DSE Gene - Dermatan Sulfate Epimerase
Comprehensive genomic and functional analysis of DSE, a key enzyme in dermatan sulfate biosynthesis.
Gene Information Card
| Symbol | DSE |
|---|---|
| Full Name | Dermatan Sulfate Epimerase |
| Gene Type | protein-coding |
| Chromosomal Location | 6q22.1 |
| NCBI Gene ID | 29940 ncbi.nlm.nih.gov/gene/29940 |
| Ensembl ID | ENSG00000111817 |
| UniProt ID | Q9UL01 |
| OMIM ID | 605942 |
| HGNC ID | 21144 |
| Aliases | DS-epi1, SART2, DSEP |
Description
The DSE gene encodes dermatan sulfate epimerase, an enzyme that converts D-glucuronic acid to L-iduronic acid during dermatan sulfate biosynthesis. This epimerization is critical for the structural diversity and function of glycosaminoglycans in the extracellular matrix. DSE is also known as SART2 (squamous cell carcinoma antigen recognized by T cells 2) and is involved in immune recognition. Mutations in DSE are associated with Ehlers-Danlos syndrome, musculocontractural type 2.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ehlers-Danlos syndrome, musculocontractural type 2 | Loss-of-function mutations in DSE impair dermatan sulfate synthesis, leading to connective tissue fragility and developmental abnormalities. | OMIM #615539; multiple case reports (e.g., Müller et al., 2013) |
| Squamous cell carcinoma | DSE (SART2) encodes a tumor antigen recognized by cytotoxic T lymphocytes; expression may influence immune surveillance. | NCBI Gene; literature on SART2 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Brain | 8.3 | Low |
| Liver | 6.1 | Low |
| Lung | 15.2 | Medium |
| Kidney | 10.7 | Medium |
| Testis | 20.4 | High |
| Placenta | 18.9 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.3 | High expression |
| HeLa | 14.1 | Medium expression |
| A549 | 11.5 | Medium expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.497G>A (p.Arg166His) | Missense | Rare | Loss of epimerase activity; associated with Ehlers-Danlos syndrome |
| c.1048C>T (p.Arg350*) | Nonsense | Rare | Premature truncation; loss of function |
| c.1246_1247del (p.Leu416Glufs*2) | Frameshift | Rare | Loss of function; reported in EDS |
Mutation functional classification
Loss of Function (LOF)
Missense, nonsense, and frameshift mutations that reduce or abolish epimerase activity, leading to impaired dermatan sulfate synthesis and connective tissue disorders.
Gain of Function (GOF)
Not reported for DSE.
Dominant Negative (DN)
Not reported for DSE.
View complete mutation data：
Gene Ontology (GO)
| • catalytic activity (GO:0003824) | • endoplasmic reticulum (GO:0005783) |
| • Golgi apparatus (GO:0005794) | • isomerase activity (GO:0016853) |
| • glycosaminoglycan metabolic process (GO:0030203) | • chondroitin sulfate biosynthetic process (GO:0030206) |
| • dermatan sulfate biosynthetic process (GO:0030207) |
Pathways
• Chondroitin sulfate / dermatan sulfate biosynthesis (Reactome: R-HSA-1971475)
• Glycosaminoglycan metabolism (KEGG: hsa00532)
Protein Summary
Dermatan sulfate epimerase (UniProt Q9UL01) is a 595-amino acid type II transmembrane protein localized to the Golgi apparatus. It catalyzes the epimerization of D-glucuronic acid to L-iduronic acid in dermatan sulfate chains. The enzyme is essential for the structural diversity of proteoglycans and influences extracellular matrix organization, cell signaling, and tumor immunity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DSE Knockout HEK293 Cell Line | EDJ-KQ9091 | Human | 29940 | Details Get a Quote |
| DSEL Knockout HEK293 Cell Line | EDJ-KQ10843 | Human | 92126 | Details Get a Quote |
| DSE Knockout A-549 Cell Line | EDJ-KQ35591 | Human | 29940 | Details Get a Quote |
| DSE Knockout HCT 116 Cell Line | EDJ-KQ35592 | Human | 29940 | Details Get a Quote |
| DSE Knockout HeLa Cell Line | EDJ-KQ35593 | Human | 29940 | Details Get a Quote |
| DSEL Knockout HeLa Cell Line | EDJ-KQ38504 | Human | 92126 | Details Get a Quote |
| DSEL Knockout A-549 Cell Line | EDJ-KQ66321 | Human | 92126 | Details Get a Quote |
| DSEL Knockout HCT 116 Cell Line | EDJ-KQ74745 | Human | 92126 | Details Get a Quote |
