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EXT2 exostosin glycosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 2132, updated on 19-Jul-2021

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
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
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Genomic context

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See EXT2 in Genome Data Viewer
Location:
11p11.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (44095678..44251962)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (44117228..44273512)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) like Neighboring gene 1-aminocyclopropane-1-carboxylate synthase homolog (inactive) Neighboring gene VISTA enhancer hs2090 Neighboring gene ALX homeobox 4 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
  • 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. [Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis]. You Y, et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi, 2019 Aug 10. PMID 31400121
  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 (124) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.
    Title: Identification of Novel Mutations in the <i>EXT1</i> and <i>EXT2</i> Genes of Chinese Patients with Hereditary Multiple Osteochondromas.
  2. Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
    Title: Mutation spectrum of EXT1 and EXT2 in the Saudi patients with hereditary multiple exostoses.
  3. Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.
    Title: Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.
  4. AREXT2 (autosomal recessive EXT2-related syndrome) can be considered as a multiorgan Congenital Disorder of Glycosylation caused by a significant, but non-lethal, decrease in EXT2 expression, thereby affecting the synthesis of the heparan sulfate proteoglycans, which is relevant in many physiological processes.
    Title: Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype.
  5. a novel frameshift mutation in EXT2 is identified in a fourth-generation Korean family with multiple osteochondromas
    Title: Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
  6. a heterozygous missense variation in the exon 1 and a heterozygous frameshift variation in exon 6 of EXT1 are associated with hereditary multiple exostosis
    Title: [Identification of pathogenic variations in two Chinese pedigrees affected with hereditary multiple exostosis].
  7. identification of mutations in EXT1 and EXT2 in Cypriot patients with a clinical diagnosis of hereditary multiple osteochondromas (HMO); five patients, representing the first report of genetic screening of HMO affected individuals in the Cypriot population are described
    Title: Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary multiple osteochondromas.
  8. Mutations of the EXT1 and EXT2 genes probably underlie the hereditary multiple exostosis in both pedigrees
    Title: [Analysis of EXT1 and EXT2 gene mutations in two Chinese pedigrees affected with hereditary multiple exostosis].
  9. A novel EXT2 mutation was identified in a family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia.
    Title: 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).
  10. The present study identified pathogenic mutations in 93% (68/73) of unrelated hereditary multiple osteochondromasprobands from 73 pedigrees. Mutations in EXT1 and EXT2 were identified in 53% (39/73) and 40% (29/73) of families.
    Title: Heterogeneous spectrum of EXT gene mutations in Chinese patients with hereditary multiple osteochondromas.
Submit: New GeneRIF Correction See all GeneRIFs (71)

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
Multiple exostoses type 2
MedGen: C1851413 OMIM: 133701 GeneReviews: Hereditary Multiple Osteochondromas
Compare labs
Seizures, scoliosis, and 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
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
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 IEA
Inferred from Electronic Annotation
more info
  
enables glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables glycosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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 cell differentiation IEA
Inferred from Electronic Annotation
more info
  
involved_in cellular polysaccharide biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular response to fibroblast growth factor stimulus 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 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 water homeostasis IEA
Inferred from Electronic Annotation
more info
  
involved_in ossification IMP
Inferred from Mutant Phenotype
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 signal transduction TAS
Traceable Author Statement
more info
 PubMed 
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
 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 
located_in endoplasmic reticulum ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in extracellular exosome HDA PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
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
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_024304151.1

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/Swiss-Prot
    Q93063
    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/Swiss-Prot
    Q93063
    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
    CCDS53618.1
    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
    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
    Q93063
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

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

mRNA and Protein(s)

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

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

  2. XM_024448383.1 → XP_024304151.1  exostosin-2 isoform X3

    Related
    ENSP00000507677.1, ENST00000684039.1
    Conserved Domains (1) summary
    pfam03016
    Location:146 → 426
    Exostosin; Exostosin family
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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