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 spec... See more...

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
  • Dermatan-Sulfate Epimerase 3 4
  • DS Epimerase 3 4
  • SART-2 3 4
  • SART2 3 4
  • Squamous Cell Carcinoma Antigen Recognized By T Cells 2 2
  • EC 5.1.3.19 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 Musculocontractural Ehlers-Danlos Syndrome. Among its related pathways are Chondroitin sulfate/dermatan sulfate metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include chondroitin-glucuronate 5-epimerase activity. An important paralog of this gene is DSEL.

UniProtKB/Swiss-Prot Summary for DSE Gene

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

Gene Wiki entry for DSE Gene

Additional gene information for DSE Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DSE Gene

Genomics for DSE Gene

GeneHancer (GH) Regulatory Elements for DSE Gene

Promoters and enhancers for DSE Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSE on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DSE

Top Transcription factor binding sites by QIAGEN in the DSE gene promoter:
  • AML1a
  • c-Myc
  • Max
  • POU2F1
  • POU2F1a
  • SRY
  • STAT5A
  • USF-1
  • USF1

Genomic Locations for DSE Gene

Genomic Locations for DSE Gene
chr6:116,254,173-116,444,860
(GRCh38/hg38)
Size:
190,688 bases
Orientation:
Plus strand
chr6:116,575,336-116,762,424
(GRCh37/hg19)
Size:
187,089 bases
Orientation:
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:
    Q9UL01-DSE_HUMAN
    Recommended name:
    Dermatan-sulfate epimerase
    Protein Accession:
    Q9UL01
    Secondary Accessions:
    • Q5R3K6

    Protein attributes for DSE Gene

    Size:
    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 Asn642
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DSE Gene

Domains & Families for DSE Gene

Gene Families for DSE Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DSE Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DSE Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ59186 (B7Z1T3_HUMAN)
  • cDNA FLJ56258, highly similar to Squamous cell carcinoma antigen recognized by T-cells 2 (B7Z765_HUMAN)
  • Squamous cell carcinoma antigen recognized by T-cells 2 (DSE_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UL01

UniProtKB/Swiss-Prot:

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

Function for DSE Gene

Molecular function for DSE Gene

UniProtKB/Swiss-Prot Function:
Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=chondroitin 4'-sulfate = dermatan 4'-sulfate; Xref=Rhea:RHEA:21084, Rhea:RHEA-COMP:9829, Rhea:RHEA-COMP:9965, ChEBI:CHEBI:58422, ChEBI:CHEBI:58465; EC=5.1.3.19;.

Enzyme Numbers (IUBMB) for DSE Gene

Phenotypes From GWAS Catalog 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 IDA 16505484
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:
  • Dse Dse<tm1Mmac>

Clone 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DSE gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 4
cytosol 4
golgi apparatus 4
plasma membrane 2
extracellular 2
cytoskeleton 1
mitochondrion 1
lysosome 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005654 nucleoplasm IDA --
GO:0005783 endoplasmic reticulum IDA 10679095
GO:0005794 Golgi apparatus IDA 10679095
GO:0005829 cytosol IDA --
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 IDA,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

(3) Drugs for DSE Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Abiraterone Approved Pharma Potent CYP17 inhibitor 0
Prednisolone Approved, Vet_approved Pharma Agonist 1491
Chondroitin Pharma 71

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chondroitin D-glucuronate
Dermatan
  • b-Heparin
  • beta-Heparin
  • Chondroitin sulfate b
  • Chondroitin sulfate type b
  • Chondroitin sulphate b
24967-94-0
dermatan L-iduronate
D-Glucuronic acid
  • GlcAa
  • GlcAalpha
  • D-Glucuronate
  • alpha-D-Glucopyranuronic acid
  • alpha-D-Glucuronic acid
6556-12-3
D-Glucurono-6,3-lactone
  • D-Glucurone
  • D-Glucuronic acid
  • D-Glucuronic acid lactone
  • D-glucurono-3,6-Lactone
  • D-Glucuronolactone
32449-92-6
genes like me logo Genes that share compounds with DSE: view

Transcripts for DSE Gene

mRNA/cDNA for DSE Gene

12 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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: -
SP3:
SP4:

Relevant External Links for DSE Gene

GeneLoc Exon Structure for
DSE

Expression for DSE Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for DSE Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DSE

SOURCE GeneReport for Unigene cluster for DSE Gene:

Hs.458358

mRNA Expression by UniProt/SwissProt for DSE Gene:

Q9UL01-DSE_HUMAN
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).

Evidence on tissue expression from TISSUES for DSE Gene

  • Nervous system(4.5)
  • Heart(2.3)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DSE Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • outer ear
  • skull
  • tooth
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
  • testicle
  • ureter
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with DSE: view

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
chimpanzee
(Pan troglodytes)
Mammalia DSE 31 30
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DSE 31 30
  • 91.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DSE 31 30
  • 90.99 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dse 30
  • 88.82 (n)
oppossum
(Monodelphis domestica)
Mammalia DSE 31
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dse 17 31 30
  • 87.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DSE 31
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves DSE 31 30
  • 78.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSE 31
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731195 30
  • 73.12 (n)
Str.3710 30
zebrafish
(Danio rerio)
Actinopterygii dse 31 30
  • 65.29 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToMany
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

ENSEMBL:
Gene Tree for DSE (if available)
TreeFam:
Gene Tree for DSE (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DSE: view image

Paralogs for DSE Gene

Paralogs for DSE Gene

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

  • DSE_HUMAN
  • B7Z1T3_HUMAN
  • B7Z765_HUMAN

Pseudogenes.org Pseudogenes for DSE Gene

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

Variants for DSE Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSE Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
642867 Uncertain Significance: Ehlers-Danlos syndrome, musculocontractural type 2 116,399,605(+) A/C MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT
653778 Uncertain Significance: Ehlers-Danlos syndrome, musculocontractural type 2 116,435,693(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
668223 Benign/Likely Benign: not provided 116,399,466(+) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
668224 Likely Benign: not provided 116,437,119(+) G/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR_VARIANT
668409 Likely Benign: not provided 116,436,550(+) C/T NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for DSE Gene

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)

Additional Variant Information for DSE Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for DSE Gene

MalaCards: The human disease database

(15) MalaCards diseases for DSE Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, musculocontractural type, 2
  • edsmc2
musculocontractural ehlers-danlos syndrome
  • adducted thumb-clubfoot syndrome
ehlers-danlos syndrome
  • cutis hyperelastica
anisometropia
ametropic amblyopia
  • refractive amblyopia
- elite association - COSMIC cancer census association via MalaCards
Search DSE in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DSE_HUMAN
  • 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.

Additional Disease Information for DSE

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 … Malmström A (The Journal of biological chemistry 2006) 2 3 4 54
  2. Expression of tumor rejection antigens in colorectal carcinomas. (PMID: 11920522) Sasatomi T … Shirouzu K (Cancer 2002) 2 3 23 54
  3. Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. (PMID: 23704329) Müller T … Janecke AR (Human molecular genetics 2013) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 54

Products for DSE Gene

Sources for DSE Gene