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    Extl2 exostosin-like glycosyltransferase 2 [ Mus musculus (house mouse) ]

    Gene ID: 58193, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Extl2provided by MGI
    Official Full Name
    exostosin-like glycosyltransferase 2provided by MGI
    Primary source
    MGI:MGI:1889574
    See related
    Ensembl:ENSMUSG00000027963 AllianceGenome:MGI:1889574
    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
    Also known as
    3000001D04Rik
    Summary
    Enables acetylgalactosaminyltransferase activity; glycosaminoglycan binding activity; and manganese ion binding activity. Involved in N-acetylglucosamine metabolic process and UDP-N-acetylgalactosamine metabolic process. Predicted to be located in cytosol; endoplasmic reticulum; and nucleoplasm. Is expressed in several structures, including central nervous system; genitourinary system; liver; lung; and spleen. Orthologous to human EXTL2 (exostosin like glycosyltransferase 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in cerebellum adult (RPKM 14.9), cortex adult (RPKM 7.8) and 24 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Extl2 in Genome Data Viewer
    Location:
    3 G1; 3 50.17 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 3 NC_000069.7 (115801083..115822666)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 3 NC_000069.6 (116007449..116029017)

    Chromosome 3 - NC_000069.7Genomic Context describing neighboring genes Neighboring gene solute carrier family 30 (zinc transporter), member 7 Neighboring gene E74-like factor 1 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E4581 Neighboring gene microRNA 669n Neighboring gene STARR-positive B cell enhancer ABC_E3462 Neighboring gene predicted gene, 26344 Neighboring gene predicted gene, 31384

    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. EXTL2 controls liver regeneration and aortic calcification through xylose kinase-dependent regulation of glycosaminoglycan biosynthesis. Nadanaka S, et al. Matrix Biol, 2014 Apr. PMID 24176719
    2. Roles of EXTL2, a member of the EXT family of tumour suppressors, in liver injury and regeneration processes. Nadanaka S, et al. Biochem J, 2013 Aug 15. PMID 23734945
    3. Aberrant glycosaminoglycan biosynthesis by tumor suppressor EXTL2 deficiency promotes liver inflammation and tumorigenesis through Toll-like 4 receptor signaling. Nadanaka S, et al. FASEB J, 2020 Jun. PMID 32347583
    4. Exostosin-like 2 regulates FGF2 signaling by controlling the endocytosis of FGF2. Nadanaka S, et al. Biochim Biophys Acta Gen Subj, 2018 Apr. PMID 29305908
    5. EXTL2, a member of the EXT family of tumor suppressors, controls glycosaminoglycan biosynthesis in a xylose kinase-dependent manner. Nadanaka S, et al. J Biol Chem, 2013 Mar 29. PMID 23395820, Free PMC Article

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination.
      Title: The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination.
    2. Aberrant glycosaminoglycan biosynthesis by tumor suppressor EXTL2 deficiency promotes liver inflammation and tumorigenesis through Toll-like 4 receptor signaling.
      Title: Aberrant glycosaminoglycan biosynthesis by tumor suppressor EXTL2 deficiency promotes liver inflammation and tumorigenesis through Toll-like 4 receptor signaling.
    3. Data show that exostosin-like 2 (EXTL2) controls fibroblast growth factor 2 (FGF2) signaling through regulation of heparan sulfate biosynthesis.
      Title: Exostosin-like 2 regulates FGF2 signaling by controlling the endocytosis of FGF2.
    4. EXTL2 controls liver regeneration and aortic calcification through xylose kinase-dependent regulation of glycosaminoglycan biosynthesis.[review]
      Title: EXTL2 controls liver regeneration and aortic calcification through xylose kinase-dependent regulation of glycosaminoglycan biosynthesis.
    5. EXTL2-mediated regulation of glycosaminoglycans synthesis is important for tissue regeneration processes following liver injury.
      Title: Roles of EXTL2, a member of the EXT family of tumour suppressors, in liver injury and regeneration processes.
    6. EXTL2 functions to suppress GAG biosynthesis that is enhanced by a xylose kinase and the EXTL2-dependent mechanism that regulates GAG biosynthesis might be a "quality control system" for proteoglycans
      Title: EXTL2, a member of the EXT family of tumor suppressors, controls glycosaminoglycan biosynthesis in a xylose kinase-dependent manner.
    7. crystal structure of EXTL2
      Title: Crystal structure of an alpha 1,4-N-acetylhexosaminyltransferase (EXTL2), a member of the exostosin gene family involved in heparan sulfate biosynthesis.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (2)  1 citation

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables alpha-1,4-N-acetylgalactosaminyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables alpha-1,4-N-acetylgalactosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables glycosaminoglycan binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables manganese ion binding IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in N-acetylglucosamine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in N-acetylglucosamine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in UDP-N-acetylgalactosamine metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in UDP-N-acetylgalactosamine metabolic process ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    exostosin-like 2
    Names
    EXT-related protein 2
    alpha-1,4-N-acetylhexosaminyltransferase EXTL2
    alpha-GalNAcT EXTL2
    exostoses (multiple)-like 2
    exostoses-like 2
    exotoses (multiple)-like 2
    glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    NP_001156986.1
    NP_001156987.1
    NP_067363.3
    XP_011238479.1
    XP_017175163.1
    XP_030108599.1
    XP_036019091.1

    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_001163514.1 → NP_001156986.1  exostosin-like 2 isoform a

      See identical proteins and their annotated locations for NP_001156986.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same isoform (a).
      Source sequence(s)
      AK019370, AK032016, BC094444, BY251302
      Consensus CDS
      CCDS17784.1
      UniProtKB/Swiss-Prot
      Q505Q8, Q9CX90, Q9ES89
      UniProtKB/TrEMBL
      Q3TXF7, Q8C197
      Related
      ENSMUSP00000102111.2, ENSMUST00000106502.2
      Conserved Domains (1) summary
      pfam09258
      Location:67 → 313
      Glyco_transf_64; Glycosyl transferase family 64 domain

    2. NM_001163515.1 → NP_001156987.1  exostosin-like 2 isoform b

      See identical proteins and their annotated locations for NP_001156987.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks the alternate exon containing the translation start codon compared to variant 1. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.
      Source sequence(s)
      AK032016, AK161866, BG694725
      Consensus CDS
      CCDS51057.1
      UniProtKB/TrEMBL
      K0J1C6, Q3TSR0
      Related
      ENSMUSP00000102110.2, ENSMUST00000106501.8
      Conserved Domains (1) summary
      pfam09258
      Location:53 → 303
      Glyco_transf_64; Glycosyl transferase family 64 domain

    3. NM_021388.4 → NP_067363.3  exostosin-like 2 isoform a

      See identical proteins and their annotated locations for NP_067363.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (a). Variants 1 and 2 both encode the same isoform.
      Source sequence(s)
      AK032016, BC094444, BG694725
      Consensus CDS
      CCDS17784.1
      UniProtKB/Swiss-Prot
      Q505Q8, Q9CX90, Q9ES89
      UniProtKB/TrEMBL
      Q3TXF7, Q8C197
      Related
      ENSMUSP00000029575.6, ENSMUST00000029575.12
      Conserved Domains (1) summary
      pfam09258
      Location:67 → 313
      Glyco_transf_64; Glycosyl transferase family 64 domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000069.7 Reference GRCm39 C57BL/6J

      Range
      115801083..115822666
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011240177.4 → XP_011238479.1  exostosin-like 2 isoform X1

      UniProtKB/TrEMBL
      K0J1C6
      Conserved Domains (1) summary
      pfam09258
      Location:65 → 315
      Glyco_transf_64; Glycosyl transferase family 64 domain

    2. XM_030252739.1 → XP_030108599.1  exostosin-like 2 isoform X2

      UniProtKB/TrEMBL
      K0J1C6, Q3TSR0
      Conserved Domains (1) summary
      pfam09258
      Location:53 → 303
      Glyco_transf_64; Glycosyl transferase family 64 domain

    3. XM_036163198.1 → XP_036019091.1  exostosin-like 2 isoform X2

      UniProtKB/TrEMBL
      K0J1C6, Q3TSR0
      Conserved Domains (1) summary
      pfam09258
      Location:53 → 303
      Glyco_transf_64; Glycosyl transferase family 64 domain

    4. XM_017319674.2 → XP_017175163.1  exostosin-like 2 isoform X1

      UniProtKB/TrEMBL
      K0J1C6
      Conserved Domains (1) summary
      pfam09258
      Location:65 → 315
      Glyco_transf_64; Glycosyl transferase family 64 domain
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ES89.1 GenPept UniProtKB/Swiss-Prot:Q9ES89

    Gene LinkOut

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