EXT2 exostosin glycosyltransferase 2

Gene ID: 2132, updated on 3-Apr-2024
Gene type: protein coding
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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Exostoses, multiple, type 2 MedGen: C1851413OMIM: 133701GeneReviews: Hereditary Multiple Osteochondromas	See labs
Seizures-scoliosis-macrocephaly syndrome MedGen: C4225248OMIM: 616682GeneReviews: Not available	See 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

Genomic context

Location:: 11p11.2

Sequence:: Chromosome: 11; NC_000011.10 (44095678..44251962)

Total number of exons:: 19

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for EXT2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
EXT2 gene homepage
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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