ENSMUSG00000027198


Mus musculus

Features
Gene ID: ENSMUSG00000027198
  
Biological name :Ext2
  
Synonyms : Ext2 / Mus musculus exostoses (multiple) 2 (Ext2), transcript variant 1, mRNA. / P70428
  
Possible biological names infered from orthology : exostosin glycosyltransferase 2 / Q93063
  
Species: Mus musculus
  
Chr. number: 2
Strand: -1
Band: E1
Gene start: 93661028
Gene end: 93822568
  
Corresponding Affymetrix probe sets: 10485225 (MoGene1.0st)   1447319_at (Mouse Genome 430 2.0 Array)   1447743_x_at (Mouse Genome 430 2.0 Array)   1460170_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000120291
Ensembl peptide - ENSMUSP00000119281
Ensembl peptide - ENSMUSP00000122144
Ensembl peptide - ENSMUSP00000138956
Ensembl peptide - ENSMUSP00000123492
Ensembl peptide - ENSMUSP00000028623
Ensembl peptide - ENSMUSP00000106879
NCBI entrez gene - 14043     See in Manteia.
MGI - MGI:108050
RefSeq - XM_006498733
RefSeq - NM_001355075
RefSeq - NM_010163
RefSeq - XM_006498730
RefSeq - XM_006498731
RefSeq - XM_006498732
RefSeq Peptide - NP_001342004
RefSeq Peptide - NP_034293
swissprot - E9Q1M5
swissprot - B0QZZ7
swissprot - F6WHC9
swissprot - A2AIG6
swissprot - A2AIG3
swissprot - V9GX32
swissprot - P70428
Ensembl - ENSMUSG00000027198
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ext2ENSDARG00000056648Danio rerio
 EXT2ENSGALG00000031542Gallus gallus
 EXT2ENSG00000151348Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Ext1 / P97464 / Exostosin-1 / Q16394* / exostosin glycosyltransferase 1*ENSMUSG0000006173134
Extl3 / exostosin like glycosyltransferase 3 / O43909*ENSMUSG0000002197834
Extl1 / Q9JKV7 / Exostosin-like 1 / Q92935* / exostosin like glycosyltransferase 1*ENSMUSG0000002883826
Extl2 / Q9ES89 / Exostosin-like 2 / Q9UBQ6* / exostosin like glycosyltransferase 2*ENSMUSG0000002796313


Protein motifs (from Interpro)
Interpro ID Name
 IPR004263  Exostosin-like
 IPR015338  Exostosin , C-terminal
 IPR027673  Exostosin-2
 IPR029044  Nucleotide-diphospho-sugar transferases


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001503 ossification IEA
 biological_processGO:0001707 mesoderm formation IMP
 biological_processGO:0006024 glycosaminoglycan biosynthetic process IEA
 biological_processGO:0006486 protein glycosylation IEA
 biological_processGO:0015012 heparan sulfate proteoglycan biosynthetic process IEA
 biological_processGO:0015014 heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IEA
 biological_processGO:0030154 cell differentiation IMP
 biological_processGO:0033692 cellular polysaccharide biosynthetic process IEA
 cellular_componentGO:0000139 Golgi membrane IC
 cellular_componentGO:0005783 endoplasmic reticulum IDA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IC
 cellular_componentGO:0005794 Golgi apparatus IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0043541 UDP-N-acetylglucosamine transferase complex IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008375 acetylglucosaminyltransferase activity IDA
 molecular_functionGO:0015020 glucuronosyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016757 transferase activity, transferring glycosyl groups IEA
 molecular_functionGO:0042328 heparan sulfate N-acetylglucosaminyltransferase activity IC
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0046872 metal ion binding IEA
 molecular_functionGO:0046982 protein heterodimerization activity IEA
 molecular_functionGO:0050508 glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IC
 molecular_functionGO:0050509 N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity IC


Pathways (from Reactome)
Pathway description
HS-GAG biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000163 abnormal cartilage morphology "anomalous structure or development of the nonvascular, resilient, flexible connective tissue found primarily in joints, walls of the throax, and tubular structures, but which also comprises most of the skeleton in early fetal life " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nkx2-2tm1Jlr/Nkx2-2tm1Jlr,Nkx6-1tm1Jlr/Nkx6-1tm1Jlr
Genetic Background: involves: 129 * 129X1/SvJ * C57BL/6J

 MP:0001683 absent mesoderm "missing or failure to differentiate the middle primary germ layer " [J:40594]
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Allelic Composition: Nkx2-2tm1Jlr/Nkx2-2tm1Jlr,Nkx6-1tm1Jlr/Nkx6-1tm1Jlr
Genetic Background: involves: 129 * 129X1/SvJ * C57BL/6J

 MP:0001693 failure of primitive streak formation "inability to form the epiblast ridge from which arises the germ layers of the embryo" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:33880]
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Allelic Composition: Nkx2-2tm1Jlr/Nkx2-2tm1Jlr,Nkx6-1tm1Jlr/Nkx6-1tm1Jlr
Genetic Background: involves: 129 * 129X1/SvJ * C57BL/6J

 MP:0001696 failure to gastrulate "inability to differentiate and invaginate the primary germ layers" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:34458]
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Allelic Composition: Nkx2-2tm1Jlr/Nkx2-2tm1Jlr,Nkx6-1tm1Jlr/Nkx6-1tm1Jlr
Genetic Background: involves: 129 * 129X1/SvJ * C57BL/6J

 MP:0002113 abnormal skeleton development "anomalous differentiation or remodeling of bone tissue resulting in morphological abnormality" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nkx2-2tm1Jlr/Nkx2-2tm1Jlr,Nkx6-1tm1Jlr/Nkx6-1tm1Jlr
Genetic Background: involves: 129 * 129X1/SvJ * C57BL/6J

 MP:0003085 abnormal egg cylinder morphology "anomaly in the transient cup-like structure of the epiblast that consists of a single layer of embryonic cells" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Nkx2-2tm1Jlr/Nkx2-2tm1Jlr,Nkx6-1tm1Jlr/Nkx6-1tm1Jlr
Genetic Background: involves: 129 * 129X1/SvJ * C57BL/6J

 MP:0005508 abnormal skeleton morphology "malformation of the bony framework of the body in vertebrates" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Nkx2-2tm1Jlr/Nkx2-2tm1Jlr,Nkx6-1tm1Jlr/Nkx6-1tm1Jlr
Genetic Background: involves: 129 * 129X1/SvJ * C57BL/6J

 MP:0008271 abnormal bone ossification "any anomaly in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance" [GO:0001503]
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Allelic Composition: Nkx2-2tm1Jlr/Nkx2-2tm1Jlr,Nkx6-1tm1Jlr/Nkx6-1tm1Jlr
Genetic Background: involves: 129 * 129X1/SvJ * C57BL/6J

 MP:0009877 exostosis "a projection of bone, sometimes a benign tumor, that is capped by cartilage and arises from a bone that develops from cartilage" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
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Allelic Composition: Nkx2-2tm1Jlr/Nkx2-2tm1Jlr,Nkx6-1tm1Jlr/Nkx6-1tm1Jlr
Genetic Background: involves: 129 * 129X1/SvJ * C57BL/6J

 MP:0011096 complete embryonic lethality before somite formation "death of all organisms of a given genotype in a population between the point of implantation and somite formation (Mus: E4.5 to less than E8)" [MGI:csmith]
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Allelic Composition: Nkx2-2tm1Jlr/Nkx2-2tm1Jlr,Nkx6-1tm1Jlr/Nkx6-1tm1Jlr
Genetic Background: involves: 129 * 129X1/SvJ * C57BL/6J

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Sulf2Gt(XST155)Byg/Sulf2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000061731 Ext1 / P97464 / Exostosin-1 / Q16394* / exostosin glycosyltransferase 1*  / complex






 

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