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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
DSE
dermatan sulfate epimerase
Chromosome 6 Β· 6q22.1
NCBI Gene: 29940Ensembl: ENSG00000111817.19HGNC: HGNC:21144UniProt: A0A2R8YE23
38PubMed Papers
21Diseases
0Drugs
13Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
endoplasmic reticulumGolgi apparatusdermatan sulfate proteoglycan biosynthetic processchondroitin-glucuronate 5-epimerase activityEhlers-Danlos syndrome, musculocontractural typesudden infant death-dysgenesis of the testes syndromegenetic disordersprain
✦AI Summary

DSE (dermatan sulfate epimerase) functions as a C5 epimerase that converts D-glucuronic acid to L-iduronic acid residues in chondroitin sulfate chains, playing a crucial role in dermatan sulfate biosynthesis 1. The enzyme catalyzes the formation of chondroitin sulfate/dermatan sulfate (CS/DS) hybrid chains and directly mediates DS chain formation in cells 2. DSE expression shows significant clinical relevance in cancer biology, where it is upregulated in gliomas and associated with advanced tumor grade and poor survival 2. In glioblastoma, DSE promotes aggressive cellular phenotypes including proliferation, migration, and invasion by selectively regulating heparin-binding EGF-like growth factor (HB-EGF)-induced signaling through the ErbB pathway 2. Conversely, in melanoma, DSE is downregulated in tumor tissues, and high DSE expression inhibits tumor progression by promoting immune cell infiltration and regulating VCAN expression 1. DSE is also associated with musculocontractural Ehlers-Danlos syndrome, where pathogenic variants cause a milder phenotype compared to CHST14 mutations, characterized by craniofacial features, joint contractures, and connective tissue fragility without major cardiovascular or respiratory complications 3. The tissue-specific and context-dependent roles of DSE highlight its importance in both normal development and disease pathogenesis.

Sources cited
1
DSE is a C5 epiminase that converts chondroitin sulfate into dermal sulfate and is downregulated in melanoma where high expression inhibits progression
PMID: 37833287
2
DSE catalyzes CS/DS hybrid chain formation, is upregulated in gliomas with poor prognosis, and promotes malignant phenotypes via HB-EGF/ErbB signaling
PMID: 29864158
3
Pathogenic DSE variants cause musculocontractural Ehlers-Danlos syndrome with a milder phenotype than CHST14 mutations
PMID: 31655143
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
Ehlers-Danlos syndrome, musculocontractural typeOpen Targets
0.68Moderate
sudden infant death-dysgenesis of the testes syndromeOpen Targets
0.48Moderate
genetic disorderOpen Targets
0.42Moderate
sprainOpen Targets
0.26Weak
systemic lupus erythematosusOpen Targets
0.25Weak
brain compressionOpen Targets
0.21Weak
edemaOpen Targets
0.21Weak
Ehlers-Danlos syndromeOpen Targets
0.19Weak
gliomaOpen Targets
0.08Suggestive
melanomaOpen Targets
0.07Suggestive
celiac diseaseOpen Targets
0.07Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.07Suggestive
asthmaOpen Targets
0.06Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.06Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.06Suggestive
IRIDA syndromeOpen Targets
0.05Suggestive
microcytic anemia with liver iron overloadOpen Targets
0.05Suggestive
dehydrated hereditary stomatocytosisOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.05Suggestive
ulcerative colitisOpen Targets
0.05Suggestive
Ehlers-Danlos syndrome, musculocontractural type 2UniProt
Pathogenic Variants13
NM_013352.4(DSE):c.416+1G>ALikely pathogenic
not provided|Ehlers-Danlos syndrome, musculocontractural type 2
β˜…β˜…β˜†β˜†2025
NM_013352.4(DSE):c.811del (p.Gln271fs)Pathogenic
Ehlers-Danlos syndrome, musculocontractural type 2
β˜…β˜†β˜†β˜†2025β†’ Residue 271
NM_013352.4(DSE):c.480del (p.Ala161fs)Pathogenic
Ehlers-Danlos syndrome, musculocontractural type 2
β˜…β˜†β˜†β˜†2025β†’ Residue 161
NM_013352.4(DSE):c.406C>T (p.Gln136Ter)Pathogenic
Ehlers-Danlos syndrome, musculocontractural type 2
β˜…β˜†β˜†β˜†2025β†’ Residue 136
NM_013352.4(DSE):c.874C>T (p.Gln292Ter)Pathogenic
Ehlers-Danlos syndrome, musculocontractural type 2
β˜…β˜†β˜†β˜†2025β†’ Residue 292
NM_013352.4(DSE):c.2097G>A (p.Trp699Ter)Likely pathogenic
Ehlers-Danlos syndrome, musculocontractural type 2
β˜…β˜†β˜†β˜†2024β†’ Residue 699
NM_013352.4(DSE):c.2091C>G (p.Tyr697Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 697
NM_013352.4(DSE):c.2428C>T (p.Arg810Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 810
NM_013352.4(DSE):c.22dup (p.Ala8fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 8
NM_013352.4(DSE):c.2538_2541del (p.Lys846fs)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2021β†’ Residue 846
NM_013352.4(DSE):c.387del (p.Asp128_Tyr129insTer)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2018β†’ Residue 128
NM_013352.4(DSE):c.799A>G (p.Arg267Gly)Pathogenic
Ehlers-Danlos syndrome, musculocontractural type 2
β˜†β˜†β˜†β˜†2017β†’ Residue 267
NM_013352.4(DSE):c.803C>T (p.Ser268Leu)Pathogenic
Ehlers-Danlos syndrome, musculocontractural type 2
β˜†β˜†β˜†β˜†2013β†’ Residue 268
View on ClinVar β†—
Related Genes
SLC39A7Protein interaction88%MAGEC1Protein interaction83%SART1Protein interaction81%CHST14Protein interaction73%HS6ST3Shared pathway50%DSELShared pathway50%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
89%
Ovary
69%
Brain
41%
Heart
41%
Liver
34%
Gene Interaction Network
Click a node to explore
DSESLC39A7MAGEC1SART1CHST14HS6ST3DSEL
PROTEIN STRUCTURE
Preparing viewer…
PDB6HZN Β· 2.41 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.56Moderately Constrained
pLIβ“˜
0.06Tolerant
Observed/Expected LoF0.43 [0.33–0.56]
RankingsWhere DSE stands among ~20K protein-coding genes
  • #10,462of 20,598
    Most Researched38
  • #2,625of 5,498
    Most Pathogenic Variants13
  • #3,667of 17,882
    Most Constrained (LOEUF)0.56 Β· top quartile
Genes detectedDSE
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Dobutamine Stress Echocardiography in Low-Gradient Aortic Stenosis.
PMID: 38972614
J Am Soc Echocardiogr Β· 2024
1.00
2
DSE associated musculocontractural EDS, a milder phenotype or phenotypic variability.
PMID: 31655143
Eur J Med Genet Β· 2020
0.90
3
Endocannabinoid-mediated short-term synaptic plasticity: depolarization-induced suppression of inhibition (DSI) and depolarization-induced suppression of excitation (DSE).
PMID: 15100161
Br J Pharmacol Β· 2004
0.80
4
A functional human Poly(A) site requires only a potent DSE and an A-rich upstream sequence.
PMID: 20339349
EMBO J Β· 2010
0.70
5
Two-dimensional ECG-based cardiac arrhythmia classification using DSE-ResNet.
PMID: 36008568
Sci Rep Β· 2022
0.60