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DCXR Gene

protein-coding   GIFtS: 63
GCID: GC17M079993

Dicarbonyl/L-Xylulose Reductase

  See DCXR-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
Dicarbonyl/L-Xylulose Reductase1 2 3     DCR2
Carbonyl Reductase II2 3     HCR22
Kidney Dicarbonyl Reductase2 3     HCRII2
Sperm Surface Protein P34H2 3     KIDCR2
XR2 3     SDR20C12
EC 1.1.1.103 8     Carbonyl Reductase 22
P34H2 5     L-Xylulose Reductase2
PNTSU2 5     Short Chain Dehydrogenase/Reductase Family 20C, Member 12
Member 11     kiDCR3
Short Chain Dehydrogenase/Reductase Family 20C1     EC 1.1.18

External Ids:    HGNC: 189851   Entrez Gene: 511812   Ensembl: ENSG000001697387   OMIM: 6083475   UniProtKB: Q7Z4W13   

Export aliases for DCXR gene to outside databases

Previous GC identifers: GC17M079417 GC17M9J0035 GC17M080529 GC17M077587 GC17M075394


(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 DCXR Gene:
The protein encoded by this gene acts as a homotetramer to catalyze diacetyl reductase and L-xylulose reductase
reactions. The encoded protein may play a role in the uronate cycle of glucose metabolism and in the cellular
osmoregulation in the proximal renal tubules. Defects in this gene are a cause of pentosuria. Two transcript
variants encoding different isoforms have been found for this gene.(provided by RefSeq, Aug 2010)

GeneCards Summary for DCXR Gene:
DCXR (dicarbonyl/L-xylulose reductase) is a protein-coding gene. Diseases associated with DCXR include lagophthalmos, and pentosuria. GO annotations related to this gene include oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor and L-xylulose reductase (NADP+) activity. An important paralog of this gene is HPGD.

UniProtKB/Swiss-Prot: DCXR_HUMAN, Q7Z4W1
Function: Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl
compounds and L-xylulose. Participates in the uronate cycle of glucose metabolism. May play a role in the water
absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby
preventing osmolytic stress from occurring in the renal tubules




(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_000017.10  NC_018928.2  NT_010663.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the DCXR gene promoter:
         PPAR-gamma1   AP-1   ATF-2   STAT3   c-Jun   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDCXR promoter sequence
   Search Chromatin IP Primers for DCXR

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


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

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

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M079993:  view genomic region     (about GC identifiers)

Start:
79,993,012 bp from pter      End:
79,995,608 bp from pter
Size:
2,597 bases      Orientation:
minus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DCXR_HUMAN, Q7Z4W1 (See protein sequence)
Recommended Name: L-xylulose reductase  
Size: 244 amino acids; 25913 Da
Subunit: Homotetramer
3 PDB 3D structures from and Proteopedia for DCXR:
1PR9 (3D)        1WNT (3D)        3D3W (3D)    
Secondary accessions: Q9BTZ3 Q9UHY9

Explore the universe of human proteins at neXtProt for DCXR: NX_Q7Z4W1

Explore proteomics data for DCXR at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys161, Lys171
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for DCXR (Q7Z4W1) (see all 7)
     WSDPHKAK  VNPTVVMT  RIPLGKFAEV  ELGPHKIRVN 


    See DCXR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001182147.1  NP_057370.1  

    ENSEMBL proteins: 
     ENSP00000463354   ENSP00000303356   ENSP00000464332   ENSP00000464507   ENSP00000462272  
     ENSP00000464518   ENSP00000462725   ENSP00000462226  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SDRC1: Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1

    4 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002347 Glc/ribitol_DH
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q7Z4W1

    ProtoNet protein and cluster: Q7Z4W1

    2 Blocks protein domains:
    IPB002198 Short-chain dehydrogenase/reductase SDR
    IPB002347 Glucose/ribitol dehydrogenase family signature


    UniProtKB/Swiss-Prot: DCXR_HUMAN, Q7Z4W1
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    Find genes that share domains with DCXR           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: DCXR_HUMAN, Q7Z4W1
    Function: Catalyzes the NADPH-dependent reduction of several pentoses, tetroses, trioses, alpha-dicarbonyl
    compounds and L-xylulose. Participates in the uronate cycle of glucose metabolism. May play a role in the water
    absorption and cellular osmoregulation in the proximal renal tubules by producing xylitol, an osmolyte, thereby
    preventing osmolytic stress from occurring in the renal tubules
    Catalytic activity: Xylitol + NADP(+) = L-xylulose + NADPH

         Enzyme Numbers (IUBMB): EC 1.1.1.101 2 EC 1.1.12

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity ----
    GO:0016614oxidoreductase activity, acting on CH-OH group of donors ----
    GO:0016655oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA19442656
    GO:0050038L-xylulose reductase (NADP+) activity IDA11882650
         
    Find genes that share ontologies with DCXR           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for DCXR:
     Synthetic lethal with Ras 

    Animal Models:
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    (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
    DCXR_HUMAN, Q7Z4W1: Membrane; Peripheral membrane protein (By similarity). Note=Probably recruited to membranes
    via an interaction with phosphatidylinositol (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol2
    mitochondrion2
    extracellular1
    nucleus1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005881cytoplasmic microtubule IDA--
    GO:0005902microvillus IEA--
    GO:0005903brush border IEA--
    GO:0016020membrane IEA--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with DCXR           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 DCXR About    
    See pathways by source

    SuperPathContained pathways About
    1Glucuronidation
    Pentose and glucuronate interconversions0.61
    D-glucuronate degradation I0.00
    2Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with DCXR           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for DCXR
        D-glucuronate degradation I



    2 Kegg Pathways  (Kegg details for DCXR):
        Pentose and glucuronate interconversions
    Metabolic pathways

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

        Search GeneGlobe Interaction Network for DCXR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for DCXR (Q7Z4W13 ENSP000003033564) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DMWDQ090193, ENSP000002702234I2D: score=2 STRING: ENSP00000270223
    GSTK1Q9Y2Q33I2D: score=1 
    TRAF6Q9Y4K33I2D: score=1 
    AKR1B1ENSP000002859304STRING: ENSP00000285930
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005997xylulose metabolic process IDA11882650
    GO:0006006glucose metabolic process IDA11882650
    GO:0006739NADP metabolic process IEA--
    GO:0008152metabolic process ----
    GO:0042732D-xylose metabolic process IEA--

    Find genes that share ontologies with DCXR           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
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      Browse compounds at ApexBio 

    Browse Tocris compounds for DCXR

    4 HMDB Compounds for DCXR    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-XylitolD-Xylitol (see all 20)87-99-0--
    L-Threo-2-pentuloseL-Xylulose 527-50-4--
    NADPAdenine-nicotinamide dinucleotide phosphate (see all 18)53-59-8--
    NADPH2'-(dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide (see all 23)53-57-6--

    2 DrugBank Compounds for DCXR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2'-Monophosphoadenosine 5'-Diphosphoribose-- --target--17139284 17016423 10592235
    Dihydrogenphosphate Ion-- 29505-79-1target--17139284 17016423

    9 Novoseek inferred chemical compound relationships for DCXR gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    xylulose 97.2 49 11882650 (4), 15103634 (2), 12890481 (2), 15598553 (2) (see all 17)
    3alpha-hydroxysteroid 72.4 1 16547389 (1)
    guanidino 69 3 12890481 (1), 15906319 (1)
    xylitol 67.4 4 12555554 (1), 7872840 (1)
    carboxylate 54.7 3 12890481 (1), 15906319 (1)
    xylose 42.3 4 12555554 (1), 7872840 (1)
    butyrate 41.8 1 12668014 (1)
    glucose 17.5 10 12555554 (2), 15103634 (1), 11882650 (1), 7872840 (1) (see all 5)
    carbon 4.73 8 12555554 (2), 7872840 (2)



    Find genes that share compounds with DCXR           About GenesLikeMe



    (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 DCXR gene (2 alternative transcripts): 
    NM_001195218.1  NM_016286.3  

    Unigene Cluster for DCXR:

    Dicarbonyl/L-xylulose reductase
    Hs.9857  [show with all ESTs]
    Unigene Representative Sequence: BM918881
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000577532 ENST00000306869(uc021ufk.1 uc002kdg.3) ENST00000579004
    ENST00000579334 ENST00000580320 ENST00000577286 ENST00000579842 ENST00000580750
    ENST00000578885 ENST00000582074 ENST00000581584 ENST00000578273 ENST00000582900
    ENST00000579821 ENST00000585085 ENST00000577996 ENST00000577712 ENST00000579155

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    Additional mRNA sequence: 

    AB013846.1 AF113123.1 AF139841.1 AF515623.1 AF515624.1 AF515625.1 AK226040.1 BC001470.2 
    BC003018.1 BT006881.1 

    17 DOTS entries:

    DT.453111  DT.100810876  DT.100810878  DT.92439766  DT.100029667  DT.95311994  DT.100810875  DT.92439779 
    DT.100810874  DT.100810873  DT.86856439  DT.92439767  DT.92439780  DT.95311992  DT.95312030  DT.100810872 
    DT.95098798 

    Selected AceView cDNA sequences (see all 330):

    BM126961 BM708453 AA433946 BM910773 AA134203 BM798947 CN483334 AF515623 
    BC003018 BE207053 BQ069175 AA431169 BQ962380 AA432189 BQ426071 BC001470 
    AI160878 H93999 BM795570 BQ071566 AI083879 BE264422 BF793108 BQ053415 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DCXR (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b
    SP1:                    -     -                                                               
    SP2:                    -                                                                     
    SP3:                                                                                          
    SP4:                    -     -                                                               
    SP5:        -           -     -                                                               


    ECgene alternative splicing isoforms for DCXR

    (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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    DCXR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGTGCTCAT
    DCXR Expression
    About this image


    DCXR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 10) fully expand
     
     Ovary (Reproductive System)
             Oviduct
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Blood (Hematopoietic System)
             Natural Killer Cells Peripheral Blood
    DCXR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DCXR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.9857

    UniProtKB/Swiss-Prot: DCXR_HUMAN, Q7Z4W1
    Tissue specificity: Highly expressed in kidney, liver and epididymis. In the epididymis, it is mainly expressed in
    the proximal and distal sections of the corpus region. Weakly or not expressed in brain, lung, heart, spleen and
    testis

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    In Situ
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    (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 animals.

    Orthologs for DCXR gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dcxr1 , 5 dicarbonyl L-xylulose reductase1, 5 82.85(n)1
    84.77(a)1
      11 (84.47 cM)5
    678801  NM_026428.21  NP_080704.21 
     1207253995 
    chicken
    (Gallus gallus)
    Aves DCXR1 dicarbonyl/L-xylulose reductase 70.83(n)
    72.92(a)
      374066  NM_204225.1  NP_989556.1 
    lizard
    (Anolis carolinensis)
    Reptilia DCXR6
    dicarbonyl/L-xylulose reductase
    72(a)
    1 ↔ 1
    2(118191017-118196883)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.63902 Xenopus laevis transcribed sequence with moderate similarity more 74.22(n)    CD255107.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dcxr1 dicarbonyl/L-xylulose reductase 65.85(n)
    69.26(a)
      550282  NM_001017619.1  NP_001017619.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG73221 , 3 oxidoreductase, acting on CH-OH group
    of donors3
    CG73221
    46(a)3
    56.22(n)1
    50.64(a)1
      328801  NM_001272764.11  NP_001259693.11 
    worm
    (Caenorhabditis elegans)
    Secernentea dhs-211 dhs-21 52.18(n)
    50.21(a)
      179741  NM_073781.6  NP_506182.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DCXR gene
    HPGD2  DECR22  CBR42  PECR2  HSD17B142  DHRS22  HSD17B102  DHRS42  
    BDH22  DHRS4L22  HSD17B82  DECR12  
    5 SIMAP similar genes for DCXR using alignment to 8 protein entries:     DCXR_HUMAN (see all proteins):
    DHRS4L2    BDH2    HSD17B8    DHRS4    DHRS4L1

    Find genes that share paralogs with DCXR           About GenesLikeMe



    (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 DCXR (see all 141)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs561697541,2
    C,F--79996746(+) CTTAGA/CAGACT 2 -- us2k15Minor allele frequency- C:0.26CSA WA NA EA 360
    rs617473941,2
    C,F--79997073(+) GGAAGC/GGCCCC 2 -- us2k13Minor allele frequency- G:0.07NS CSA 79
    rs1906511241,2
    --81108271(+) ATGCTC/GATTAC 2 -- ds50010--------
    rs1827376931,2
    --81108353(+) CTCAGA/GTCACC 2 -- ds50010--------
    rs603903791,2
    C--81108358(+) ATCACC/TGACGA 2 -- ds50016Minor allele frequency- T:0.28CSA WA NA EA 363
    rs774873771,2
    C--81108359(+) TCACCG/CACGAA 2 -- ds50012Minor allele frequency- C:0.03WA 120
    rs1433029771,2
    --81108361(+) ACCGAC/TGAAGT 2 -- ds50010--------
    rs783242811,2
    C,F--81108378(+) GCTTGA/GCGTTC 2 -- ds50016Minor allele frequency- G:0.27CSA WA NA EA 362
    rs728617501,2
    C,F--81108382(+) GACGTT/CCTCCT 2 -- ds50016Minor allele frequency- C:0.27CSA WA NA EA 362
    rs1483202831,2
    --81108415(+) TTAGCA/TTGAAG 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for DCXR (79993012 - 79995608 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for DCXR (see all 26):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv909134CNV Loss21882294
    dgv3349n71CNV Loss21882294
    dgv3346n71CNV Loss21882294
    dgv3341n71CNV Loss21882294
    dgv3333n71CNV Loss21882294
    nsv909161CNV Loss21882294
    dgv3340n71CNV Loss21882294
    dgv3332n71CNV Loss21882294
    dgv3344n71CNV Loss21882294
    nsv457975CNV Loss19166990

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

    (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.)
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    OMIM gene information: 608347   
    OMIM disorders: 260800  
    UniProtKB/Swiss-Prot: DCXR_HUMAN, Q7Z4W1
  • Note=The enzyme defect in pentosuria has been shown to involve L-xylulose reductase. Essential pentosuria
    is an inborn error of metabolism characterized by the excessive urinary excretion of the pentose L-xylulose

  • 9 diseases for DCXR:    
    About MalaCards
    lagophthalmos    pentosuria    expressive language disorder    dacryocystocele
    lacrimal duct obstruction    excessive tearing    prostate adenocarcinoma    dacryocystitis
    ureteral obstruction

    6 diseases from the University of Copenhagen DISEASES database for DCXR:
    Dacryocystitis     Dacryocystocele     Excessive tearing     Lacrimal duct obstruction
    Lagophthalmos     Expressive language disorder

    Find genes that share disorders with DCXR           About GenesLikeMe


    Export disorders for DCXR 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)
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    PubMed articles for DCXR gene, integrated from 10 sources (see all 49):
    (articles sorted by number of sources associating them with DCXR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular characterization of mammalian dicarbonyl/L-xylulose reductase and its localization in kidney. (PubMed id 11882650)1, 2, 3, 9 Nakagawa J.... Kitamura K. (J. Biol. Chem. 2002)
    2. Crystal structure of human L-xylulose reductase holoenzyme: probing the role of Asn107 with site-directed mutagenesis. (PubMed id 15103634)1, 2, 9 El-Kabbani O.... Hara A. (Proteins 2004)
    3. Molecular cloning of human sperm surface protein P34H gene and semi- quantitative analysis of its expression in testis and epididymidis. (PubMed id 12680326)1, 2, 9 Xia X.Y.... Huang Y.F. (Zhonghua Nan Ke Xue 2003)
    4. The SDR (short-chain dehydrogenase/reductase and related enzymes) nomenclature initiative. (PubMed id 19027726)1, 3 Persson B.... Oppermann U. (Chem. Biol. Interact. 2009)
    5. 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)
    6. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (Nat. Biotechnol. 2003)
    7. Crystallization and preliminary crystallographic analysis of human L- xylulose reductase. (PubMed id 12136162)1, 2 El-Kabbani O....Hara A. (Acta Crystallogr. D 2002)
    8. P34H sperm protein is preferentially expressed by the human corpus epididymidis. (PubMed id 10385429)1, 2 Legare C.... Sullivan R. (Endocrinology 1999)
    9. Expression of dicarbonyl/L-xylulose reductase (DCXR) in human skin and melanocytic lesions: morphological studies supporting cell adhesion function of DCXR. (PubMed id 17576332)1, 9 Cho-Vega J.H....Prieto V.G. (J. Cutan. Pathol. 2007)
    10. Dicarbonyl/L-xylulose reductase: a potential biomarker identified by laser-capture microdissection-micro serial analysis of gene expression of human prostate adenocarcinoma. (PubMed id 18086765)1, 9 Cho-Vega J.H....McDonnell T.J. (amp 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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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)
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    Entrez Gene: 51181 HGNC: 18985 AceView: DCXR Ensembl:ENSG00000169738 euGenes: HUgn51181
    ECgene: DCXR Kegg: 51181 H-InvDB: DCXR

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for DCXR Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DCXR gene:
    Search GeneIP for patents involving DCXR

    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, LSBio, eBioscience, 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 inGenious Targeting Laboratory, genOway)
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