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

Chr2:93695631-93822568 bp, - strand From VEGA annotation of GRCm38   126938 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; chr11:44117099-44266980 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human EXT2

Alleles and phenotypes

All alleles(7) : Targeted(5) Gene trapped(2)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (27 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 Type	Results
RNA in situ	162
Northern blot	12
RT-PCR	7

cDNA source data(116)
External Resources: Allen Institute   GEO   ArrayExpress

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	TC1574051, TC1597007, TC1649194, TC1741838
DoTS	DT.101297615, DT.533051, DT.91323014, DT.91413473, DT.94340063, DT.99843674
NIA Mouse Gene Index	U023051
EC	2.4.1.224, 2.4.1.225
Consensus CDS Project	CCDS16456.1
International Mouse Knockout Project Status	Ext2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000014564	VEGA Gene Model | MGI Sequence Detail	126938	C57BL/6J
transcript	OTTMUST00000034531	VEGA | MGI Sequence Detail	2871	Not Applicable
polypeptide	OTTMUSP00000015455	VEGA | MGI Sequence Detail	718	Not Applicable

All sequences(100) RefSeq(2) UniProt(11)

Polymorphisms

PCR(1) : SNPs(700 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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)

Other accession IDs

MGD-MRK-37086, MGI:2139111