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    EXT2 exostosin glycosyltransferase 2 [ Homo sapiens (human) ]

    Gene ID: 2132, updated on 22-May-2013
    Official Symbol
    EXT2provided by HGNC
    Official Full Name
    exostosin glycosyltransferase 2provided by HGNC
    Primary source
    HGNC:3513
    See related
    Ensembl:ENSG00000151348; HPRD:00599; 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
    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]
    Location :
    11p12-p11
    Sequence :
    Chromosome: 11; NC_000011.9 (44117099..44266980)
    See EXT2 in Epigenomics, MapViewer

    Chromosome 11 - NC_000011.9Genomic Context describing neighboring genes Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) Neighboring gene ALX homeobox 4 Neighboring gene uncharacterized LOC646535 Neighboring gene CD82 molecule

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Hereditary multiple exostoses, type II

    Summary from GeneReviews: Hereditary Multiple Osteochondromas Go to GeneReviews

    Disease Characteristics
    The disorder hereditary multiple osteochondromas (HMO), previously called hereditary multiple exostoses (HME), is characterized by growths of multiple osteochondromas (benign cartilage-capped bone tumors that grow outward from the metaphyses of long bones). Osteochondromas can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature, premature osteoarthrosis, and compression of peripheral nerves. The median age of diagnosis is three years; nearly all affected individuals are diagnosed by age 12 years. The risk for malignant degeneration to osteochondrosarcoma increases with age, although the lifetime risk of malignant degeneration is low (~1%).
    Diagnosis Testing
    The diagnosis of HMO is based on clinical and/or radiographic findings of multiple exostoses in one or more members of a family. The two genes known to be associated with HMO are EXT1 and EXT2; a third locus is possible. A combination of sequence analysis and deletion analysis of the entire coding regions of both EXT1 and EXT2 detects mutations in 70%-95% of affected individuals.
    Genetic Counseling
    HMO is inherited in an autosomal dominant manner. Penetrance is approximately 96%. Ten percent of affected individuals have HMO as the result of a de novo mutation. Offspring of an affected individual have a 50% risk of inheriting the disease-causing mutation. Prenatal testing for pregnancies at increased risk is possible if the disease-causing mutation in a family is known.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    Q93063 Q16394 EXT1    HPRD  PubMed  
    Q93063 Q93063 EXT2    HPRD  PubMed  
    Q93063 Q7Z7M9 GALNT5    HPRD  PubMed  
    Q93063 Q12931 TRAP1    HPRD  PubMed  
    BioGRID:108433 BioGRID:106807 ANXA7    BioGRID  PubMed Two-hybrid 
    BioGRID:108433 BioGRID:107460 CDKN1A    BioGRID  PubMed Two-hybrid 
    BioGRID:108433 BioGRID:127555 CLEC2L    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108433 BioGRID:107670 CNTF    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108433 BioGRID:116990 CRB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108433 BioGRID:108432 EXT1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108433 BioGRID:108433 EXT2    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:108433 BioGRID:108465 FABP4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108433 BioGRID:116394 GALNT5    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108433 BioGRID:119589 GSKIP    BioGRID  PubMed Two-hybrid 
    BioGRID:108433 BioGRID:109414 HNF4A    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108433 BioGRID:115780 HYOU1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108433 BioGRID:111223 PFDN1    BioGRID  PubMed Two-hybrid 
    BioGRID:108433 BioGRID:112149 RPS29    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108433 BioGRID:112469 SLC22A2    BioGRID  PubMed Two-hybrid 
    BioGRID:108433 BioGRID:112490 SMN1    BioGRID  PubMed Two-hybrid 
    BioGRID:108433 BioGRID:112507 SNCG    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108433 BioGRID:114144 STK16    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108433 BioGRID:112783 TCEB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108433 BioGRID:112938 TK1    BioGRID  PubMed Two-hybrid 
    BioGRID:108433 BioGRID:115435 TRAP1    BioGRID  PubMed Reconstituted Complex; Two-hybrid 
    BioGRID:108433 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • Disease, organism-specific biosystem (from REACTOME)
      Disease, organism-specific biosystemBiological processes are captured in Reactome by identifying the molecules (DNA, RNA, protein, small molecules) involved in them and describing the details of their interactions. From this molecular ...
    • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystem (from KEGG)
      Glycosaminoglycan biosynthesis - heparan sulfate / heparin, organism-specific biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
    • Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystem (from KEGG)
      Glycosaminoglycan biosynthesis - heparan sulfate / heparin, conserved biosystemHeparan sulfate (HS) and heparin (Hep) are glycosaminoglycans with repeating disaccharide units that consist of alternating residues of alpha-D-glucosamine (GlcN) and uronic acid, the latter being ei...
    • Glycosaminoglycan biosynthesis, heparan sulfate backbone, organism-specific biosystem (from KEGG)
      Glycosaminoglycan biosynthesis, heparan sulfate backbone, organism-specific biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
    • Glycosaminoglycan biosynthesis, heparan sulfate backbone, conserved biosystem (from KEGG)
      Glycosaminoglycan biosynthesis, heparan sulfate backbone, conserved biosystemPathway module; Carbohydrate and lipid metabolism; Glycosaminoglycan metabolism
    • Glycosaminoglycan metabolism, organism-specific biosystem (from REACTOME)
      Glycosaminoglycan metabolism, organism-specific biosystemGlycosaminoglycans (GAGs) are long, unbranched polysaccharides containing a repeating disaccharide unit composed of a hexosamine (either N-acetylgalactosamine (GalNAc) or N-acetylglucosamine (GlcNAc)...
    • HS-GAG biosynthesis, organism-specific biosystem (from REACTOME)
      HS-GAG biosynthesis, organism-specific biosystemHeparan sulfate (HS) and heparin (sometimes collectively called HS-GAG) consist of the disaccharide unit GlcNAc-GlcA (N-acetylglucosamine-glucuronic acid) connected by a beta1,4 linkage. Heparin is e...
    • Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystem (from REACTOME)
      Heparan sulfate/heparin (HS-GAG) metabolism, organism-specific biosystemThe acronym HS-GAG is used to describe both heparin and heparan sulfate. HS-GAG is a member of the glycosaminoglycan family and consists of a variably sulfated repeating disaccharide unit, the most ...
    • MPS I - Hurler syndrome, organism-specific biosystem (from REACTOME)
      MPS I - Hurler syndrome, organism-specific biosystemMucopolysaccharidosis type I (MPS I, Hurler syndrome, Hurler's disease, gargoylism, Scheie, Hirler-Scheie syndrome; MIM:607014, 607015 and 607016) is an autosomal recessive genetic disorder where th...
    • MPS II - Hunter syndrome, organism-specific biosystem (from REACTOME)
      MPS II - Hunter syndrome, organism-specific biosystemMucopolysaccharidosis II (MPS II, Hunter syndrome, MIM:309900) is an X-linked, recessive genetic disorder which therefore primarily affects males. MPS II was first described in 1917, by Major Charles...
    • MPS IIIA - Sanfilippo syndrome A, organism-specific biosystem (from REACTOME)
      MPS IIIA - Sanfilippo syndrome A, organism-specific biosystemMucopolysaccharidosis III (MPS III, Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis IIIA (M...
    • MPS IIIB - Sanfilippo syndrome B, organism-specific biosystem (from REACTOME)
      MPS IIIB - Sanfilippo syndrome B, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). MPS IIIB (Mucopolysaccharidosis type II...
    • MPS IIIC - Sanfilippo syndrome C, organism-specific biosystem (from REACTOME)
      MPS IIIC - Sanfilippo syndrome C, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837838, 1963, no reference). Mucopolysaccharidosis type IIIC (MPS II...
    • MPS IIID - Sanfilippo syndrome D, organism-specific biosystem (from REACTOME)
      MPS IIID - Sanfilippo syndrome D, organism-specific biosystemMucopolysaccharidosis III (Sanfilippo syndrome) was described in 1963 by a pediatrician named Sylvester Sanfilippo (J. Pediat. 63: 837-838, 1963, no reference). Mucopolysaccharidosis type IIID (MPS I...
    • MPS IV - Morquio syndrome A, organism-specific biosystem (from REACTOME)
      MPS IV - Morquio syndrome A, organism-specific biosystemMucopolysaccharidosis IV A (MPS IVA, MPS4A, Morquio's syndrome, Morquio's; MIM:253000) is a rare, autosomal recessive mucopolysaccharide storage disease, first described simultaneously in 1929 by L M...
    • MPS IV - Morquio syndrome B, organism-specific biosystem (from REACTOME)
      MPS IV - Morquio syndrome B, organism-specific biosystemDefects in beta-galactosidase (GLB1; MIM:611458) can result in GM1 gangliosidosis (GM1; MIM:230500) (Nishimoto et al. 1991) (not described here), with several phenotypes indicating mental deteriorati...
    • MPS IX - Natowicz syndrome, organism-specific biosystem (from REACTOME)
      MPS IX - Natowicz syndrome, organism-specific biosystemMucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hyaluronidase deficiency, MIM:601492) is a rare lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum re...
    • MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystem (from REACTOME)
      MPS VI - Maroteaux-Lamy syndrome, organism-specific biosystemMucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, polydystrophic dwarfism; MIM:253200) is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (AR...
    • MPS VII - Sly syndrome, organism-specific biosystem (from REACTOME)
      MPS VII - Sly syndrome, organism-specific biosystemMucopolysaccharidosis type VII (MPS VII, Sly syndrome, beta-glucuronidase deficiency; MIM:253220) is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme beta-...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of carbohydrates, organism-specific biosystem (from REACTOME)
      Metabolism of carbohydrates, organism-specific biosystemThese pathways together are responsible for: 1) the extraction of energy and carbon skeletons for biosyntheses from dietary sugars and related molecules; 2) the short-term storage of glucose in the b...
    • Mucopolysaccharidoses, organism-specific biosystem (from REACTOME)
      Mucopolysaccharidoses, organism-specific biosystemThe mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders caused by deficiencies of enzymes catalyzing the stepwise degradation of glycosaminoglycans (GAGs, originall...
    • heparan sulfate biosynthesis, organism-specific biosystem (from BIOCYC)
      heparan sulfate biosynthesis, organism-specific biosystem
      heparan sulfate biosynthesis
    • heparan sulfate biosynthesis, conserved biosystem (from BIOCYC)
      heparan sulfate biosynthesis, conserved biosystemBackground |FRAME: Heparan-Sulfate "Heparan sulfate"| is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to...
    • heparan sulfate biosynthesis (late stages), organism-specific biosystem (from BIOCYC)
      heparan sulfate biosynthesis (late stages), organism-specific biosystemBackground : Heparan-Sulfate "Heparan sulfate" is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to cell s...
    • heparan sulfate biosynthesis (late stages), conserved biosystem (from BIOCYC)
      heparan sulfate biosynthesis (late stages), conserved biosystemBackground |FRAME: Heparan-Sulfate "Heparan sulfate"| is a linear polysaccharide found in all animal tissues. It occurs as a proteoglycan in which two or three heparan sulfate chains are attached to...

    Markers

    Homology

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Golgi membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
     
    intrinsic to endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    exostosin-2
    Names
    exostosin-2
    exostosin 2
    multiple exostoses protein 2
    putative tumor suppressor protein EXT2
    N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase
    glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase
    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)

    mRNA and Protein(s)

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

      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, ENST00000395673
      Conserved Domains (2) summary
      pfam09258
      Location:489734
      Blast Score: 958
      Glyco_transf_64; Glycosyl transferase family 64 domain
      pfam03016
      Location:133413
      Blast Score: 565
      Exostosin; Exostosin family
    2. NM_001178083.1NP_001171554.1  exostosin-2 isoform 3

      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, OTTHUMP00000233077, ENST00000358681, OTTHUMT00000390073
      Conserved Domains (2) summary
      pfam09258
      Location:466711
      Blast Score: 952
      Glyco_transf_64; Glycosyl transferase family 64 domain
      pfam03016
      Location:100380
      Blast Score: 562
      Exostosin; Exostosin family
    3. NM_207122.1NP_997005.1  exostosin-2 isoform 2

      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, OTTHUMP00000233074, ENST00000533608, OTTHUMT00000390069
      Conserved Domains (2) summary
      pfam09258
      Location:456701
      Blast Score: 953
      Glyco_transf_64; Glycosyl transferase family 64 domain
      pfam03016
      Location:100380
      Blast Score: 563
      Exostosin; Exostosin family

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000011.9 Reference GRCh37.p10 Primary Assembly

      Range
      44117099..44266980
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000143.1 Alternate HuRef

      Range
      43826189..43975955
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018922.1 Alternate CHM1_1.0

      Range
      44045392..44195211
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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