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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
  • 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 Ehlers-Danlos Syndrome, Musculocontractural Type. Among its related pathways are Glycosaminoglycan metabolism and 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around DSE on UCSC Golden Path with GeneCards custom track

Genomic Location for DSE Gene

Chromosome:
6
Start:
116,254,173 bp from pter
End:
116,444,860 bp from pter
Size:
190,688 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

Proteomics data for DSE Gene at MOPED

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

InterPro:
ProtoNet:

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

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

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

No data available for Gene Ontology (GO) - Molecular Function , 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
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:0005783 endoplasmic reticulum IDA 10679095
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.

Interacting Proteins for DSE Gene

Gene Ontology (GO) - Biological Process for DSE Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process TAS --
GO:0030203 glycosaminoglycan metabolic process TAS --
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

(3) Drugs for DSE Gene - From: HMDB

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

(4) 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-Glucurono-6,3-lactone
  • D-Glucurone
  • D-Glucuronic acid
  • D-Glucuronic acid lactone (van)
  • 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

Unigene Clusters for DSE Gene

Dermatan sulfate epimerase:
Representative Sequences:

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
ECgene alternative splicing isoforms for
DSE

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



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).
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
cow
(Bos Taurus)
Mammalia DSE 35
  • 90.99 (n)
  • 95.09 (a)
DSE 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSE 35
  • 91.61 (n)
  • 96.14 (a)
DSE 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dse 35
  • 87.43 (n)
  • 93.94 (a)
Dse 16
Dse 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DSE 35
  • 99.41 (n)
  • 99.16 (a)
DSE 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dse 35
  • 88.82 (n)
  • 94.15 (a)
oppossum
(Monodelphis domestica)
Mammalia DSE 36
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSE 36
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves DSE 35
  • 78.78 (n)
  • 85.18 (a)
DSE 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSE 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731195 35
  • 73.12 (n)
  • 77.33 (a)
Str.3710 35
zebrafish
(Danio rerio)
Actinopterygii dse 35
  • 65.29 (n)
  • 65.96 (a)
dse 36
  • 66 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 30 (a)
OneToMany
Species with no ortholog for DSE:
  • 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)

Paralogs for DSE Gene

Paralogs for DSE Gene

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

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
rs10485183 - 116,399,324(+) CATCA(C/T)CGACG reference, missense, utr-variant-5-prime
rs35548455 - 116,399,351(-) TGAAG(A/C/G)GAATC reference, missense, utr-variant-5-prime
rs34994230 - 116,431,127(-) GTTGA(C/T)GTTGA intron-variant, reference, missense
VAR_070911 Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2)
rs1013206 -- 116,287,536(+) attag(A/G)tgaaa intron-variant

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

Variant ID Type Subtype PubMed ID
nsv523972 CNV Gain 19592680
esv2732604 CNV Deletion 23290073
esv2732605 CNV Deletion 23290073
nsv524705 CNV Loss 19592680
esv2504683 CNV Deletion 19546169
esv1982590 CNV Deletion 18987734
esv2732607 CNV Deletion 23290073
nsv348791 CNV Loss 16902084
esv5754 CNV Loss 19470904

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)
DSE

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

Disorders for DSE Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, musculocontractural type 2
  • edsmc2
ehlers-danlos syndrome, musculocontractural type
  • ehlers-danlos syndrome, musculocontractural type 1
ehlers-danlos syndrome
  • cutis hyperelastica
anisometropia
cycloplegia
  • ciliary muscle paresis
- 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.

Relevant External Links for DSE

Genetic Association Database (GAD)
DSE
Human Genome Epidemiology (HuGE) Navigator
DSE
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DSE
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 67
  2. Expression of tumor rejection antigens in colorectal carcinomas. (PMID: 11920522) Sasatomi T. … Shirouzu K. (Cancer 2002) 2 3 23
  3. Expression of tumor-rejection antigens in gynecologic cancers. (PMID: 11092984) Tanaka S. … Itoh K. (Jpn. J. Cancer Res. 2000) 3 23
  4. Deciphering the Mode of Action of the Processive Polysaccharide Modifying Enzyme Dermatan Sulfate Epimerase 1 by Hydrogen-Deuterium Exchange Mass Spectrometry. (PMID: 26900446) Tykesson E. … MalmstrAPm A. (Chem Sci 2016) 3
  5. Genetic heterogeneity and clinical variability in musculocontractural ehlers-danlos syndrome caused by impaired dermatan sulfate biosynthesis. (PMID: 25703627) Syx D. … Malfait F. (Hum. Mutat. 2015) 3

Products for DSE Gene

Sources for DSE Gene

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