Gene

ext2

ID
ZDB-GENE-041124-3
Name
exostosin glycosyltransferase 2
Symbol
ext2 Nomenclature History
Previous Names
  • ext2a (1)
  • dackel
  • dak
  • fc14g07
  • wu:fc14g07 (1)
Type
protein_coding_gene
Location
Chr: 7 Mapping Details/Browsers
Description
Predicted to have N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity and acetylglucosaminyltransferase activity. Involved in several processes, including animal organ development; generation of neurons; and proteoglycan biosynthetic process. Predicted to localize to Golgi apparatus. Is expressed in nervous system and pectoral fin musculature. Used to study hereditary multiple exostoses. Orthologous to human EXT2 (exostosin glycosyltransferase 2).
Genome Resources
Note
None
Expression
All Expression Data
from Lee et al., 2004
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
57 figures from 20 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ext2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
hereditary multiple exostoses Alliance Exostoses, multiple, type 2 133701
Seizures, scoliosis, and macrocephaly syndrome 616682
Associated With ext2 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR015338 Glycosyl transferase 64 domain
Domain IPR040911 Exostosin, GT47 domain
Family IPR004263 Exostosin-like
Family IPR027673 Exostosin-2
Homologous_superfamily IPR029044 Nucleotide-diphospho-sugar transferases
Domain Details Per Protein
Protein Length Exostosin-2 Exostosin, GT47 domain Exostosin-like Glycosyl transferase 64 domain Nucleotide-diphospho-sugar transferases
UniProtKB:F1QUC2 719
UniProtKB:Q5U7A7 719
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations