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EXT2 exostosin glycosyltransferase 2 [ Homo sapiens (human) ]

Gene ID: 2132, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (44095678..44251962)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (44251025..44407303)
105.20220307 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
  • 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. Clinical survey of a pedigree with hereditary multiple exostoses and identification of EXT‑2 gene deletion mutation. Wang W, et al. Mol Med Rep, 2022 Apr. PMID 35211766, Free PMC Article
  2. Identification of a novel EXT2 frameshift mutation in a family with hereditary multiple exostoses by whole-exome sequencing. Yang M, et al. J Clin Lab Anal, 2021 Sep. PMID 34403521, Free PMC Article
  3. A Novel Intronic Splicing Mutation in the EXT2 Gene of a Chinese Family with Multiple Osteochondroma. Guo X, et al. Genet Test Mol Biomarkers, 2021 Jul. PMID 34280007
  4. [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
  5. 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

See all (138) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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.
Submit: New GeneRIF Correction See all GeneRIFs (79)

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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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_2023_10

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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