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Gene

EXT2

exostosin glycosyltransferase 2

Summary

Cytogenetic location
11p11.2
Coordinates
Chromosome 11: 44,095,678–44,251,962 (GRCh38)
Exons
14 exons across 156.3 kb
Protein
718 amino acids
Inheritance
Autosomal dominant
Also known as
SOTV
MANE Select transcript
ENST00000533608.7NM_207122.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Hereditary Multiple Osteochondromas

    • Autosomal dominant

      A condition caused mainly by variants in EXT1 or EXT2 in which benign cartilage-capped bone growths develop at the ends of long bones.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows monitoring for growth problems and for the small lifetime risk (around 2 to 5%) that an osteochondroma becomes a chondrosarcoma.

Broader groupings

  • Congenital Disorders of Glycosylation

    • Congenital Disorders of Glycosylation (CDG)

      One of 98 genes linked to it

      A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

      • 2 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How EXT2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where EXT2 sits. EXT2 and 7 genes near it on chromosome 11, from 43,673,820 to 44,673,819.Chromosome 1111p11.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2543.8 Mb44 Mb44.2 Mb44.4 Mb44.6 MbHSD17B12: 43,680,509–43,857,741, forward strandHSD17B12ALKBH3: 43,880,811–43,920,370, forward strandALKBH3C11orf96: 43,942,637–43,943,878, forward strandC11orf96ACCSL: 44,047,981–44,059,977, forward strandACCSLACCS: 44,065,916–44,086,590, forward strandACCSEXT2: 44,095,678–44,251,962, forward strandEXT2ALX4: 44,260,440–44,310,139, reverse strandALX4CD82: 44,564,414–44,621,071, forward strandCD82Diagram of EXT2: 14 exons on the forward strand of chromosome 11Exon 2: 47 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 4: 13 known disease-causing sitesExon 5: 22 known disease-causing sitesExon 6: 14 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 8: 15 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 11: 8 known disease-causing sitesExon 12: 6 known disease-causing sitesExon 13: 1 known disease-causing siteExon 1: 44,095,678–44,095,852, 175 basesExon 2: 44,107,683–44,108,248, 566 basesExon 3: 44,109,194–44,109,283, 90 basesExon 4: 44,114,185–44,114,301, 117 basesExon 5: 44,124,789–44,124,984, 196 basesExon 6: 44,126,816–44,126,955, 140 basesExon 7: 44,130,045–44,130,138, 94 basesExon 8: 44,171,611–44,171,742, 132 basesExon 9: 44,197,829–44,198,018, 190 basesExon 10: 44,206,793–44,206,959, 167 basesExon 11: 44,232,353–44,232,496, 144 basesExon 12: 44,234,115–44,234,243, 129 basesExon 13: 44,236,293–44,236,375, 83 basesExon 14: 44,244,149–44,251,962, 7,814 bases124681012145′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 10 kb of the gene's 156.3 kb; 2,157 of those bases code for the protein.

How a genome test reads EXT2

179

positions in EXT2 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 156.3 kb of EXT2, introns included, not only the 10 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). EXT2 gene: exostosin glycosyltransferase 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/ext2

Vancouver

Dante Labs. EXT2 gene: exostosin glycosyltransferase 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ext2

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