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EXTL2 exostosin like glycosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 2135, updated on 3-Apr-2024

Summary

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Official Symbol
EXTL2provided by HGNC
Official Full Name
exostosin like glycosyltransferase 2provided by HGNC
Primary source
HGNC:HGNC:3516
See related
Ensembl:ENSG00000162694 MIM:602411; AllianceGenome:HGNC:3516
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EXTR2
Summary
Enables alpha-1,4-N-acetylgalactosaminyltransferase activity and glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. Involved in N-acetylglucosamine metabolic process and UDP-N-acetylgalactosamine metabolic process. Located in cytosol; endoplasmic reticulum; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in adrenal (RPKM 10.0), placenta (RPKM 9.1) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p21.2
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (100872372..100895179, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (100721212..100744883, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (101337928..101360735, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904231 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:101121642-101121817 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:101177825-101179024 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1385 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1386 Neighboring gene vascular cell adhesion molecule 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:101301135-101302334 Neighboring gene Sharpr-MPRA regulatory region 5467 Neighboring gene MPRA-validated peak338 silencer Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:101359730-101360453 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:101360454-101361176 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1388 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1389 Neighboring gene solute carrier family 30 member 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1390 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene 68 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:101490870-101492069 Neighboring gene diphthamide biosynthesis 5

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase. Sobhany M, et al. J Biol Chem, 2005 Jun 24. PMID 15831490
  2. Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion. Marques C, et al. J Biol Chem, 2022 Nov. PMID 36181793, Free PMC Article
  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. 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
  5. Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses. Kaidonis X, et al. Eur J Hum Genet, 2010 Feb. PMID 19690583, Free PMC Article

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion.
    Title: Glycosyltransferases EXTL2 and EXTL3 cellular balance dictates heparan sulfate biosynthesis and shapes gastric cancer cell motility and invasion.
  2. Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.
    Title: Altered Expression of Aggrecan, FAM20B, B3GALT6, and EXTL2 in Patients with Osteoarthritis and Kashin-Beck Disease.
  3. The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination.
    Title: The glycosyltransferase EXTL2 promotes proteoglycan deposition and injurious neuroinflammation following demyelination.
  4. 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.
  5. Lysosomal glycosaminoglycan levels in mucopolysaccharidosis are reduced by EXTL2 gene silencing.
    Title: Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.
  6. donor binding appears to undergo two distinct steps, beginning with the N-acetyl group expelling water from the donor- enzyme complex into the bulk solvent followed by positioning of the donor into the binding site for interactions with the enzyme
    Title: Two-step mechanism that determines the donor binding specificity of human UDP-N-acetylhexosaminyltransferase.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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 GOA

Function Evidence Code Pubs
enables alpha-1,4-N-acetylgalactosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
enables glycosaminoglycan binding IEA
Inferred from Electronic Annotation
more info
  
enables manganese ion binding IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in N-acetylglucosamine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in UDP-N-acetylgalactosamine metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in heparan sulfate proteoglycan biosynthetic process IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in endoplasmic reticulum IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
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
glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
processed exostosin-like 2
NP_001028197.1
NP_001248369.1
NP_001248370.1
NP_001248371.1
NP_001430.1
XP_005270678.1
XP_011539297.1
XP_011539298.1
XP_016856140.1
XP_047305361.1
XP_047305362.1
XP_047305363.1
XP_047305364.1
XP_047305365.1
XP_047305366.1
XP_054191071.1
XP_054191072.1
XP_054191073.1
XP_054191074.1
XP_054191075.1
XP_054191076.1
XP_054191077.1
XP_054191078.1
XP_054191079.1
XP_054191080.1
XP_054191081.1
XP_054191082.1
XP_054191083.1
XP_054191084.1
XP_054191085.1
XP_054191086.1
XP_054191087.1
XP_054191088.1

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_001033025.3 → NP_001028197.1  exostosin-like 2 isoform 1

    See identical proteins and their annotated locations for NP_001028197.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate splice site in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC104506, AK312895
    Consensus CDS
    CCDS775.1
    UniProtKB/Swiss-Prot
    B2R795, D3DT60, Q9UBQ6
    UniProtKB/TrEMBL
    Q49A43, Q8IYF4
    Related
    ENSP00000359132.3, ENST00000370114.8
    Conserved Domains (1) summary
    pfam09258
    Location:66 → 313
    Glyco_transf_64; Glycosyl transferase family 64 domain

  2. NM_001261440.2 → NP_001248369.1  exostosin-like 2 isoform 2

    See identical proteins and their annotated locations for NP_001248369.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site in the 5' UTR and an alternate splice site in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC104506, AK096914
    UniProtKB/TrEMBL
    Q49A43, Q8IYF4, Q8N8F1
    Conserved Domains (1) summary
    pfam09258
    Location:66 → 312
    Glyco_transf_64; Glycosyl transferase family 64 domain

  3. NM_001261441.2 → NP_001248370.1  exostosin-like 2 isoform 3

    See identical proteins and their annotated locations for NP_001248370.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' UTR and includes an alternate exon in the coding region, but maintains the reading frame, compared to variant 1. The encoded isoform (3) is longer than isoform 1.
    Source sequence(s)
    AC104506, AU130571
    UniProtKB/TrEMBL
    Q49A43, Q8IYF4
    Conserved Domains (1) summary
    pfam09258
    Location:74 → 321
    Glyco_transf_64; Glycosyl transferase family 64 domain

  4. NM_001261442.2 → NP_001248371.1  exostosin-like 2 isoform 4

    See identical proteins and their annotated locations for NP_001248371.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks an exon in the coding region, which results in a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AC104506, BX103291
    Consensus CDS
    CCDS72831.1
    UniProtKB/TrEMBL
    F5GZK1
    Related
    ENSP00000444385.2, ENST00000535414.5
    Conserved Domains (1) summary
    pfam09258
    Location:66 → 146
    Glyco_transf_64; Glycosyl transferase family 64 domain

  5. NM_001439.4 → NP_001430.1  exostosin-like 2 isoform 1

    See identical proteins and their annotated locations for NP_001430.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes isoform 1. Variants and 2 encode the same isoform.
    Source sequence(s)
    AC104506, AF000416
    Consensus CDS
    CCDS775.1
    UniProtKB/Swiss-Prot
    B2R795, D3DT60, Q9UBQ6
    UniProtKB/TrEMBL
    Q49A43, Q8IYF4
    Related
    ENSP00000359131.3, ENST00000370113.7
    Conserved Domains (1) summary
    pfam09258
    Location:66 → 313
    Glyco_transf_64; Glycosyl transferase family 64 domain

RNA

  1. NR_048570.1 RNA Sequence

    Status: VALIDATED

    Source sequence(s)
    AC104506, AK298124, BP202626

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    100872372..100895179 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047449409.1 → XP_047305365.1  exostosin-like 2 isoform X4

    UniProtKB/TrEMBL
    Q8N8F1

  2. XM_047449407.1 → XP_047305363.1  exostosin-like 2 isoform X3

    UniProtKB/Swiss-Prot
    B2R795, D3DT60, Q9UBQ6

  3. XM_047449405.1 → XP_047305361.1  exostosin-like 2 isoform X1

  4. XM_017000651.3 → XP_016856140.1  exostosin-like 2 isoform X4

    UniProtKB/TrEMBL
    Q49A43, Q8IYF4, Q8N8F1
    Conserved Domains (1) summary
    pfam09258
    Location:66 → 312
    Glyco_transf_64; Glycosyl transferase family 64 domain

  5. XM_005270621.2 → XP_005270678.1  exostosin-like 2 isoform X3

    See identical proteins and their annotated locations for XP_005270678.1

    UniProtKB/Swiss-Prot
    B2R795, D3DT60, Q9UBQ6
    UniProtKB/TrEMBL
    Q49A43, Q8IYF4
    Conserved Domains (1) summary
    pfam09258
    Location:66 → 313
    Glyco_transf_64; Glycosyl transferase family 64 domain

  6. XM_047449406.1 → XP_047305362.1  exostosin-like 2 isoform X1

  7. XM_011540996.3 → XP_011539298.1  exostosin-like 2 isoform X2

    UniProtKB/TrEMBL
    Q49A43, Q8IYF4
    Conserved Domains (1) summary
    pfam09258
    Location:74 → 320
    Glyco_transf_64; Glycosyl transferase family 64 domain

  8. XM_047449410.1 → XP_047305366.1  exostosin-like 2 isoform X4

    UniProtKB/TrEMBL
    Q8N8F1

  9. XM_047449408.1 → XP_047305364.1  exostosin-like 2 isoform X3

    UniProtKB/Swiss-Prot
    B2R795, D3DT60, Q9UBQ6

  10. XM_011540995.3 → XP_011539297.1  exostosin-like 2 isoform X1

    See identical proteins and their annotated locations for XP_011539297.1

    UniProtKB/TrEMBL
    Q49A43, Q8IYF4
    Conserved Domains (1) summary
    pfam09258
    Location:74 → 321
    Glyco_transf_64; Glycosyl transferase family 64 domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    100721212..100744883 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054335108.1 → XP_054191083.1  exostosin-like 2 isoform X3

    UniProtKB/Swiss-Prot
    B2R795, D3DT60, Q9UBQ6

  2. XM_054335113.1 → XP_054191088.1  exostosin-like 2 isoform X4

    UniProtKB/TrEMBL
    Q8N8F1

  3. XM_054335105.1 → XP_054191080.1  exostosin-like 2 isoform X3

    UniProtKB/Swiss-Prot
    B2R795, D3DT60, Q9UBQ6

  4. XM_054335098.1 → XP_054191073.1  exostosin-like 2 isoform X1

  5. XM_054335107.1 → XP_054191082.1  exostosin-like 2 isoform X3

    UniProtKB/Swiss-Prot
    B2R795, D3DT60, Q9UBQ6

  6. XM_054335104.1 → XP_054191079.1  exostosin-like 2 isoform X3

    UniProtKB/Swiss-Prot
    B2R795, D3DT60, Q9UBQ6

  7. XM_054335099.1 → XP_054191074.1  exostosin-like 2 isoform X1

  8. XM_054335103.1 → XP_054191078.1  exostosin-like 2 isoform X3

    UniProtKB/Swiss-Prot
    B2R795, D3DT60, Q9UBQ6

  9. XM_054335110.1 → XP_054191085.1  exostosin-like 2 isoform X4

    UniProtKB/TrEMBL
    Q8N8F1

  10. XM_054335111.1 → XP_054191086.1  exostosin-like 2 isoform X4

    UniProtKB/TrEMBL
    Q8N8F1

  11. XM_054335097.1 → XP_054191072.1  exostosin-like 2 isoform X1

  12. XM_054335100.1 → XP_054191075.1  exostosin-like 2 isoform X1

  13. XM_054335106.1 → XP_054191081.1  exostosin-like 2 isoform X3

    UniProtKB/Swiss-Prot
    B2R795, D3DT60, Q9UBQ6

  14. XM_054335102.1 → XP_054191077.1  exostosin-like 2 isoform X2

  15. XM_054335109.1 → XP_054191084.1  exostosin-like 2 isoform X4

    UniProtKB/TrEMBL
    Q8N8F1

  16. XM_054335096.1 → XP_054191071.1  exostosin-like 2 isoform X1

  17. XM_054335112.1 → XP_054191087.1  exostosin-like 2 isoform X4

    UniProtKB/TrEMBL
    Q8N8F1

  18. XM_054335101.1 → XP_054191076.1  exostosin-like 2 isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UBQ6.1 GenPept UniProtKB/Swiss-Prot:Q9UBQ6

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