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

Gene ID: 58193, updated on 5-Mar-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, Apr 2022]
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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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. The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination. Pu A, et al. J Neuroinflammation, 2020 Jul 23. PMID 32703234, Free PMC Article
  4. 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
  5. 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

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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (1) 

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 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 glycosyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables manganese ion binding IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
enables transferase activity IEA
Inferred from Electronic Annotation
more info
  
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 ISO
Inferred from Sequence Orthology
more info
  
located_in endoplasmic reticulum ISO
Inferred from Sequence Orthology
more info
  
located_in membrane 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

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