Ext2 exostosin glycosyltransferase 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ext2provided by MGI
Official Full Name: exostosin glycosyltransferase 2provided by MGI
Primary source: MGI:MGI:108050
See related: Ensembl:ENSMUSG00000027198 AllianceGenome:MGI:108050
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Summary: Enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity; and protein homodimerization activity. Acts upstream of or within with a positive effect on gene expression; protein N-linked glycosylation; and sulfation. Acts upstream of or within several processes, including heparin biosynthetic process; multicellular organismal-level water homeostasis; and skeletal system development. Located in Golgi apparatus and endoplasmic reticulum. Is expressed in several structures, including alimentary system; central nervous system; ear; genitourinary system; and respiratory system. Used to study hereditary multiple exostoses. Orthologous to human EXT2 (exostosin glycosyltransferase 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in ovary adult (RPKM 29.4), limb E14.5 (RPKM 23.3) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 2 E1; 2 51.62 cM

Exon count:: 17

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (93525978..93652913, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (93695631..93822568, complement)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Using mouse embryonic stem cell-derived mosaic tissues with compartments that lack Exostosin1 and Exostosin2, or Glypican5, it has been shown that Shh accumulates around its source cells when they are surrounded by cells that have a mutated extracellular matrix.
Title: Loss of the Heparan Sulfate Proteoglycan Glypican5 Facilitates Long-Range Sonic Hedgehog Signaling.
Let-7b-mediated suppression of initiation codon depends on the length of 5'-UTR of EXT2 mRNA and its suppression is inhibited in the presence of polyamines.
Title: Polyamines release the let-7b-mediated suppression of initiation codon recognition during the protein synthesis of EXT2.
Heterozygous loss of function of EXT1 and EXT2 results in a decreased arteriolar endothelial glycocalyx but improved flow mediated vasodilation.
Title: Loss of function in heparan sulfate elongation genes EXT1 and EXT 2 results in improved nitric oxide bioavailability and endothelial function.
The study indicates that formation of stereotypic exostoses requires a significant, but not complete, loss of Ext expression.
Title: Compound heterozygous loss of Ext1 and Ext2 is sufficient for formation of multiple exostoses in mouse ribs and long bones.
NDST1 competes with EXT1 for binding to EXT2.
Title: Heparan sulfate biosynthesis enzymes EXT1 and EXT2 affect NDST1 expression and heparan sulfate sulfation.
The EXT2 gene encodes an essential component of the glycosyltransferase complex required for biosynthesis of heparan sulfate, which may eventually modulate the signaling involved in bone formation
Title: Transgenic expression of the EXT2 gene in developing chondrocytes enhances the synthesis of heparan sulfate and bone formation in mice.
EXT2 peaks during early postnatal period in the cerebrum and around birth in the cerebellum. EXT2 was localized primarily in the neuroepithelial cells surrounding the lateral ventricles, the mesencephalic vesicle, and the fourth ventricle.
Title: Gene expression of EXT1 and EXT2 during mouse brain development.
Mutant embryos developed normally until embryonic day 6.0, when they became growth arrested and failed to gastrulate, pointing to the early essential role for heparan sulfate in developing embryos.
Title: Mice deficient in Ext2 lack heparan sulfate and develop exostoses.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ext2 (e-PCR), detects polymorphism
- UniSTS:143047

U72141 (e-PCR)
- UniSTS:178655

AI893565 (e-PCR)
- UniSTS:178656

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IC Inferred by Curator more info	PubMed
enables N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
contributes_to N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	ISO Inferred from Sequence Orthology more info
contributes_to N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables acetylglucosaminyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to acetylglucosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IC Inferred by Curator more info	PubMed
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	IGI Inferred from Genetic Interaction more info	PubMed
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity	ISS Inferred from Sequence or Structural Similarity more info
enables glucuronosyltransferase activity	IDA Inferred from Direct Assay more info	PubMed
enables glucuronosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables glycosyltransferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables glycosyltransferase activity	ISO Inferred from Sequence Orthology more info
enables heparan sulfate N-acetylglucosaminyltransferase activity	IC Inferred by Curator 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	IEA Inferred from Electronic Annotation more info
enables protein heterodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within cellular response to fibroblast growth factor stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within chondrocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within endochondral bone morphogenesis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within fluid transport	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within_positive_effect gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within_positive_effect gene expression	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in glycosaminoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within heart contraction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within heparan sulfate proteoglycan biosynthetic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heparan sulfate proteoglycan biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	ISO Inferred from Sequence Orthology more info
involved_in heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within heparin biosynthetic process	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within mesoderm formation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within multicellular organismal-level water homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
involved_in ossification	IEA Inferred from Electronic Annotation more info
involved_in ossification	ISO Inferred from Sequence Orthology more info
involved_in polysaccharide biosynthetic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within_positive_effect protein N-linked glycosylation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of blood pressure	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within sodium ion homeostasis	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within_positive_effect sulfation	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within vasodilation	IGI Inferred from Genetic Interaction more info	PubMed

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	PubMed
is_active_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi apparatus	ISO Inferred from Sequence Orthology more info
located_in Golgi membrane	IC Inferred by Curator more info	PubMed
part_of UDP-N-acetylglucosamine transferase complex	IEA Inferred from Electronic Annotation more info
part_of UDP-N-acetylglucosamine transferase complex	ISO Inferred from Sequence Orthology more info
part_of catalytic complex	ISO Inferred from Sequence Orthology more info
part_of catalytic complex	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info	PubMed
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum membrane	IC Inferred by Curator more info	PubMed
located_in extracellular region	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: exostosin-2

Names: exostoses (multiple) 2; glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase; multiple exostoses protein 2 homolog

NP_001342004.2

EC 2.4.1.224

NP_001342005.1

EC 2.4.1.224

NP_001404002.1

EC 2.4.1.224

NP_001404003.1

EC 2.4.1.224

NP_001404004.1

EC 2.4.1.224

NP_001404005.1

EC 2.4.1.224

NP_001404006.1

EC 2.4.1.224

NP_034293.2

EC 2.4.1.224

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.

mRNA and Protein(s)

NM_001355075.2 → NP_001342004.2 exostosin-2 isoform 2

Status: VALIDATED

Source sequence(s)

AL732472, AL732493

UniProtKB/Swiss-Prot

P70395, P70428, Q3TPI7, Q923D6
NM_001355076.2 → NP_001342005.1 exostosin-2 isoform 3

Status: VALIDATED

Source sequence(s)

AL732472, AL732493

UniProtKB/TrEMBL

V9GX32

Related

ENSMUST00000123649.8

Conserved Domains (2) summary

pfam03016
Location:100 → 380

Exostosin; Exostosin family

pfam09258
Location:456 → 554

Glyco_transf_64; Glycosyl transferase family 64 domain
NM_001417073.1 → NP_001404002.1 exostosin-2 isoform 2

Status: VALIDATED

Source sequence(s)

AL732472, AL732493

UniProtKB/Swiss-Prot

P70395, P70428, Q3TPI7, Q923D6
NM_001417074.1 → NP_001404003.1 exostosin-2 isoform 2

Status: VALIDATED

Source sequence(s)

AL732472, AL732493

UniProtKB/Swiss-Prot

P70395, P70428, Q3TPI7, Q923D6
NM_001417075.1 → NP_001404004.1 exostosin-2 isoform 2

Status: VALIDATED

Source sequence(s)

AL732472, AL732493

UniProtKB/Swiss-Prot

P70395, P70428, Q3TPI7, Q923D6
NM_001417076.1 → NP_001404005.1 exostosin-2 isoform 4

Status: VALIDATED

Source sequence(s)

AL732472, AL732493
NM_001417077.1 → NP_001404006.1 exostosin-2 isoform 4

Status: VALIDATED

Source sequence(s)

AL732472, AL732493
NM_010163.4 → NP_034293.2 exostosin-2 isoform 2

See identical proteins and their annotated locations for NP_034293.2

Status: VALIDATED

Source sequence(s)

AL732472, AL732493

Consensus CDS

CCDS16456.1

UniProtKB/Swiss-Prot

P70395, P70428, Q3TPI7, Q923D6

UniProtKB/TrEMBL

Q3UFQ0

Related

ENSMUSP00000028623.7, ENSMUST00000028623.13

Conserved Domains (2) summary

pfam03016
Location:100 → 380

Exostosin; Exostosin family

pfam09258
Location:456 → 697

Glyco_transf_64; Glycosyl transferase family 64 domain