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Aliases for DSE Gene

Aliases for DSE Gene

  • Dermatan Sulfate Epimerase 2 3 5
  • Squamous Cell Carcinoma Antigen Recognized By T-Cells 2 3 4
  • Chondroitin-Glucuronate 5-Epimerase 3 4
  • DS Epimerase 3 4
  • SART-2 3 4
  • SART2 3 4
  • Squamous Cell Carcinoma Antigen Recognized By T Cells 2 2
  • Dermatan-Sulfate Epimerase 3
  • EC 4
  • DS-Epi1 3
  • EDSMC2 3
  • DSEPI 3
  • DSEP 3

External Ids for DSE Gene

Previous HGNC Symbols for DSE Gene

  • SART2

Previous GeneCards Identifiers for DSE Gene

  • GC06P116708
  • GC06P116603
  • GC06P114181
  • GC06P116578
  • GC06P116581
  • GC06P116582
  • GC06P116583
  • GC06P116584
  • GC06P116585

Summaries for DSE Gene

Entrez Gene Summary for DSE Gene

  • The protein encoded by this gene is a tumor-rejection antigen. It is localized to the endoplasmic reticulum and functions to convert D-glucuronic acid to L-iduronic acid during the biosynthesis of dermatan sulfate. This antigen possesses tumor epitopes capable of inducing HLA-A24-restricted and tumor-specific cytotoxic T lymphocytes in cancer patients and may be useful for specific immunotherapy. Mutations in this gene cause inmusculocontractural Ehlers-Danlos syndrome. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 9, and a paralogous gene exists on chromosome 18. [provided by RefSeq, Apr 2016]

GeneCards Summary for DSE Gene

DSE (Dermatan Sulfate Epimerase) is a Protein Coding gene. Diseases associated with DSE include Ehlers-Danlos Syndrome, Musculocontractural Type 2 and Ehlers-Danlos Syndrome, Musculocontractural Type. Among its related pathways are Metabolism and Chondroitin sulfate/dermatan sulfate metabolism. GO annotations related to this gene include chondroitin-glucuronate 5-epimerase activity. An important paralog of this gene is DSEL.

UniProtKB/Swiss-Prot for DSE Gene

  • Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues.

Gene Wiki entry for DSE Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSE Gene

Genomics for DSE Gene

Regulatory Elements for DSE Gene

Enhancers for DSE Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06F116384 1.3 FANTOM5 Ensembl ENCODE 27.9 +135.2 135184 9.9 PKNOX1 WRNIP1 ZNF2 RAD21 ZNF366 ETV6 FOS CREM ZNF263 YY2 DSE FAM26F FAM26D CBX3P9 KRT18P22 ENSG00000244158 ENSG00000234117 TRAPPC3L ENSG00000240050 TSPYL1
GH06F116369 0.2 ENCODE 26.7 +118.2 118220 5.9 PKNOX1 SIN3A ZNF2 ZNF121 GLIS2 ZNF263 SP3 REST ZNF488 ZSCAN16 DSE FAM26D ENSG00000234117 ENSG00000240050 TSPYL4 FRK RSPH4A PIR33476 PIR34878
GH06F116424 0.6 FANTOM5 Ensembl 23.3 +170.1 170068 0.3 NFE2 FOS MAFK NFE2L2 DSE FAM26F FAM26D CBX3P9 KRT18P22 ENSG00000244158 TRAPPC3L ENSG00000234117 ZUFSP PIR34878
GH06F116250 0.5 ENCODE 20.6 -0.6 -634 5.9 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 ZNF143 SP3 ZHX2 REST TSPYL4 DSE ENSG00000240050 KPNA5 ENSG00000234117 TSPYL1 RSPH4A GC06M116250
GH06F116228 1.5 FANTOM5 Ensembl ENCODE 19.5 -24.7 -24689 1.1 ELF3 PKNOX1 ATF1 MLX SIN3A ARID4B BMI1 THRB YY1 RFX5 DSE TSPYL4 KPNA5 TSPYL1 PIR35709 GC06P116234 GC06P116233 COL10A1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DSE on UCSC Golden Path with GeneCards custom track

Promoters for DSE Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for DSE Gene

116,254,173 bp from pter
116,444,860 bp from pter
190,688 bases
Plus strand

Genomic View for DSE Gene

Genes around DSE on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSE Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSE Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DSE Gene

Proteins for DSE Gene

  • Protein details for DSE Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Dermatan-sulfate epimerase
    Protein Accession:
    Secondary Accessions:
    • Q5R3K6

    Protein attributes for DSE Gene

    958 amino acids
    Molecular mass:
    109773 Da
    Quaternary structure:
    No Data Available

neXtProt entry for DSE Gene

Post-translational modifications for DSE Gene

  • Glycosylation at Asn 642
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DSE Gene

Domains & Families for DSE Gene

Protein Domains for DSE Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the dermatan-sulfate isomerase family.
  • Belongs to the dermatan-sulfate isomerase family.
genes like me logo Genes that share domains with DSE: view

No data available for Gene Families for DSE Gene

Function for DSE Gene

Molecular function for DSE Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Chondroitin D-glucuronate = dermatan L-iduronate.
UniProtKB/Swiss-Prot Function:
Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues.

Enzyme Numbers (IUBMB) for DSE Gene

Gene Ontology (GO) - Molecular Function for DSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016853 isomerase activity IEA --
GO:0047757 chondroitin-glucuronate 5-epimerase activity TAS --
genes like me logo Genes that share ontologies with DSE: view
genes like me logo Genes that share phenotypes with DSE: view

Human Phenotype Ontology for DSE Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DSE Gene

MGI Knock Outs for DSE:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for DSE Gene

Localization for DSE Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSE Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

Jensen Localization Image for DSE Gene COMPARTMENTS Subcellular localization image for DSE gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 4
nucleus 3
cytosol 2
plasma membrane 2
extracellular 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005783 endoplasmic reticulum IDA 10679095
GO:0005794 Golgi apparatus IDA 10679095
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DSE: view

Pathways & Interactions for DSE Gene

genes like me logo Genes that share pathways with DSE: view

UniProtKB/Swiss-Prot Q9UL01-DSE_HUMAN

  • Pathway: Glycan metabolism; chondroitin sulfate biosynthesis.
  • Pathway: Glycan metabolism; heparan sulfate biosynthesis.

Gene Ontology (GO) - Biological Process for DSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015012 heparan sulfate proteoglycan biosynthetic process IEA --
GO:0030206 chondroitin sulfate biosynthetic process IEA --
GO:0030208 dermatan sulfate biosynthetic process TAS --
genes like me logo Genes that share ontologies with DSE: view

No data available for SIGNOR curated interactions for DSE Gene

Drugs & Compounds for DSE Gene

(2) Drugs for DSE Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
D-Glucuronic acid Experimental Pharma 0
Chondroitin Nutra 43

(5) Additional Compounds for DSE Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chondroitin D-glucuronate
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate B
  • Chondroitin sulfate type B
  • Chondroitin sulphate B
dermatan L-iduronate
  • D-Glucurone
  • D-Glucuronic acid
  • D-Glucuronic acid lactone (van)
  • D-Glucurono-3,6-lactone
  • D-Glucuronolactone
Iduronic acid
  • Iduronate
  • L-Iduronate
  • L-Iduronic acid
genes like me logo Genes that share compounds with DSE: view

Transcripts for DSE Gene

Unigene Clusters for DSE Gene

Dermatan sulfate epimerase:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DSE Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b
SP1: - - - - - -
SP2: -

Relevant External Links for DSE Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DSE Gene

mRNA expression in normal human tissues for DSE Gene

Protein differential expression in normal tissues from HIPED for DSE Gene

This gene is overexpressed in Adipocyte (28.8), Bone marrow mesenchymal stem cell (17.3), Prostate (11.9), and Peripheral blood mononuclear cells (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DSE Gene

NURSA nuclear receptor signaling pathways regulating expression of DSE Gene:


SOURCE GeneReport for Unigene cluster for DSE Gene:


mRNA Expression by UniProt/SwissProt for DSE Gene:

Tissue specificity: Ubiquitously expressed with higher expression in kidney and ovary and lower expression in brain, colon and thymus. Also expressed in renal cell carcinomas, brain tumors, and in a part of melanomas and adenocarcinomas from organs other than the breast. Expressed in squamous cell carcinomas (SCC), glioma, and some adenocarcinoma cell lines, but not in breast cancer cell lines or any normal tissues (at protein level).
genes like me logo Genes that share expression patterns with DSE: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for DSE Gene

Orthologs for DSE Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSE Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DSE 34 35
  • 99.41 (n)
(Canis familiaris)
Mammalia DSE 34 35
  • 91.61 (n)
(Bos Taurus)
Mammalia DSE 34 35
  • 90.99 (n)
(Rattus norvegicus)
Mammalia Dse 34
  • 88.82 (n)
(Monodelphis domestica)
Mammalia DSE 35
  • 88 (a)
(Mus musculus)
Mammalia Dse 34 16 35
  • 87.43 (n)
(Ornithorhynchus anatinus)
Mammalia DSE 35
  • 80 (a)
(Gallus gallus)
Aves DSE 34 35
  • 78.78 (n)
(Anolis carolinensis)
Reptilia DSE 35
  • 83 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731195 34
  • 73.12 (n)
Str.3710 34
(Danio rerio)
Actinopterygii dse 34 35
  • 65.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 30 (a)
Species where no ortholog for DSE was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for DSE Gene

Gene Tree for DSE (if available)
Gene Tree for DSE (if available)

Paralogs for DSE Gene

Paralogs for DSE Gene

(1) SIMAP similar genes for DSE Gene using alignment to 3 proteins: Pseudogenes for DSE Gene

genes like me logo Genes that share paralogs with DSE: view

Variants for DSE Gene

Sequence variations from dbSNP and Humsavar for DSE Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs398122361 Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) [MIM:615539], Pathogenic 116,431,086(+) TAGAT(C/T)ACTCT intron-variant, nc-transcript-variant, reference, missense
rs1006053 -- 116,425,263(+) acgaa(A/T)tttaa intron-variant
rs1013206 -- 116,287,536(+) attag(A/G)tgaaa intron-variant
rs1013207 -- 116,272,134(+) atcaa(A/T)aggtt intron-variant
rs10223646 -- 116,296,236(+) CATAT(C/T)TAATA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DSE Gene

Variant ID Type Subtype PubMed ID
dgv3368n106 CNV deletion 24896259
esv1982590 CNV deletion 18987734
esv2504683 CNV deletion 19546169
esv2732604 CNV deletion 23290073
esv2732605 CNV deletion 23290073
esv2732607 CNV deletion 23290073
esv3284162 CNV deletion 24192839
esv3540351 CNV deletion 23714750
esv3576211 CNV gain 25503493
esv5754 CNV loss 19470904
nsv1074955 CNV deletion 25765185
nsv348791 CNV deletion 16902084
nsv471929 CNV novel sequence insertion 20440878
nsv523972 CNV gain 19592680
nsv524705 CNV loss 19592680
nsv956507 CNV deletion 24416366
nsv965759 CNV duplication 23825009

Variation tolerance for DSE Gene

Residual Variation Intolerance Score: 38.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.56; 86.08% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DSE Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSE Gene

Disorders for DSE Gene

MalaCards: The human disease database

(6) MalaCards diseases for DSE Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, musculocontractural type 2
  • ehlers-danlos syndrome musculocontractural type 2
ehlers-danlos syndrome, musculocontractural type
  • ehlers-danlos syndrome, musculocontractural type 1
esophagus squamous cell carcinoma
  • esophageal squamous cell carcinoma
ehlers-danlos syndrome
  • cutis hyperelastica
- elite association - COSMIC cancer census association via MalaCards
Search DSE in MalaCards View complete list of genes associated with diseases


  • Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) [MIM:615539]: A form of Ehlers-Danlos syndrome characterized by progressive multisystem manifestations, including joint dislocations and deformities, skin hyperextensibility, skin bruisability and fragility with recurrent large subcutaneous hematomas, cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications. Motor developmental delay is associated with muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood. {ECO:0000269 PubMed:23704329}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DSE

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DSE: view

No data available for Genatlas for DSE Gene

Publications for DSE Gene

  1. Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5- epimerase is identical to SART2. (PMID: 16505484) Maccarana M. … Malmstroem A. (J. Biol. Chem. 2006) 2 3 4 64
  2. Expression of tumor rejection antigens in colorectal carcinomas. (PMID: 11920522) Sasatomi T. … Shirouzu K. (Cancer 2002) 2 3 22 64
  3. Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. (PMID: 23704329) MA1ller T. … Janecke A.R. (Hum. Mol. Genet. 2013) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall A.J. … Beck S. (Nature 2003) 3 4 64

Products for DSE Gene

Sources for DSE Gene

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