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EXT2 exostosin glycosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 2132, updated on 4-Jul-2020

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
mouse all

Genomic context

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See EXT2 in Genome Data Viewer
Location:
11p11.2
Exon count:
18
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (44095659..44251981)
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 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 (120) 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. 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.
  2. 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.
  3. 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].
  4. 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.
  5. 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].
  6. 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).
  7. 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.
  8. Exons and flanking regions of the EXT1 and EXT2 genes were analyzed from the genomic DNA of 153 patients in 114 families with multiple osteochondromas. We identified 33 variants in EXT1 (13 frameshift, 11 nonsense, 5 missense, 2 splice site mutation, and 2 large deletions) in and 17 (6 frameshift, 6 splice site mutation, 3 nonsense, 1 missense, and 1 large deletion) in EXT2 gene. Of all 50 variants, 31 (62%) were novel.
    Title: Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.
  9. RT-PCR analysis showed that the overall transcriptional activity of the main Heparan Sulfate biosynthesis-involved genes (EXT1, EXT2, NDST1, NDST2, GLCE, HS2ST1, HS3ST1, HS3ST2, HS6ST1, HS6ST2, SULF1, SULF2, HPSE) was decreased by 1.5-2-fold in Grade II-III glioma.
    Title: Heparan Sulfate Biosynthetic System Is Inhibited in Human Glioma Due to EXT1/2 and HS6ST1/2 Down-Regulation.
  10. The nine mutations identified by targeted next-generation sequencing include two missense mutations (EXT1: c.1088G>A and c.2120C>T), one splicing mutation (EXT2: c.744-1G>T)
    Title: Targeted Next-Generation Sequencing Newly Identifies Mutations in Exostosin-1 and Exostosin-2 Genes of Patients with Multiple Osteochondromas.
Submit: New GeneRIF Correction See all GeneRIFs (68)

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
N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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 
glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA
Inferred from Electronic Annotation
more info
  
glucuronosyltransferase activity IDA
Inferred from Direct Assay
more info
 PubMed 
heparan sulfate N-acetylglucosaminyltransferase activity NAS
Non-traceable Author Statement
more info
 PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
  
protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
NOT protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
transferase activity, transferring glycosyl groups IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
transferase activity, transferring glycosyl groups IDA
Inferred from Direct Assay
more info
 PubMed 
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 IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
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 HDA PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
  
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_997005.1
XP_011518252.1
XP_011518253.1
XP_024304151.1

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.

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

    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:133 → 413
    Exostosin; Exostosin family
    pfam09258
    Location:489 → 723
    Glyco_transf_64; Glycosyl transferase family 64 domain

  2. NM_001178083.2 → 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_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
    ENSP00000431173.1, ENST00000533608.6
    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.

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
    44095659..44251981
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011519951.1 → XP_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:113 → 393
    Exostosin; Exostosin family
    pfam09258
    Location:469 → 703
    Glyco_transf_64; Glycosyl transferase family 64 domain

  2. 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

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

    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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