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 enable acetylgalactosaminyltransferase activity. Involved in protein glycosylation. Acts upstream of or within muscle cell development. Predicted to be located in endoplasmic reticulum. Predicted to be active in membrane. 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 |
|---|---|---|---|
| congenital muscular dystrophy-dystroglycanopathy type A11 | Alliance | 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 | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
b3galnt2-201
(1)
|
Ensembl | 2,233 nt | ||
| mRNA |
b3galnt2-202
(1)
|
Ensembl | 1,408 nt | ||
| ncRNA |
b3galnt2-002
(1)
|
Ensembl | 772 nt |
Interactions and Pathways
No data available
Plasmids
No data available