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Gene

DSE

dermatan sulfate epimerase

Summary

Cytogenetic location
6q22.1
Coordinates
Chromosome 6: 116,370,947–116,444,861 (GRCh38)
Exons
6 exons across 73.9 kb
Protein
958 amino acids
Also known as
DSEPI, DS-Epi1
Previous symbols
SART2
MANE Select transcript
ENST00000644252.3NM_013352.4
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

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.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

How DSE is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where DSE sits. DSE and 17 genes near it on chromosome 6, from 115,907,904 to 116,907,903.Chromosome 66q22.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27116 Mb116.2 Mb116.4 Mb116.6 Mb116.8 MbFRK: 115,931,149–116,061,093, reverse strandFRKNT5DC1: 116,100,804–116,249,497, forward strandNT5DC1COL10A1: 116,118,909–116,158,747, reverse strandCOL10A1TSPYL4: 116,249,964–116,254,075, reverse strandTSPYL4TSPYL1: 116,267,760–116,279,930, reverse strandTSPYL1DSE: 116,370,947–116,444,861, forward strandDSE: 116,399,395–116,463,696, forward strandCALHM6: 116,461,365–116,466,082, forward strandCALHM6TRAPPC3L: 116,494,989–116,545,684, reverse strandTRAPPC3LCALHM5: 116,511,604–116,524,788, forward strandCALHM5CALHM4: 116,529,013–116,561,127, forward strandCALHM4RWDD1: 116,571,386–116,598,204, forward strandRWDD1RSPH4A: 116,616,474–116,634,765, forward strandRSPH4AZUP1: 116,635,616–116,668,816, reverse strandZUP1KPNA5: 116,681,149–116,741,867, forward strandKPNA5FAM162B: 116,724,567–116,765,833, reverse strandFAM162BGPRC6A: 116,792,085–116,829,083, reverse strandGPRC6ARFX6: 116,877,212–116,933,069, forward strandRFX6Diagram of DSE: 6 exons on the forward strand of chromosome 6Exon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 4: 2 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 1: 116,370,947–116,371,121, 175 basesExon 2: 116,399,198–116,399,666, 469 basesExon 3: 116,426,574–116,426,827, 254 basesExon 4: 116,430,954–116,431,193, 240 basesExon 5: 116,433,343–116,433,550, 208 basesExon 6: 116,435,587–116,444,861, 9,275 bases1234565′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 10.6 kb of the gene's 73.9 kb; 2,877 of those bases code for the protein.

How a genome test reads DSE

7

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

2 of them (29%) fall in regions short reads find hard.

  • Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (2 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 73.9 kb of DSE, introns included, not only the 10.6 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.). DSE gene: dermatan sulfate epimerase. Retrieved 16 October 2026, from https://dantelabs.com/genes/dse

Vancouver

Dante Labs. DSE gene: dermatan sulfate epimerase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dse

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