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Ext2
Gene Detail
 Symbol
Name
ID
Ext2
exostoses (multiple) 2
MGI:108050
Feature Type protein coding gene
Genetic Map
Chromosome 2
51.62 cM
Detailed Genetic Map ± 1 cM


Mapping data(4)
Sequence Map
Chr2:93661028-93822568 bp, - strand
From VEGA annotation of GRCm38

  161541 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:345  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Ext2

Human
homologs
Human Homolog EXT2, exostosin glycosyltransferase 2
NCBI Gene ID 2132
neXtProt AC  NX_Q93063
Human Synonyms  SOTV
Human Chr (Location)  11p12-p11; chr11:44095549-44245430 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human EXT2
Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Gene trapped(2) Targeted(7)
Genomic Mutations involving Ext2 (2)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous null embryos lack heparan sulfate, initiate primitive streak formation but fail to form mesoderm, become growth arrested and die around gastrulation. Heterozygotes show various abnormalities in cartilage differentiation; about one-third form one or more exostoses on the ribs.
 
Human Diseases Modeled Using Mouse Ext2 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Ext2 interacts with 191 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (29 annotations)
Process cell differentiation, cellular polysaccharide biosynthetic process, ...
Component endoplasmic reticulum, endoplasmic reticulum membrane, ...
Function acetylglucosaminyltransferase activity, glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (8 records)
Data Summary: Results (181)    Tissues (162)    Images (35)
Theiler Stages: 10, 13, 17, 18, 19, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
RNA in situ 162
Northern blot 12
RT-PCR 7
cDNA source data(116)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(119) cDNA(117) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000014564 (Evidence)
Ensembl Gene ModelENSMUSG00000027198 (Evidence)
Entrez Gene14043 (Evidence)
UniGene4336
DFCITC1574051, TC1597007, TC1649194, TC1741838
DoTSDT.101297615, DT.533051, DT.91323014, DT.91413473, DT.94340063, DT.99843674
NIA Mouse Gene IndexU023051
EC2.4.1.224, 2.4.1.225
Consensus CDS ProjectCCDS16456.1
International Mouse Knockout Project StatusExt2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000014564 VEGA Gene Model | MGI Sequence Detail 161541 C57BL/6J ±  kb
transcript OTTMUST00000034531 VEGA | MGI Sequence Detail 2871 Not Applicable 
polypeptide OTTMUSP00000015455 VEGA | MGI Sequence Detail 718 Not Applicable 

For the selected sequences
All sequences(113) RefSeq(10) UniProt(12)
Polymorphisms PCR(1) : SNPs within 2kb(1170 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR004263 Exostosin-like
InterPro IPR015338 EXTL2, alpha-1,4-N-acetylhexosaminyltransferase
Protein Ontology PR:000007269 exostosin-2
References (Earliest) J:48118 Hennekam RC, Hereditary multiple exostoses. J Med Genet. 1991 Apr;28(4):262-6
(Latest) J:182189 Chang YC, et al., Glycosaminoglycan binding facilitates entry of a bacterial pathogen into central nervous systems. PLoS Pathog. 2011 Jun;7(6):e1002082
All references(50)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-37086, MGI:2139111

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/23/2014
MGI 5.19
The Jackson Laboratory