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 and acetylglucosaminyltransferase activity. Involved in muscle fiber development and protein glycosylation. Predicted to localize to Golgi apparatus and 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
Expression
All Expression Data
2 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Stevens et al., 2013
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With b3galnt2 Human Ortholog
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
Associated With b3galnt2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations