Ensembl | 2233 nt | |
mRNA |
b3galnt2-202
(1)
|
Havana | 1408 nt | |
ncRNA |
b3galnt2-002
(1)
|
Havana | 772 nt |
Interactions and Pathways
No data available
Plasmids
No data available