EXT2 (gene)

EXT2
Identifiers
Aliases	EXT2, SOTV, SSMS, exostosin glycosyltransferase 2
External IDs	OMIM: 608210; MGI: 108050; HomoloGene: 345; GeneCards: EXT2; OMA:EXT2 - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	44,251,962 bp
Gene location (Mouse)
Chr.	Chromosome 2 (mouse)
End	93,652,913 bp
RNA expression pattern
	Top expressed in
	stromal cell of endometrium; ; cartilage tissue; ; smooth muscle tissue; ; tibia; ; islet of Langerhans; ; body of uterus; ; thoracic aorta; ; right coronary artery; ; ascending aorta; ; Descending thoracic aorta;
	Top expressed in
	tail of embryo; ; calvaria; ; yolk sac; ; vestibular sensory epithelium; ; decidua; ; genital tubercle; ; ankle; ; right kidney; ; gastrula; ; molar;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	transferase activity; heparan sulfate N-acetylglucosaminyltransferase activity; acetylglucosaminyltransferase activity; protein homodimerization activity; glycosyltransferase activity; N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity; glucuronosyltransferase activity; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; metal ion binding; protein heterodimerization activity; protein binding;
Cellular component	integral component of membrane; endoplasmic reticulum membrane; membrane; Golgi membrane; UDP-N-acetylglucosamine transferase complex; endoplasmic reticulum; extracellular exosome; Golgi apparatus;
Biological process	heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process; cell differentiation; ossification; mesoderm formation; heparan sulfate proteoglycan biosynthetic process; protein glycosylation; glycosaminoglycan biosynthetic process; cellular polysaccharide biosynthetic process; signal transduction;
	Sources:Amigo / QuickGO
Orthologs
	2132
	14043
	ENSG00000151348
	ENSMUSG00000027198
	Q93063
	P70428
	NM_000401; NM_001178083; NM_207122; NM_001389628; NM_001389630
	NM_010163; NM_001355075; NM_001355076
	NP_000392; NP_001171554; NP_997005
	NP_034293; NP_001342004; NP_001342005
	Wikidata
View/Edit Human	View/Edit Mouse

Exostosin glycosyltransferase-2 is a protein that in humans is encoded by the EXT2 gene.^[5]^[6]^[7]

This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of Hereditary Multiple Exostoses (HME).^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000151348 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000027198 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, et al. (January 1994). "Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11". Human Molecular Genetics. 3 (1): 167–71. doi:10.1093/hmg/3.1.167. PMID 8162019.
^ Bridge JA, Nelson M, Orndal C, Bhatia P, Neff JR (May 1998). "Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas". Cancer. 82 (9): 1657–63. doi:10.1002/(SICI)1097-0142(19980501)82:9<1657::AID-CNCR10>3.0.CO;2-3. PMID 9576285. S2CID 20882831.
^ ^a ^b "Entrez Gene: EXT2 exostoses (multiple) 2".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000151348 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000027198 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8162019-5] Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, et al. (January 1994). "Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11". Human Molecular Genetics. 3 (1): 167–71. doi:10.1093/hmg/3.1.167. PMID 8162019.

[pmid9576285-6] Bridge JA, Nelson M, Orndal C, Bhatia P, Neff JR (May 1998). "Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas". Cancer. 82 (9): 1657–63. doi:10.1002/(SICI)1097-0142(19980501)82:9<1657::AID-CNCR10>3.0.CO;2-3. PMID 9576285. S2CID 20882831.

[entrez-7] "Entrez Gene: EXT2 exostoses (multiple) 2".

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