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    EXT2 exostosin glycosyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 2132, updated on 20-Apr-2017
    Official Symbol
    EXT2provided by HGNC
    Official Full Name
    exostosin glycosyltransferase 2provided by HGNC
    Primary source
    HGNC:HGNC:3513
    See related
    Ensembl:ENSG00000151348 MIM:608210; Vega:OTTHUMG00000166498
    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]
    Orthologs
    Location:
    11p11.2
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 11 NC_000011.10 (44095549..44245430)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (44117099..44266980)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene chromosome 11 open reading frame 96 Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) Neighboring gene ALX homeobox 4 Neighboring gene uncharacterized LOC105376645

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Multiple exostoses type 2 Compare labs
    Seizures, scoliosis, and macrocephaly syndrome
    MedGen: CN234668 OMIM: 616682 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated (2012-03-08)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated (2012-03-08)

    ClinGen Genome Curation PagePubMed
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    cell differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    cellular polysaccharide biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycosaminoglycan biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    glycosaminoglycan biosynthetic process TAS
    Traceable Author Statement
    more info
     
    heparan sulfate proteoglycan biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    mesoderm formation IEA
    Inferred from Electronic Annotation
    more info
     
    ossification IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein glycosylation IEA
    Inferred from Electronic Annotation
    more info
     
    signal transduction TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    Golgi apparatus IDA
    Inferred from Direct Assay
    more info
     
    Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    UDP-N-acetylglucosamine transferase complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Preferred Names
    exostosin-2
    Names
    N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
    glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    multiple exostoses protein 2
    putative tumor suppressor protein EXT2
    NP_000392.3
    NP_001171554.1
    NP_997005.1

    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_000401.3NP_000392.3  exostosin-2 isoform 1

      See identical proteins and their annotated locations for NP_000392.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC068457, AC103854, BE348865, BX648142, DA738392
      Consensus CDS
      CCDS53618.1
      UniProtKB/Swiss-Prot
      Q93063
      Related
      ENSP00000379032.3, ENST00000395673.7
      Conserved Domains (2) summary
      pfam03016
      Location:133413
      Exostosin; Exostosin family
      pfam09258
      Location:489723
      Glyco_transf_64; Glycosyl transferase family 64 domain
    2. NM_001178083.1NP_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/Swiss-Prot
      Q93063
      Related
      ENSP00000351509.4, OTTHUMP00000233077, ENST00000358681.8, OTTHUMT00000390073
      Conserved Domains (2) summary
      pfam03016
      Location:100380
      Exostosin; Exostosin family
      pfam09258
      Location:466700
      Glyco_transf_64; Glycosyl transferase family 64 domain
    3. NM_207122.1NP_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)
      BM997250, U62740
      Consensus CDS
      CCDS7908.1
      UniProtKB/Swiss-Prot
      Q93063
      Related
      ENSP00000431173.1, OTTHUMP00000233074, ENST00000533608.5, OTTHUMT00000390069
      Conserved Domains (2) summary
      pfam03016
      Location:100380
      Exostosin; Exostosin family
      pfam09258
      Location:456690
      Glyco_transf_64; Glycosyl transferase family 64 domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p7 Primary Assembly

      Range
      44095549..44245430
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011519951.1XP_011518253.1  exostosin-2 isoform X2

      See identical proteins and their annotated locations for XP_011518253.1

      UniProtKB/TrEMBL
      D3DR24
      Conserved Domains (2) summary
      pfam03016
      Location:113393
      Exostosin; Exostosin family
      pfam09258
      Location:469703
      Glyco_transf_64; Glycosyl transferase family 64 domain
    2. XM_011519950.1XP_011518252.1  exostosin-2 isoform X1

      Conserved Domains (2) summary
      pfam03016
      Location:146426
      Exostosin; Exostosin family
      pfam09258
      Location:502736
      Glyco_transf_64; Glycosyl transferase family 64 domain

    Alternate CHM1_1.1

    Genomic

    1. NC_018922.2 Alternate CHM1_1.1

      Range
      44116142..44266006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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