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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 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 Glycosaminoglycan 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 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 , fRNAdb sequence ontologies and piRNA Summary for DSE Gene

Genomics for DSE Gene

GeneHancer (GH) Regulatory Elements for DSE Gene

Promoters and enhancers for DSE Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I116276 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 550.3 +25.0 25012 5.6 HDGF FOXA2 SMAD1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 TSPYL1 PIR59102 ENSG00000240050 DSE CALHM6 TSPYL4 CALHM4 TRAPPC3L KRT18P22 CBX3P9
GH06I116369 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 576.7 +118.2 118220 5.9 SIN3A ZNF2 ZNF121 GLIS2 ATF7 RUNX3 KLF13 SP3 REST ZNF488 DSE CALHM4 ENSG00000234117 ENSG00000240050 TSPYL4 FRK RSPH4A PIR33476 PIR34878
GH06I116250 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 570.6 -0.6 -633 5.9 HDGF PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 YY1 POLR2B TSPYL4 DSE ENSG00000237021 KPNA5 ENSG00000234117 TSPYL1 ENSG00000240050 RSPH4A GC06M116250
GH06I116384 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 27.9 +135.3 135283 9.7 PKNOX1 MZF1 BATF IRF4 ZNF366 ATF7 ETV6 FOS BCLAF1 IKZF2 DSE CALHM6 CALHM4 CBX3P9 KRT18P22 ENSG00000244158 ENSG00000234117 TRAPPC3L ENSG00000240050 TSPYL1
GH06I116461 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 17.7 +209.5 209481 4.5 MXI1 MAX BACH1 BMI1 E2F1 CTBP1 ZNF316 POLR2A SCRT2 IKZF2 CALHM6 ENSG00000244158 DSE ENSG00000234117 TRAPPC3L RWDD1 TSPYL1 ZUFSP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DSE on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DSE gene promoter:

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)

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

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 membrane proteins
  • Predicted secreted proteins

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

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

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 TAS,IDA --
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:

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 5
cytosol 5
golgi apparatus 4
plasma membrane 2
extracellular 2
peroxisome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (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

(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 48

(5) 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
Iduronic acid
  • Iduronate
  • L-Iduronate
  • L-Iduronic acid
3402-98-0
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 from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for DSE Gene



NURSA nuclear receptor signaling pathways regulating expression of DSE Gene:

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
Organs:
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 33 34
  • 99.41 (n)
dog
(Canis familiaris)
Mammalia DSE 34 33
  • 91.61 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DSE 34 33
  • 90.99 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dse 33
  • 88.82 (n)
oppossum
(Monodelphis domestica)
Mammalia DSE 34
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dse 16 34 33
  • 87.43 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DSE 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves DSE 34 33
  • 78.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSE 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC101731195 33
  • 73.12 (n)
Str.3710 33
zebrafish
(Danio rerio)
Actinopterygii dse 33 34
  • 65.29 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for DSE Gene

Paralogs for DSE Gene

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

Pseudogenes.org 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 Variation AA Info Type
rs111252008 benign, Ehlers-Danlos syndrome, musculocontractural type 2 116,437,085(+) GGGGG/GG 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, inframe_deletion, non_coding_transcript_variant
rs398122361 pathogenic, Ehlers-Danlos syndrome, musculocontractural type 2, Ehlers-Danlos syndrome, musculocontractural type 2 (EDSMC2) [MIM:615539] 116,431,086(+) C/T coding_sequence_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant
rs560644 benign, Ehlers-Danlos syndrome, musculocontractural type 2 116,436,394(+) T/C 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs1057524403 likely-benign, not specified 116,437,015(+) C/T 3_prime_UTR_variant, coding_sequence_variant, genic_downstream_transcript_variant, non_coding_transcript_variant, synonymous_variant
rs376761852 likely-benign, not specified 116,431,213(+) G/A genic_downstream_transcript_variant, 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)

Additional Variant Information for DSE Gene

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

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ehlers-danlos syndrome, musculocontractural type, 2
  • edsmc2
musculocontractural ehlers-danlos syndrome
  • adducted thumb-clubfoot syndrome
esophagus squamous cell carcinoma
  • esophageal squamous cell carcinoma
ehlers-danlos syndrome
  • cutis hyperelastica
anisometropia
- 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 58
  2. Expression of tumor rejection antigens in colorectal carcinomas. (PMID: 11920522) Sasatomi T … Shirouzu K (Cancer 2002) 2 3 22 58
  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 58
  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 58
  5. The DNA sequence and analysis of human chromosome 6. (PMID: 14574404) Mungall AJ … Beck S (Nature 2003) 3 4 58

Products for DSE Gene

Sources for DSE Gene

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