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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: EXT2
Gene Tree: Ext2

Human
homologs
EXT2, exostosin glycosyltransferase 2
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 2132
neXtProt AC: NX_Q93063

Human Synonyms: SOTV

Human Chr (Location): 11p12-p11; chr11:44095549-44245430 (+)  GRCh38.p2

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 in Mice Using Ext2 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Ext2 interacts with 191 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Expression
Literature Summary: (8 records)
Data Summary: Results (181)    Tissues (163)    Images (35)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 162
Northern blot 12
RT-PCR 7
cDNA source data(116)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ext2 ; ZFIN ext2    NEW 
Molecular
reagents
All nucleic(119) cDNA(117) Primer pair(2)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000014564 (Evidence)
Ensembl Gene Model ENSMUSG00000027198 (Evidence)
Entrez Gene 14043 (Evidence)
UniGene 4336
DFCI TC1649194, TC1597007, TC1574051, TC1741838
DoTS DT.533051, DT.101297615, DT.91323014, DT.99843674, DT.94340063, DT.91413473
NIA Mouse Gene Index U023051
EC 2.4.1.225, 2.4.1.224
Consensus CDS Project CCDS16456.1
International Mouse Phenotyping Consortium Status Ext2
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(120) 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(49)
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
06/23/2015
MGI 5.22
The Jackson Laboratory