EXT2 (gene): Difference between revisions

Jump to navigation Jump to search
WikiBot (talk | contribs)
m Robot: Automated text replacement (-{{WikiDoc Cardiology Network Infobox}} +, -<references /> +{{reflist|2}}, -{{reflist}} +{{reflist|2}})
 
imported>Bibcode Bot
m Adding 0 arxiv eprint(s), 1 bibcode(s) and 0 doi(s). Did it miss something? Report bugs, errors, and suggestions at User talk:Bibcode Bot
 
(One intermediate revision by one other user not shown)
Line 1: Line 1:
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Exostosin-2''' is a [[protein]] that in humans is encoded by the ''EXT2'' [[gene]].<ref name="pmid8162019">{{cite journal | vauthors = Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ | title = Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11 | journal = Hum Mol Genet | volume = 3 | issue = 1 | pages = 167–71 |date=May 1994 | pmid = 8162019 | pmc =  | doi =10.1093/hmg/3.1.167 }}</ref><ref name="pmid9576285">{{cite journal | vauthors = Bridge JA, Nelson M, Orndal C, Bhatia P, Neff JR | title = Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas | journal = Cancer | volume = 82 | issue = 9 | pages = 1657–63 |date=May 1998 | pmid = 9576285 | pmc =  | doi =10.1002/(SICI)1097-0142(19980501)82:9<1657::AID-CNCR10>3.0.CO;2-3 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: EXT2 exostoses (multiple) 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2132| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
 
<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Exostoses (multiple) 2
| HGNCid = 3513
| Symbol = EXT2
| AltSymbols =; SOTV
| OMIM = 608210
| ECnumber =
| Homologene = 345
| MGIid = 108050
  | GeneAtlas_image1 = PBB_GE_EXT2_202012_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_EXT2_202013_s_at_tn.png
  | Function = {{GNF_GO|id=GO:0016757 |text = transferase activity, transferring glycosyl groups}} {{GNF_GO|id=GO:0050508 |text = glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity}} {{GNF_GO|id=GO:0050509 |text = N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity}}
| Component = {{GNF_GO|id=GO:0005783 |text = endoplasmic reticulum}} {{GNF_GO|id=GO:0005789 |text = endoplasmic reticulum membrane}} {{GNF_GO|id=GO:0005794 |text = Golgi apparatus}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
  | Process = {{GNF_GO|id=GO:0001501 |text = skeletal development}} {{GNF_GO|id=GO:0006024 |text = glycosaminoglycan biosynthetic process}} {{GNF_GO|id=GO:0007049 |text = cell cycle}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0045786 |text = negative regulation of progression through cell cycle}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 2132
    | Hs_Ensembl = ENSG00000151348
    | Hs_RefseqProtein = NP_000392
    | Hs_RefseqmRNA = NM_000401
    | Hs_GenLoc_db =  
    | Hs_GenLoc_chr = 11
    | Hs_GenLoc_start = 44073675
    | Hs_GenLoc_end = 44223555
    | Hs_Uniprot = Q93063
    | Mm_EntrezGene = 14043
    | Mm_Ensembl = ENSMUSG00000027198
    | Mm_RefseqmRNA = NM_010163
    | Mm_RefseqProtein = NP_034293
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 93496472
    | Mm_GenLoc_end = 93623384
    | Mm_Uniprot = Q3TPI7
  }}
}}
'''Exostoses (multiple) 2''', also known as '''EXT2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: EXT2 exostoses (multiple) 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2132| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
<!-- The PBB_Summary template is automatically maintained by Protein Box Bot. See Template:PBB_Controls to Stop updates. -->
{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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 multiple exostoses.<ref name="entrez">{{cite web | title = Entrez Gene: EXT2 exostoses (multiple) 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2132| accessdate = }}</ref>
| summary_text = 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|Multiple Exostoses]].<ref name="entrez" />
}}
}}
==Interactions==
EXT2 (gene) has been shown to [[Protein-protein interaction|interact]] with [[TRAP1]].<ref name=pmid10545594>{{cite journal |last=Simmons |first=A D |author2=Musy M M|author3=Lopes C S|author4=Hwang L Y|author5=Yang Y P|author6=Lovett M |date=Nov 1999 |title=A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses |journal=Hum. Mol. Genet. |volume=8 |issue=12 |pages=2155–64 |publisher= |location = ENGLAND| issn = 0964-6906| pmid = 10545594 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |doi=10.1093/hmg/8.12.2155 }}</ref>


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Wuyts W, Van Hul W |title=Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. |journal=Hum. Mutat. |volume=15 |issue= 3 |pages= 220-7 |year= 2000 |pmid= 10679937 |doi= 10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K }}
*{{cite journal  | vauthors=Wuyts W, Van Hul W |title=Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes |journal=Hum. Mutat. |volume=15 |issue= 3 |pages= 220–7 |year= 2000 |pmid= 10679937 |doi= 10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K }}
*{{cite journal  | author=Wuyts W, Ramlakhan S, Van Hul W, ''et al.'' |title=Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. |journal=Am. J. Hum. Genet. |volume=57 |issue= 2 |pages= 382-7 |year= 1995 |pmid= 7668264 |doi= }}
*{{cite journal  | author=Wuyts W |title=Refinement of the Multiple Exostoses Locus (EXT2) to a 3-cM Interval on Chromosome 11 |journal=Am. J. Hum. Genet. |volume=57 |issue= 2 |pages= 382–7 |year= 1995 |pmid= 7668264 |doi=  | pmc=1801560  |name-list-format=vanc| author2=Ramlakhan S  | author3=Van Hul W  | display-authors=3 | last4=Hecht  | first4=JT  | last5=Van Den Ouweland  | first5=AM  | last6=Raskind | first6=WH  | last7=Hofstede  | first7=FC  | last8=Reyniers  | first8=E  | last9=Wells  | first9=DE  }}
*{{cite journal | author=Wu YQ, Heutink P, de Vries BB, ''et al.'' |title=Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. |journal=Hum. Mol. Genet. |volume=3 |issue= 1 |pages= 167-71 |year= 1994 |pmid= 8162019 |doi}}
*{{cite journal  | author=Stickens D |title=The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes |journal=Nat. Genet. |volume=14 |issue= 1 |pages= 25–32 |year= 1996 |pmid= 8782816 |doi= 10.1038/ng0996-25  |name-list-format=vanc| author2=Clines G  | author3=Burbee D  | display-authors=| last4=Ramos  | first4=Purita  | last5=Thomas  | first5=Sylvia  | last6=Hogue  | first6=Deborah | last7=Hecht  | first7=Jacqueline T.  | last8=Lovett  | first8=Michael  | last9=Evans  | first9=Glen A. }}
*{{cite journal  | author=Stickens D, Clines G, Burbee D, ''et al.'' |title=The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. |journal=Nat. Genet. |volume=14 |issue= 1 |pages= 25-32 |year= 1996 |pmid= 8782816 |doi= 10.1038/ng0996-25 }}
*{{cite journal  | author=Wuyts W |title=Positional cloning of a gene involved in hereditary multiple exostoses |journal=Hum. Mol. Genet. |volume=5 |issue= 10 |pages= 1547–57 |year= 1997 |pmid= 8894688 |doi=10.1093/hmg/5.10.1547 |name-list-format=vanc| author2=Van Hul W  | author3=Wauters J  | display-authors=| last4=Nemtsova  | first4=| last5=Reyniers  | first5=| last6=Van Hul  | first6=EV | last7=De Boulle  | first7=K  | last8=De Vries  | first8=BB  | last9=Hendrickx  | first9=J  }}
*{{cite journal | author=Wuyts W, Van Hul W, Wauters J, ''et al.'' |title=Positional cloning of a gene involved in hereditary multiple exostoses. |journal=Hum. Mol. Genet. |volume=5 |issue= 10 |pages= 1547-57 |year= 1997 |pmid= 8894688 |doi=  }}
*{{cite journal  | vauthors=Clines GA, Ashley JA, Shah S, Lovett M |title=The Structure of the Human Multiple Exostoses 2 Gene and Characterization of Homologs in Mouse and Caenorhabditis elegans |journal=Genome Res. |volume=7 |issue= 4 |pages= 359–67 |year= 1997 |pmid= 9110175 |doi=  10.1101/gr.7.4.359| pmc=139145  }}
*{{cite journal  | author=Clines GA, Ashley JA, Shah S, Lovett M |title=The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. |journal=Genome Res. |volume=7 |issue= 4 |pages= 359-67 |year= 1997 |pmid= 9110175 |doi=  }}
*{{cite journal  | author=Philippe C |title=Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 520–8 |year= 1997 |pmid= 9326317 |doi=10.1086/515505 | pmc=1715939 |name-list-format=vanc| author2=Porter DE  | author3=Emerton ME  | display-authors=| last4=Wells  | first4=Dan E.  | last5=Hamish  | first5=A.  | last6=Simpson  | first6=R.W.  | last7=Monaco  | first7=Anthony P.  }}
*{{cite journal  | author=Philippe C, Porter DE, Emerton ME, ''et al.'' |title=Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 520-8 |year= 1997 |pmid= 9326317 |doi}}
*{{cite journal  | author=Wuyts W |title=Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 346–54 |year= 1998 |pmid= 9463333 |doi=10.1086/301726 | pmc=1376901 |name-list-format=vanc| author2=Van Hul W  | author3=De Boulle K  | display-authors=| last4=Hendrickx  | first4=Jan  | last5=Bakker  | first5=Egbert  | last6=Vanhoenacker  | first6=Filip  | last7=Mollica  | first7=Florindo  | last8=Lüdecke  | first8=Hermann-Josef  | last9=Sayli  | first9=Bekir Sitki }}
*{{cite journal  | author=Wuyts W, Van Hul W, De Boulle K, ''et al.'' |title=Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 346-54 |year= 1998 |pmid= 9463333 |doi=  }}
*{{cite journal  | author=McCormick C |title=The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate |journal=Nat. Genet. |volume=19 |issue= 2 |pages= 158–61 |year= 1998 |pmid= 9620772 |doi= 10.1038/514 |name-list-format=vanc| author2=Leduc Y  | author3=Martindale D  | display-authors=| last4=Mattison  | first4=Kirsten  | last5=Esford  | first5=Lesley  | last6=Dyer  | first6=Angela  | last7=Tufaro | first7=Frank }}
*{{cite journal  | author=Bridge JA, Nelson M, Orndal C, ''et al.'' |title=Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. |journal=Cancer |volume=82 |issue= 9 |pages= 1657-63 |year= 1998 |pmid= 9576285 |doi=  }}
*{{cite journal  | author=Lind T |title=The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate |journal=J. Biol. Chem. |volume=273 |issue= 41 |pages= 26265–8 |year= 1998 |pmid= 9756849 |doi=10.1074/jbc.273.41.26265 |name-list-format=vanc| author2=Tufaro F  | author3=McCormick C  | display-authors=3 | last4=Lindahl  | first4=| last5=Lidholt  | first5=}}
*{{cite journal | author=McCormick C, Leduc Y, Martindale D, ''et al.'' |title=The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. |journal=Nat. Genet. |volume=19 |issue= 2 |pages= 158-61 |year= 1998 |pmid= 9620772 |doi= 10.1038/514 }}
*{{cite journal  | author=Park KJ |title=Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses |journal=J. Hum. Genet. |volume=44 |issue= 4 |pages= 230–4 |year= 1999 |pmid= 10429361 |doi=10.1007/s100380050149  |name-list-format=vanc| author2=Shin KH  | author3=Ku JL  | display-authors=3 | last4=Cho  | first4=Tae-Joon | last5=Lee  | first5=Sang Hoon  | last6=Choi  | first6=In Ho  | last7=Monaco  | first7=Anthony P.  | last8=Porter  | first8=Daniel E.  | last9=Park  | first9=J.-G.  }}
*{{cite journal  | author=Lind T, Tufaro F, McCormick C, ''et al.'' |title=The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. |journal=J. Biol. Chem. |volume=273 |issue= 41 |pages= 26265-8 |year= 1998 |pmid= 9756849 |doi=  }}
*{{cite journal  | author=Xu L |title=Mutation analysis of hereditary multiple exostoses in the Chinese |journal=Hum. Genet. |volume=105 |issue= 1–2 |pages= 45–50 |year= 1999 |pmid= 10480354 |doi=10.1007/s004390051062  |name-list-format=vanc| author2=Xia J  | author3=Jiang H  | display-authors=3 | last4=Zhou  | first4=J. | last5=Li  | first5=H.  | last6=Wang  | first6=D.  | last7=Pan  | first7=Q. | last8=Long  | first8=Z.  | last9=Fan  | first9=C.  }}
*{{cite journal | author=Park KJ, Shin KH, Ku JL, ''et al.'' |title=Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses. |journal=J. Hum. Genet. |volume=44 |issue= 4 |pages= 230-4 |year= 1999 |pmid= 10429361 |doi=  }}
*{{cite journal  | author=Simmons AD |title=A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses |journal=Hum. Mol. Genet. |volume=8 |issue= 12 |pages= 2155–64 |year= 1999 |pmid= 10545594 |doi=10.1093/hmg/8.12.2155  |name-list-format=vanc| author2=Musy MM  | author3=Lopes CS  | display-authors=3 | last4=Hwang  | first4=LY  | last5=Yang  | first5=YP  | last6=Lovett  | first6=M  }}
*{{cite journal  | author=Xu L, Xia J, Jiang H, ''et al.'' |title=Mutation analysis of hereditary multiple exostoses in the Chinese. |journal=Hum. Genet. |volume=105 |issue= 1-2 |pages= 45-50 |year= 1999 |pmid= 10480354 |doi= }}
*{{cite journal  | vauthors=McCormick C, Duncan G, Goutsos KT, Tufaro F |title=The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 2 |pages= 668–73 |year= 2000 |pmid= 10639137 |doi=10.1073/pnas.97.2.668  | pmc=15388  |bibcode=2000PNAS...97..668M }}
*{{cite journal | author=Simmons AD, Musy MM, Lopes CS, ''et al.'' |title=A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. |journal=Hum. Mol. Genet. |volume=8 |issue= 12 |pages= 2155-64 |year= 1999 |pmid= 10545594 |doi=  }}
*{{cite journal  | author=Kobayashi S |title=Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus |journal=Biochem. Biophys. Res. Commun. |volume=268 |issue= 3 |pages= 860–7 |year= 2000 |pmid= 10679296 |doi= 10.1006/bbrc.2000.2219  |name-list-format=vanc| author2=Morimoto K  | author3=Shimizu T  | display-authors=3  | last4=Takahashi  | first4=Mayumi  | last5=Kurosawa  | first5=Hisashi  | last6=Shirasawa  | first6=Takuji }}
*{{cite journal  | author=McCormick C, Duncan G, Goutsos KT, Tufaro F |title=The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 2 |pages= 668-73 |year= 2000 |pmid= 10639137 |doi= }}
*{{cite journal  | author=Shi YR |title=An R223P mutation in EXT2 gene causes hereditary multiple exostoses |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 390–1 |year= 2000 |pmid= 10738008 |doi= 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU35>3.0.CO;2-E  |name-list-format=vanc| author2=Wu JY  | author3=Tsai FJ  | display-authors=3  | last4=Lee  | first4=Cheng-Chun  | last5=Tsai  | first5=Chang-Hai }}
*{{cite journal | author=Kobayashi S, Morimoto K, Shimizu T, ''et al.'' |title=Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. |journal=Biochem. Biophys. Res. Commun. |volume=268 |issue= 3 |pages= 860-7 |year= 2000 |pmid= 10679296 |doi= 10.1006/bbrc.2000.2219 }}
*{{cite journal  | vauthors=Stickens D, Brown D, Evans GA |title=EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis |journal=Dev. Dyn. |volume=218 |issue= 3 |pages= 452–64 |year= 2000 |pmid= 10878610 |doi= 10.1002/1097-0177(200007)218:3<452::AID-DVDY1000>3.0.CO;2-P }}
*{{cite journal  | author=Shi YR, Wu JY, Tsai FJ, ''et al.'' |title=An R223P mutation in EXT2 gene causes hereditary multiple exostoses. |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 390-1 |year= 2000 |pmid= 10738008 |doi= 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU35>3.0.CO;2-E }}
*{{cite journal  | author=Bernard MA |title=Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes |journal=Cell Motil. Cytoskeleton |volume=48 |issue= 2 |pages= 149–62 |year= 2001 |pmid= 11169766 |doi= 10.1002/1097-0169(200102)48:2<149::AID-CM1005>3.0.CO;2-3  |name-list-format=vanc| author2=Hall CE  | author3=Hogue DA  | display-authors=3  | last4=Cole  | first4=William G.  | last5=Scott  | first5=Allison  | last6=Snuggs  | first6=Mark B.  | last7=Clines  | first7=Gregory A.  | last8=Lüdecke  | first8=Hermann-Josef  | last9=Lovett  | first9=Michael }}
*{{cite journal | author=Stickens D, Brown D, Evans GA |title=EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. |journal=Dev. Dyn. |volume=218 |issue= 3 |pages= 452-64 |year= 2000 |pmid= 10878610 |doi= 10.1002/1097-0177(200007)218:3<452::AID-DVDY1000>3.0.CO;2-P }}
*{{cite journal  | author=Bernard MA, Hall CE, Hogue DA, ''et al.'' |title=Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. |journal=Cell Motil. Cytoskeleton |volume=48 |issue= 2 |pages= 149-62 |year= 2001 |pmid= 11169766 |doi= 10.1002/1097-0169(200102)48:2<149::AID-CM1005>3.0.CO;2-3 }}
}}
}}
{{refend}}
{{refend}}


==External links==
==External links==
* [http://MHEResearchFoundation.org Multiple Hereditary Exostoses Research Foundation]
* [http://MHEResearchFoundation.org Multiple Hereditary Exostoses Research Foundation]
 
{{Glycosyltransferases}}
{{Glycosaminoglycan metabolism enzymes}}
 
<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{PBB_Controls
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}
 


{{protein-stub}}
{{gene-11-stub}}
{{WikiDoc Sources}}

Latest revision as of 10:19, 23 June 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Exostosin-2 is a protein that in humans is encoded by the EXT2 gene.[1][2][3]

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 Multiple Exostoses.[3]

Interactions

EXT2 (gene) has been shown to interact with TRAP1.[4]

References

  1. Wu YQ, Heutink P, de Vries BB, Sandkuijl LA, van den Ouweland AM, Niermeijer MF, Galjaard H, Reyniers E, Willems PJ, Halley DJ (May 1994). "Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11". Hum Mol Genet. 3 (1): 167–71. doi:10.1093/hmg/3.1.167. PMID 8162019.
  2. 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.
  3. 3.0 3.1 "Entrez Gene: EXT2 exostoses (multiple) 2".
  4. Simmons, A D; Musy M M; Lopes C S; Hwang L Y; Yang Y P; Lovett M (Nov 1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. ENGLAND. 8 (12): 2155–64. doi:10.1093/hmg/8.12.2155. ISSN 0964-6906. PMID 10545594.

Further reading

External links