• 3
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
EXT2 (HGNC:3513) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
exostosin glycosyltransferase 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
SOTV
%HI
14.77(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.77(Read more about gnomAD LOEUF score)
Cytoband
11p11.2
Genomic Coordinates
GRCh37/hg19: chr11:44117228-44273512 NCBI Ensembl UCSC
GRCh38/hg38: chr11:44095678-44251962 NCBI Ensembl UCSC
MANE Select Transcript
NM_207122.2 ENST00000533608.7 (Read more about MANE Select)
Function
Glycosyltransferase forming with EXT1 the heterodimeric heparan sulfate polymerase which catalyzes the elongation of the heparan sulfate glycan backbone (PubMed:22660413, PubMed:36402845, PubMed:36593275). Glycan backbone extension consists in the alternating transfer of (1->4)-beta-D-GlcA and (1->4)-alpha-D-GlcNAc residues from their respective UDP-sugar donors. Both EXT1 and EXT2 are required for the full activity of the polymerase since EXT1 bears the N- acetylglucosaminyl-proteoglycan 4-beta... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13752
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Sufficient Evidence for Haploinsufficiency (3)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
06/23/2020

Haploinsufficiency (HI) Score Details

HI Score:
3
HI Evidence Strength:
Sufficient Evidence for Haploinsufficiency (Disclaimer)
HI Disease:
HI Evidence:
  • PUBMED: 29529714
    In 2018, Santos et al. used Sanger sequencing and Multiplex ligation-dependent probe amplification (MLPA) on 153 Brazilian patients in 114 families with multiple osteochondromas (MO) to identify variants in EXT1 and EXT2. The authors identified variants in EXT2 in 53 of the 114 unrelated individuals with MO. 17 of these variants were unique. Of these variants, 6 were frameshifts, 1 was a missense variant, 3 were nonsense, 6 were splice site variants, and 1 was a large deletion.
  • PUBMED: 30334991
    In 2018, Li et al. used Sanger sequencing and Multiplex ligation-dependent probe amplification (MLPA) on unrelated individuals from 73 families with hereditary multiple osteochondroma (HMO) to identify variants in EXT1 and EXT2. Analysis identified 25 unique variants in EXT2 in 29 families. Of these, 4 were frameshifts, 13 were nonsense variants, 4 were splice site variants, and 1 was a large deletion.
  • PUBMED: 28690282
    In 2017, Guo et al. used targeted next-generation sequencing (t-NGS) and Sanger sequencing on 10 patients with multiple osteochondromas (MO) to identify potential variants in EXT1 and EXT2. The authors identified 3 variants in EXT2. Of these, 1 was a splice site variant and 2 were nonsense variants.
HI Evidence Comments:
Many types of heterozygous loss of function variants (nonsense, frameshift, splice site, and deletions) have been reported in individuals with Hereditary Multiple Osteochondromas (aka Hereditary Multiple Exostoses). See GeneReviews.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)