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    EXT2 exostosin glycosyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 2132, updated on 28-Oct-2024

    Summary

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    Official Symbol
    EXT2provided by HGNC
    Official Full Name
    exostosin glycosyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:3513
    See related
    Ensembl:ENSG00000151348 MIM:608210; AllianceGenome:HGNC:3513
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    SOTV; SSMS
    Summary
    This gene encodes one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in placenta (RPKM 29.3), endometrium (RPKM 20.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See EXT2 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    19
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (44095678..44251962)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (44251025..44407303)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (44117228..44273512)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43964814-43965643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43965644-43966472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:43968482-43968982 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:43977126-43977352 Neighboring gene chromosome 11 open reading frame 96 Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44003904-44004404 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44004405-44004905 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44026425-44027286 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:44028815-44029314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:44035825-44036324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4647 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4649 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3272 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4650 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4651 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4652 Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44199715-44200215 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:44218806-44220005 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44283363-44283862 Neighboring gene VISTA enhancer hs2090 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:44299108-44299425 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44307156-44308129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44308130-44309102 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44324475-44325020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44325021-44325566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44331667-44332595 Neighboring gene ALX homeobox 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44356123-44356691 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44386509-44387008 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4653 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:44435693-44436892 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:44448301-44449231 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:44487974-44488970 Neighboring gene uncharacterized LOC105376645

    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 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. A splice-site mutation leads to haploinsufficiency of EXT2 mRNA for a dominant trait in a large family with multiple osteochondromas. Yang L, et al. J Orthop Res, 2010 Nov. PMID 20872591
    2. Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum. Yang A, et al. Ann Hum Genet, 2019 May. PMID 30730578
    3. Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. Gentile M, et al. Clin Genet, 2019 Jan. PMID 30288735
    4. A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2). El-Bazzal L, et al. Eur J Med Genet, 2019 Apr. PMID 30075207
    5. Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas. Xu Y, et al. Mol Med Rep, 2017 Oct. PMID 28849184

    See all (145) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates.
      Title: Exostoisns (EXT1/2) in Head and Neck Cancers: An In Silico Analysis and Clinical Correlates.
    2. EXT2: a novel prognostic and predictive biomarker for head and neck squamous cell carcinoma.
      Title: EXT2: a novel prognostic and predictive biomarker for head and neck squamous cell carcinoma.
    3. Insights into the Peritumoural Brain Zone of Glioblastoma: CDK4 and EXT2 May Be Potential Drivers of Malignancy.
      Title: Insights into the Peritumoural Brain Zone of Glioblastoma: CDK4 and EXT2 May Be Potential Drivers of Malignancy.
    4. Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT2 gene deletion mutation.
      Title: Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation.
    5. Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan.
      Title: Prevalence of neural epidermal growth factor-like 1- and exostosin 1/exostosin 2-associated membranous nephropathy: a single-center retrospective study in Japan.
    6. Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.
      Title: Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing.
    7. A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma.
      Title: A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma.
    8. Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis.
      Title: Immunopathological analysis of the expression of glomerular exostosin 1 and exostosin 2 in Japanese patients with lupus nephritis.
    9. In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes.
      Title: In Patients with Membranous Lupus Nephritis, Exostosin-Positivity and Exostosin-Negativity Represent Two Different Phenotypes.
    10. Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.
      Title: Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.
    Submit: New GeneRIF Correction See all GeneRIFs (80)

    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

    Associated conditions

    Description Tests
    Exostoses, multiple, type 2
    MedGen: C1851413 OMIM: 133701 GeneReviews: Hereditary Multiple Osteochondromas
    		Compare labs
    Seizures-scoliosis-macrocephaly syndrome
    MedGen: C4225248 OMIM: 616682 GeneReviews: Not available
    		Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-06-23)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-06-23)

    ClinGen Genome Curation PagePubMed

    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
    contributes_to N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    contributes_to acetylglucosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glucuronosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables glycosyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables glycosyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables heparan sulfate N-acetylglucosaminyltransferase activity NAS
    Non-traceable Author Statement
    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 IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    NOT enables protein homodimerization activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to fibroblast growth factor stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in chondrocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in endochondral bone morphogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in fluid transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in gene expression IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in glycosaminoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heart contraction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in heparan sulfate proteoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in heparin biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in multicellular organismal-level water homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ossification IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in polysaccharide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein N-linked glycosylation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of blood pressure IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sodium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sulfation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in vasodilation IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in Golgi apparatus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
    		  
    part_of UDP-N-acetylglucosamine transferase complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of catalytic complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    exostosin-2
    Names
    N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
    glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    heparan sulfate co-polymerase subunit EXT1
    multiple exostoses protein 2
    multiple exostosis 2
    putative tumor suppressor protein EXT2
    NP_000392.3
    NP_001171554.1
    NP_001376557.1
    NP_001376559.1
    NP_997005.1
    XP_011518252.1
    XP_047282484.1
    XP_047282485.1
    XP_047282486.1
    XP_054223949.1
    XP_054223950.1
    XP_054223951.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_007560.1 RefSeqGene

      Range
      5001..154882
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_494

    mRNA and Protein(s)

    1. NM_000401.3 → NP_000392.3  exostosin-2 isoform 1

      See identical proteins and their annotated locations for NP_000392.3

      Status: REVIEWED

      Source sequence(s)
      AC068457, AC103854, BE348865, BX648142, DA738392
      UniProtKB/TrEMBL
      Q6NUL1
      Conserved Domains (2) summary
      pfam03016
      Location:133 → 413
      Exostosin; Exostosin family
      pfam09258
      Location:489 → 723
      Glyco_transf_64; Glycosyl transferase family 64 domain

    2. NM_001178083.3 → NP_001171554.1  exostosin-2 isoform 3

      See identical proteins and their annotated locations for NP_001171554.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon, compared to variant 1. The encoded protein (isoform 3) is shorter than isoform 1.
      Source sequence(s)
      AC068457, AC103854, BE348865, BX648142, U62740, U72263
      Consensus CDS
      CCDS53619.1
      UniProtKB/TrEMBL
      Q6NUL1
      Related
      ENSP00000351509.4, ENST00000358681.8
      Conserved Domains (2) summary
      pfam03016
      Location:100 → 380
      Exostosin; Exostosin family
      pfam09258
      Location:466 → 700
      Glyco_transf_64; Glycosyl transferase family 64 domain

    3. NM_001389628.1 → NP_001376557.1  exostosin-2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC068457, AC103854, AC134775
      Consensus CDS
      CCDS7908.1
      UniProtKB/Swiss-Prot
      B2R5Z6, C9JU51, J3KPT2, O15288, Q93063
      UniProtKB/TrEMBL
      Q6NUL1
      Related
      ENSP00000342656.3, ENST00000343631.4
      Conserved Domains (2) summary
      pfam03016
      Location:100 → 380
      Exostosin; Exostosin family
      pfam09258
      Location:456 → 697
      Glyco_transf_64; Glycosyl transferase family 64 domain

    4. NM_001389630.1 → NP_001376559.1  exostosin-2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC068457, AC103854, AC134775
      Consensus CDS
      CCDS7908.1
      UniProtKB/Swiss-Prot
      B2R5Z6, C9JU51, J3KPT2, O15288, Q93063
      UniProtKB/TrEMBL
      Q6NUL1
      Related
      ENSP00000379032.4, ENST00000395673.8
      Conserved Domains (2) summary
      pfam03016
      Location:100 → 380
      Exostosin; Exostosin family
      pfam09258
      Location:456 → 697
      Glyco_transf_64; Glycosyl transferase family 64 domain

    5. NM_207122.2 → NP_997005.1  exostosin-2 isoform 2

      See identical proteins and their annotated locations for NP_997005.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is the predominant transcript and differs in the 5' UTR and coding region, compared to variant 1. These differences causes translation initiation at a downstream start codon and result in isoform (2) which has a shorter N-terminus, compared to isoform 1.
      Source sequence(s)
      AC103854, BM997250, U62740
      Consensus CDS
      CCDS7908.1
      UniProtKB/Swiss-Prot
      B2R5Z6, C9JU51, J3KPT2, O15288, Q93063
      UniProtKB/TrEMBL
      Q6NUL1
      Related
      ENSP00000431173.2, ENST00000533608.7
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      44095678..44251962
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426529.1 → XP_047282485.1  exostosin-2 isoform X2

    2. XM_011519950.2 → XP_011518252.1  exostosin-2 isoform X1

      UniProtKB/TrEMBL
      Q6NUL1
      Conserved Domains (2) summary
      pfam03016
      Location:146 → 426
      Exostosin; Exostosin family
      pfam09258
      Location:502 → 736
      Glyco_transf_64; Glycosyl transferase family 64 domain

    3. XM_047426528.1 → XP_047282484.1  exostosin-2 isoform X2

    4. XM_047426530.1 → XP_047282486.1  exostosin-2 isoform X3

      UniProtKB/Swiss-Prot
      B2R5Z6, C9JU51, J3KPT2, O15288, Q93063

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      44251025..44407303
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367974.1 → XP_054223949.1  exostosin-2 isoform X1

    2. XM_054367975.1 → XP_054223950.1  exostosin-2 isoform X2

    3. XM_054367976.1 → XP_054223951.1  exostosin-2 isoform X3

      UniProtKB/Swiss-Prot
      B2R5Z6, C9JU51, J3KPT2, O15288, Q93063
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q93063.1 GenPept UniProtKB/Swiss-Prot:Q93063

    Gene LinkOut

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