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Ext2 exostosin glycosyltransferase 2 [ Mus musculus (house mouse) ]

Gene ID: 14043, updated on 10-Mar-2023

Summary

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Official Symbol
Ext2provided by MGI
Official Full Name
exostosin glycosyltransferase 2provided by MGI
Primary source
MGI:MGI:108050
See related
Ensembl:ENSMUSG00000027198 AllianceGenome:MGI:108050
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary
Enables acetylglucosaminyltransferase activity; glucuronosyltransferase activity; and protein homodimerization activity. Acts upstream of or within with a positive effect on gene expression; protein N-linked glycosylation; and sulfation. Acts upstream of or within several processes, including heparan sulfate proteoglycan biosynthetic process; heparin biosynthetic process; and sodium ion homeostasis. Located in Golgi apparatus and endoplasmic reticulum. Is expressed in several structures, including alimentary system; central nervous system; ear; genitourinary system; and respiratory system. Used to study hereditary multiple exostoses. Orthologous to human EXT2 (exostosin glycosyltransferase 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in ovary adult (RPKM 29.4), limb E14.5 (RPKM 23.3) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Ext2 in Genome Data Viewer
Location:
2 E1; 2 51.62 cM
Exon count:
17
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (93525976..93652913, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (93695631..93822568, complement)

Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 33061 Neighboring gene aristaless-like homeobox 4 Neighboring gene ribosomal protein S2 pseudogene Neighboring gene 1-aminocyclopropane-1-carboxylate synthase (non-functional) Neighboring gene 1-aminocyclopropane-1-carboxylate synthase (non-functional)-like Neighboring gene predicted gene, 54116

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Transgenic expression of the EXT2 gene in developing chondrocytes enhances the synthesis of heparan sulfate and bone formation in mice. Morimoto K, et al. Biochem Biophys Res Commun, 2002 Apr 12. PMID 11944914
  2. Isolation and characterization of the murine homolog of the human EXT2 multiple exostoses gene. Stickens D, et al. Biochem Mol Med, 1997 Jun. PMID 9232192
  3. Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization. Olde Engberink RHG, et al. PLoS One, 2019. PMID 31365577, Free PMC Article
  4. Gene expression of EXT1 and EXT2 during mouse brain development. Inatani M, et al. Brain Res Dev Brain Res, 2003 Mar 14. PMID 12644256
  5. Hereditary multiple exostosis and chondrosarcoma: linkage to chromosome II and loss of heterozygosity for EXT-linked markers on chromosomes II and 8. Hecht JT, et al. Am J Hum Genet, 1995 May. PMID 7726168, Free PMC Article

See all (45) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Using mouse embryonic stem cell-derived mosaic tissues with compartments that lack Exostosin1 and Exostosin2, or Glypican5, it has been shown that Shh accumulates around its source cells when they are surrounded by cells that have a mutated extracellular matrix.
    Title: Loss of the Heparan Sulfate Proteoglycan Glypican5 Facilitates Long-Range Sonic Hedgehog Signaling.
  2. Let-7b-mediated suppression of initiation codon depends on the length of 5'-UTR of EXT2 mRNA and its suppression is inhibited in the presence of polyamines.
    Title: Polyamines release the let-7b-mediated suppression of initiation codon recognition during the protein synthesis of EXT2.
  3. Heterozygous loss of function of EXT1 and EXT2 results in a decreased arteriolar endothelial glycocalyx but improved flow mediated vasodilation.
    Title: Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.
  4. The study indicates that formation of stereotypic exostoses requires a significant, but not complete, loss of Ext expression.
    Title: Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bones.
  5. NDST1 competes with EXT1 for binding to EXT2.
    Title: Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation.
  6. The EXT2 gene encodes an essential component of the glycosyltransferase complex required for biosynthesis of heparan sulfate, which may eventually modulate the signaling involved in bone formation
    Title: Transgenic expression of the EXT2 gene in developing chondrocytes enhances the synthesis of heparan sulfate and bone formation in mice.
  7. EXT2 peaks during early postnatal period in the cerebrum and around birth in the cerebellum. EXT2 was localized primarily in the neuroepithelial cells surrounding the lateral ventricles, the mesencephalic vesicle, and the fourth ventricle.
    Title: Gene expression of EXT1 and EXT2 during mouse brain development.
  8. Mutant embryos developed normally until embryonic day 6.0, when they became growth arrested and failed to gastrulate, pointing to the early essential role for heparan sulfate in developing embryos.
    Title: Mice deficient in Ext2 lack heparan sulfate and develop exostoses.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity IC
Inferred by Curator
more info
 PubMed 
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables acetylglucosaminyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
contributes_to acetylglucosaminyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IC
Inferred by Curator
more info
 PubMed 
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IGI
Inferred from Genetic Interaction
more info
 PubMed 
enables glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glucuronosyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables glycosyltransferase activity ISO
Inferred from Sequence Orthology
more info
  
enables heparan sulfate N-acetylglucosaminyltransferase activity IC
Inferred by Curator
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity ISO
Inferred from Sequence Orthology
more info
  
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within cellular response to fibroblast growth factor stimulus IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within chondrocyte differentiation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within endochondral bone morphogenesis IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within fluid transport IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within_positive_effect gene expression IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within_positive_effect gene expression IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in glycosaminoglycan biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within heart contraction IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in heparan sulfate proteoglycan biosynthetic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within heparan sulfate proteoglycan biosynthetic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in heparan sulfate proteoglycan biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within heparin biosynthetic process IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within mesoderm formation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within multicellular organismal-level water homeostasis IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in ossification ISO
Inferred from Sequence Orthology
more info
  
involved_in polysaccharide biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
acts_upstream_of_or_within_positive_effect protein N-linked glycosylation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein glycosylation IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within regulation of blood pressure IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within sodium ion homeostasis IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within_positive_effect sulfation IDA
Inferred from Direct Assay
more info
 PubMed 
acts_upstream_of_or_within vasodilation IGI
Inferred from Genetic Interaction
more info
 PubMed 
Component Evidence Code Pubs
is_active_in Golgi apparatus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
is_active_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
  
located_in Golgi membrane IC
Inferred by Curator
more info
 PubMed 
part_of UDP-N-acetylglucosamine transferase complex ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane IC
Inferred by Curator
more info
 PubMed 
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
exostosin-2
Names
exostoses (multiple) 2
glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
multiple exostoses protein 2 homolog
NP_001342005.1
NP_034293.2
XP_006498793.1
XP_006498794.1
XP_036014154.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001355075.2 → NP_001342004.2  exostosin-2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL732472, AL732493
    UniProtKB/Swiss-Prot
    Q923D6

  2. NM_001355076.2 → NP_001342005.1  exostosin-2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AL732472, AL732493
    Related
    ENSMUST00000123649.8
    Conserved Domains (2) summary
    pfam03016
    Location:100 → 380
    Exostosin; Exostosin family
    pfam09258
    Location:456 → 554
    Glyco_transf_64; Glycosyl transferase family 64 domain

  3. NM_001417073.1 → NP_001404002.1  exostosin-2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL732472, AL732493
    UniProtKB/Swiss-Prot
    Q923D6

  4. NM_001417074.1 → NP_001404003.1  exostosin-2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL732472, AL732493
    UniProtKB/Swiss-Prot
    Q923D6

  5. NM_001417075.1 → NP_001404004.1  exostosin-2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AL732472, AL732493

  6. NM_001417076.1 → NP_001404005.1  exostosin-2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL732472, AL732493

  7. NM_001417077.1 → NP_001404006.1  exostosin-2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AL732472, AL732493

  8. NM_010163.4 → NP_034293.2  exostosin-2 isoform 2

    See identical proteins and their annotated locations for NP_034293.2

    Status: VALIDATED

    Source sequence(s)
    AL732472, AL732493
    Consensus CDS
    CCDS16456.1
    UniProtKB/Swiss-Prot
    P70428, Q923D6
    UniProtKB/TrEMBL
    Q3UDB5
    Related
    ENSMUSP00000028623.7, ENSMUST00000028623.13
    Conserved Domains (2) summary
    pfam03016
    Location:100 → 380
    Exostosin; Exostosin family
    pfam09258
    Location:456 → 697
    Glyco_transf_64; Glycosyl transferase family 64 domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000068.8 Reference GRCm39 C57BL/6J

    Range
    93525976..93652913 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036158261.1 → XP_036014154.1  exostosin-2 isoform X3

    UniProtKB/Swiss-Prot
    Q923D6
    Conserved Domains (2) summary
    pfam03016
    Location:100 → 380
    Exostosin; Exostosin family
    pfam09258
    Location:456 → 697
    Glyco_transf_64; Glycosyl transferase family 64 domain

  2. XM_006498731.4 → XP_006498794.1  exostosin-2 isoform X2

    Conserved Domains (2) summary
    pfam03016
    Location:130 → 410
    Exostosin; Exostosin family
    pfam09258
    Location:486 → 727
    Glyco_transf_64; Glycosyl transferase family 64 domain

  3. XM_006498730.5 → XP_006498793.1  exostosin-2 isoform X1

    Conserved Domains (2) summary
    pfam03016
    Location:155 → 435
    Exostosin; Exostosin family
    pfam09258
    Location:511 → 752
    Glyco_transf_64; Glycosyl transferase family 64 domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P70428.2 GenPept UniProtKB/Swiss-Prot:P70428

Gene LinkOut

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