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DSE Gene

protein-coding   GIFtS: 57
GCID: GC06P116585

Dermatan Sulfate Epimerase

(Previous name: squamous cell carcinoma antigen recognized by T cells 2)
(Previous symbol: SART2)
  See DSE-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Dermatan Sulfate Epimerase1 2     EDSMC22 5
SART21 2 3 5     Squamous Cell Carcinoma Antigen Recognized By T Cells 21
Chondroitin-Glucuronate 5-Epimerase2 3     DSEP2
Squamous Cell Carcinoma Antigen Recognized By T-Cells 22 3     DSEPI2
SART-22 3     Dermatan-Sulfate Epimerase2
DS Epimerase2 3     EC 5.1.3.193

External Ids:    HGNC: 211441   Entrez Gene: 299402   Ensembl: ENSG000001118177   OMIM: 6059425   UniProtKB: Q9UL013   

Export aliases for DSE gene to outside databases

Previous GC identifers: GC06P116708 GC06P116603 GC06P114181 GC06P116578 GC06P116581 GC06P116582 GC06P116583 GC06P116584


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for DSE Gene:
The protein encoded by this gene is a tumor-rejection antigen. 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. This gene product is localized to the endoplasmic reticulum. Two transcript variants
encoding the same protein have been found for this gene. (provided by RefSeq, Jul 2008)

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 cycloplegia. GO annotations related to this gene include chondroitin-glucuronate 5-epimerase activity. An important paralog of this gene is DSEL.

UniProtKB/Swiss-Prot: DSE_HUMAN, Q9UL01
Function: Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues

Gene Wiki entry for DSE Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000006.11  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DSE gene promoter:
         USF1   AML1a   STAT5A   Max   SRY   POU2F1   USF-1   POU2F1a   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSE promoter sequence
   Search Chromatin IP Primers for DSE

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DSE


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q22   Ensembl cytogenetic band:  6q22.1   HGNC cytogenetic band: 6q22

DSE Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSE gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P116585:  view genomic region     (about GC identifiers)

Start:
116,575,336 bp from pter      End:
116,762,424 bp from pter
Size:
187,089 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: DSE_HUMAN, Q9UL01 (See protein sequence)
Recommended Name: Dermatan-sulfate epimerase precursor  
Size: 958 amino acids; 109773 Da
Secondary accessions: Q5R3K6

Explore the universe of human proteins at neXtProt for DSE: NX_Q9UL01

Explore proteomics data for DSE at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn642
  • Modification sites at PhosphoSitePlus

  • See DSE Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001074445.1  NP_037484.1  

    ENSEMBL proteins: 
     ENSP00000397597   ENSP00000404049   ENSP00000332151   ENSP00000446378   ENSP00000441152  
     ENSP00000352567  
    Reactome Protein details: Q9UL01

    DSE Human Recombinant Protein Products:

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    Novus Biologicals DSE Proteins
    Novus Biologicals DSE Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DSE

     
    Search eBioscience for Proteins for DSE 

     
    antibodies-online proteins for DSE (3 products) 

     
    antibodies-online peptides for DSE

    DSE Antibody Products:

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    antibodies-online antibodies for DSE (5 products) 

    DSE Assay Products:

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    Cloud-Clone Corp. ELISAs for DSE
    Cloud-Clone Corp. CLIAs for DSE
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    antibodies-online kits for DSE (13 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR008929 Chondroitin_lyas

    Graphical View of Domain Structure for InterPro Entry Q9UL01

    ProtoNet protein and cluster: Q9UL01

    UniProtKB/Swiss-Prot: DSE_HUMAN, Q9UL01
    Similarity: Belongs to the dermatan-sulfate isomerase family


    Find genes that share domains with DSE           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DSE_HUMAN, Q9UL01
    Function: Converts D-glucuronic acid to L-iduronic acid (IdoUA) residues
    Catalytic activity: Chondroitin D-glucuronate = dermatan L-iduronate

         Enzyme Number (IUBMB): EC 5.1.3.191

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0047757chondroitin-glucuronate 5-epimerase activity IDA16505484
         
    Find genes that share ontologies with DSE           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DSE:
     Increased HDAC inhibitor resis 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dse):
     growth/size/body  integument  limbs/digits/tail  reproductive system 

    Find genes that share phenotypes with DSE           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Dsetm1Mmac for DSE

       genOway: Develop your customized and physiologically relevant rodent model for DSE

    miRNA
    Products:
        
    miRTarBase miRNAs that target DSE:
    hsa-mir-21-5p (MIRT030964)

    Block miRNA regulation of human, mouse, rat DSE using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DSE (see all 11):
    hsa-miR-4307 hsa-miR-3200-5p hsa-miR-448 hsa-miR-507 hsa-miR-587 hsa-miR-153 hsa-miR-9 hsa-miR-129-5p
    SwitchGear 3'UTR luciferase reporter plasmidDSE 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Predesigned siRNA for gene silencing in human, mouse, rat DSE

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): DSE (NM_001080976)
    Sino Biological Human cDNA Clone for DSE
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSE

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSE


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    DSE_HUMAN, Q9UL01: Membrane; Multi-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    golgi apparatus4
    nucleus2
    plasma membrane2
    extracellular1
    lysosome1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS--
    GO:0005783endoplasmic reticulum IDA10679095
    GO:0005794Golgi apparatus IDA10679095
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with DSE           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for DSE About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Chondroitin sulfate/dermatan sulfate metabolism
    Chondroitin sulfate/dermatan sulfate metabolism0.51
    Dermatan sulfate biosynthesis0.00
    Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate0.00
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    4dermatan sulfate biosynthesis
    dermatan sulfate biosynthesis
    dermatan sulfate biosynthesis (late stages)0.00
    5Disease
    Disease


    Find genes that share SuperPaths with DSE           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for DSE
        dermatan sulfate biosynthesis (late stages)
    dermatan sulfate biosynthesis


    1 Reactome Pathway for DSE
        Dermatan sulfate biosynthesis


    2 Kegg Pathways  (Kegg details for DSE):
        Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
    Metabolic pathways

    UniProtKB/Swiss-Prot: DSE_HUMAN, Q9UL01
    Pathway: Glycan metabolism; chondroitin sulfate biosynthesis
    Pathway: Glycan metabolism; heparan sulfate biosynthesis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DSE
    Interactions:

        Search GeneGlobe Interaction Network for DSE

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    Selected Interacting proteins for DSE (ENSP000003321514) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    BCANENSP000003312104STRING: ENSP00000331210
    BGNENSP000003273364STRING: ENSP00000327336
    CHPFENSP000002437764STRING: ENSP00000243776
    CHST14ENSP000003072974STRING: ENSP00000307297
    CHST15ENSP000003339474STRING: ENSP00000333947
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0015012heparan sulfate proteoglycan biosynthetic process IEA--
    GO:0030203glycosaminoglycan metabolic process TAS--
    GO:0030204chondroitin sulfate metabolic process TAS--
    GO:0030206chondroitin sulfate biosynthetic process IEA--

    Find genes that share ontologies with DSE           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for DSE

    5 HMDB Compounds for DSE    About this table
    CompoundSynonyms CAS #PubMed Ids
    ChondroitinChondroitin-D-glucuronate (see all 5)9007-27-6--
    D-Glucuronic acidD-(+)-glucuronate (see all 15)6556-12-3--
    D-Glucurono-6,3-lactoneD-Glucurono-3,6-lactone (see all 18)32449-92-6--
    DermatanChondroitin sulfate B (see all 13)24967-94-0--
    Iduronic acidL-Iduronate (see all 3)3402-98-0--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for DSE gene (2 alternative transcripts): 
    NM_001080976.1  NM_013352.2  

    Unigene Cluster for DSE:

    Dermatan sulfate epimerase
    Hs.458358  [show with all ESTs]
    Unigene Representative Sequence: NM_003309
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000430252(uc003pwq.1) ENST00000607094 ENST00000452085(uc003pws.3)
    ENST00000331677(uc011ebg.2 uc003pwt.3 uc003pwu.3) ENST00000606265
    ENST00000606712 ENST00000540275(uc011ebf.1) ENST00000537543 ENST00000359564

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DSE (see all 11):
    hsa-miR-4307 hsa-miR-3200-5p hsa-miR-448 hsa-miR-507 hsa-miR-587 hsa-miR-153 hsa-miR-9 hsa-miR-129-5p
    SwitchGear 3'UTR luciferase reporter plasmidDSE 3' UTR sequence
    Inhib. RNA
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    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DSE
      QuantiTect SYBR Green Assays in human, mouse, rat DSE
      QuantiFast Probe-based Assays in human, mouse, rat DSE

    Additional mRNA sequence: 

    AF042181.1 AF098066.1 AK095123.1 AK096882.1 AK293872.1 AK298559.1 AK301513.1 AK316303.1 
    AL832471.1 BC039245.1 BC043526.1 CR533535.1 

    Selected DOTS entries (see all 36):

    DT.317026  DT.75130090  DT.95070676  DT.99947066  DT.309644  DT.99943305  DT.100798448  DT.100060249 
    DT.95115225  DT.100798450  DT.87017105  DT.97870393  DT.100060251  DT.100803898  DT.91890461  DT.95232643 
    DT.100709181  DT.100042463  DT.100742632  DT.40122462  DT.95233470  DT.100709193  DT.100703867  DT.100798452 

    Selected AceView cDNA sequences (see all 148):

    NM_013352 AL599182 AI431774 BI461157 AI569987 BQ445872 BX110619 AI927761 
    AI087828 BX348375 AI452787 AF098066 AI393799 AW628136 AA333245 BF982595 
    BQ020889 CF242815 AA665686 BC043526 AI492462 BF917673 AA370599 BC039245 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for DSE    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b
    SP1:              -     -     -     -     -                       -                     
    SP2:                                                              -                     
    SP3:                                                                                    
    SP4:                                                                                    


    ECgene alternative splicing isoforms for DSE

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    DSE expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    DSE Expression
    About this image

    DSE Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DSE Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.458358

    UniProtKB/Swiss-Prot: DSE_HUMAN, Q9UL01
    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)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSE

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for DSE gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dse1 , 5 dermatan sulfate epimerase1, 5 87.43(n)1
    93.94(a)1
      10 (18.85 cM)5
    2128981  NM_172508.21  NP_766096.11 
     341513945 
    chicken
    (Gallus gallus)
    Aves DSE1 dermatan sulfate epimerase 78.78(n)
    85.18(a)
      421745  XM_419777.4  XP_419777.3 
    lizard
    (Anolis carolinensis)
    Reptilia DSE6
    dermatan sulfate epimerase
    83(a)
    1 ↔ 1
    1(186233249-186281507)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.37102 Transcribed sequence with moderate similarity to protein more 77.81(n)    142005898 
    zebrafish
    (Danio rerio)
    Actinopterygii dse1 dermatan sulfate epimerase 65.29(n)
    65.96(a)
      568713  NM_001030225.1  NP_001025396.1 


    ENSEMBL Gene Tree for DSE (if available)
    TreeFam Gene Tree for DSE (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DSE gene
    DSEL2  
    1 SIMAP similar gene for DSE using alignment to 3 protein entries:     DSE_HUMAN (see all proteins):
    DSEL

    Find genes that share paralogs with DSE           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for DSE (see all 9)
    PGOHUM00000259512 PGOHUM00000259674 PGOHUM00000259675 PGOHUM00000260410 PGOHUM00000260494


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for DSE (see all 2817)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1828239771,2
    --116603402(+) AAAAGG/TAATAT 1 -- int10--------
    rs2012328571,2
    --116603521(+) TCCTA-/TTTTTT 1 -- int10--------
    rs1874265101,2
    --116603609(+) ATTAAC/TGTAAT 1 -- int10--------
    rs1429964811,2
    C--116603779(+) TTTGA-/ATATATA 1 -- int10--------
    rs343595931,2
    C--116603780(+) ATATA-/TAGAGAA 1 -- int10--------
    rs1412139071,2
    --116603994(+) TATGTC/GCTATT 1 -- int10--------
    rs1473457481,2
    --116604080(+) TCAGGC/GAGTTA 1 -- int10--------
    rs1394876201,2
    --116604144(+) ATTATA/CGTAGG 1 -- int10--------
    rs1923758991,2
    --116604223(+) TTTACA/GTGACA 1 -- int10--------
    rs1847208601,2
    --116604340(+) GCATTA/GAAGTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for DSE (116575336 - 116762424 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for DSE:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1982590CNV Deletion18987734
    esv2732605CNV Deletion23290073
    esv2732607CNV Deletion23290073
    esv2504683CNV Deletion19546169
    esv2732604CNV Deletion23290073
    nsv348791CNV Loss16902084
    esv5754CNV Loss19470904
    nsv524705CNV Loss19592680
    nsv523972CNV Gain19592680

    Human Gene Mutation Database (HGMD): DSE
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DSE
    DNA2.0 Custom Variant and Variant Library Synthesis for DSE

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 605942   
    OMIM disorders: 615539  
    5 diseases for DSE:    
    About MalaCards
    ehlers-danlos syndrome, musculocontractural type 2    cycloplegia    anisometropia    esophagus squamous cell carcinoma
    amblyopia

    6 diseases from the University of Copenhagen DISEASES database for DSE:
    Astigmatism     Myopia     Anisometropia     Hyperopia
    Amblyopia     Cycloplegia

    Find genes that share disorders with DSE           About GenesLikeMe

    Genetic Association Database (GAD): DSE
    Human Genome Epidemiology (HuGE) Navigator: DSE (4 documents)

    Export disorders for DSE gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for DSE gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with DSE)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Biosynthesis of dermatan sulfate: chondroitin-glucuronate C5- epimerase is identical to SART2. (PubMed id 16505484)1, 2, 3 Maccarana M.... Malmstroem A. (J. Biol. Chem. 2006)
    2. Expression of tumor rejection antigens in colorectal carcinomas. (PubMed id 11920522)1, 3, 9 Sasatomi T....Shirouzu K. (Cancer 2002)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    5. Identification of a gene coding for a new squamous cell carcinoma antigen recognized by the CTL. (PubMed id 10679095)1, 2 Nakao M....Itoh K. (J. Immunol. 2000)
    6. Expression of tumor-rejection antigens in gynecologic cancers. (PubMed id 11092984)1, 9 Tanaka S....Itoh K. (Jpn. J. Cancer Res. 2000)
    7. Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. (PubMed id 23704329)1 MA1ller T....Janecke A.R. (Hum. Mol. Genet. 2013)
    8. Dermatan sulfate is involved in the tumorigenic properties of esophagus squamous cell carcinoma. (PubMed id 22350411)1 Thelin M.A....MalmstrAPm A. (Cancer Res. 2012)
    9. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 29940 HGNC: 21144 AceView: SART2 Ensembl:ENSG00000111817 euGenes: HUgn29940
    ECgene: DSE Kegg: 29940 H-InvDB: DSE

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for DSE Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for DSE gene:
    Search GeneIP for patents involving DSE

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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