EXT2 exostosin glycosyltransferase 2 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

Location:: 11p11.2

Exon count:: 19

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (44095678..44251962)
110	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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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.

Submit: New GeneRIF Correction See all GeneRIFs (77)

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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HSC1YH092 (e-PCR)
- UniSTS:80896

D11S2263E (e-PCR)
- UniSTS:78861

RH45722 (e-PCR)
- UniSTS:48141

D11S4650 (e-PCR)
- UniSTS:37912

D11S903 (e-PCR), detects polymorphism
- UniSTS:2601

RH121355 (e-PCR)
- UniSTS:134201

WI-20248 (e-PCR)
- UniSTS:72780

SHGC-149810 (e-PCR)
- UniSTS:177234

D11S3975 (e-PCR)
- UniSTS:74589

D11S903 (e-PCR), detects polymorphism
- UniSTS:14215

RH98305 (e-PCR)
- UniSTS:84618

STS-N22755 (e-PCR)
- UniSTS:47793

D11S3805 (e-PCR)
- UniSTS:153035

GDB:313855 (e-PCR)
- UniSTS:56811

Homology

Homologs of the EXT2 gene: The EXT2 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, and frog.
Orthologs from Annotation Pipeline: 435 organisms have orthologs with human gene EXT2
Orthologs

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 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 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	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 more info	PubMed
located_in integral component of membrane	IEA Inferred from Electronic Annotation more info
located_in membrane	HDA more info	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

EC 2.4.1.224

EC 2.4.1.225

NP_001171554.1

EC 2.4.1.224

EC 2.4.1.225

NP_001376557.1

EC 2.4.1.224

EC 2.4.1.225

NP_001376559.1

EC 2.4.1.224

EC 2.4.1.225

NP_997005.1

EC 2.4.1.224

EC 2.4.1.225

XP_011518252.1

EC 2.4.1.224

EC 2.4.1.225

XP_047282484.1

EC 2.4.1.224

EC 2.4.1.225

XP_047282485.1

EC 2.4.1.224

EC 2.4.1.225

XP_047282486.1

EC 2.4.1.224

EC 2.4.1.225

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

NG_007560.1 RefSeqGene

Range

5001..154882

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GenBank, FASTA, Sequence Viewer (Graphics), LRG_494

mRNA and Protein(s)

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
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
NM_001389628.1 → NP_001376557.1 exostosin-2 isoform 2

Status: REVIEWED

Source sequence(s)

AC068457, AC103854, AC134775

Consensus CDS

CCDS53618.1

UniProtKB/Swiss-Prot

O15288

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
NM_001389630.1 → NP_001376559.1 exostosin-2 isoform 2

Status: REVIEWED

Source sequence(s)

AC068457, AC103854, AC134775

UniProtKB/Swiss-Prot

O15288

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
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

O15288, 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 Annotation Release 110 details...

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

44095678..44251962

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047426529.1 → XP_047282485.1 exostosin-2 isoform X2
XM_011519950.2 → 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
XM_047426528.1 → XP_047282484.1 exostosin-2 isoform X2
XM_047426530.1 → XP_047282486.1 exostosin-2 isoform X3

UniProtKB/Swiss-Prot

O15288