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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

QDPR Gene

protein-coding   GIFtS: 67
GCID: GC04M017488

Quinoid Dihydropteridine Reductase

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Quinoid Dihydropteridine Reductase1 2 3     Short Chain Dehydrogenase/Reductase Family 33C1
DHPR2 3 5     6,7-Dihydropteridine Reductase2
HDHPR2 3     PKU22
EC 1.5.1.343 8     SDR33C12
61     Dihydropteridine Reductase2
7-Dihydropteridine Reductase1     Short Chain Dehydrogenase/Reductase Family 33C, Member 12
Member 11     

External Ids:    HGNC: 97521   Entrez Gene: 58602   Ensembl: ENSG000001515527   OMIM: 6126765   UniProtKB: P094173   

Export aliases for QDPR gene to outside databases

Previous GC identifers: GC04M017302 GC04M017430 GC04M017176 GC04M017238 GC04M017164 GC04M017097 GC04M016842


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for QDPR Gene:
This gene encodes the enzyme dihydropteridine reductase, which catalyzes the NADH-mediated reduction of quinonoid
dihydrobiopterin. This enzyme is an essential component of the pterin-dependent aromatic amino acid hydroxylating
systems. Mutations in this gene resulting in QDPR deficiency include aberrant splicing, amino acid substitutions,
insertions, or premature terminations. Dihydropteridine reductase deficiency presents as atypical phenylketonuria
due to insufficient production of biopterin, a cofactor for phenylalanine hydroxylase. (provided by RefSeq, Jul
2008)

GeneCards Summary for QDPR Gene: 
QDPR (quinoid dihydropteridine reductase) is a protein-coding gene. Diseases associated with QDPR include dihydropteridine reductase deficiency, and bh4-deficient hyperphenylalaninemia c, and among its related super-pathways are Metabolic pathways and tyrosine degradation I. GO annotations related to this gene include protein homodimerization activity and NADPH binding.

UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417
Function: The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine,
tyrosine, and tryptophan hydroxylases

Gene Wiki entry for QDPR 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NT_006316.16  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the QDPR gene promoter:
         RFX1   NF-1   NF-1/L   AML1a   FOXD3   CREB   Ik-2   deltaCREB   c-Myb   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidQDPR promoter sequence
   Search SABiosciences Chromatin IP Primers for QDPR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat QDPR


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

Entrez Gene cytogenetic band: 4p15.31   Ensembl cytogenetic band:  4p15.32   HGNC cytogenetic band: 4p15.31

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

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M017488:  view genomic region     (about GC identifiers)

Start:
17,461,884 bp from pter      End:
17,513,857 bp from pter
Size:
51,974 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417 (See protein sequence)
Recommended Name: Dihydropteridine reductase  
Size: 244 amino acids; 25790 Da
Subunit: Homodimer
1 PDB 3D structure from and Proteopedia for QDPR:
1HDR (3D)    
Secondary accessions: A8K158 Q53F52 Q9H3M5

Explore the universe of human proteins at neXtProt for QDPR: NX_P09417

Explore proteomics data for QDPR at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P09417

  • 4/7 DME Specific Peptides for QDPR (P09417) (see all 7)
     LPVTLDTP  SGSLIQVVTT  AVHQLCQSLAGK  AALDGTPGMIGYGMAK 

    QDPR Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    QDPR Protein Expression
    REFSEQ proteins: NP_000311.2  
    ENSEMBL proteins: 
     ENSP00000422759   ENSP00000423227   ENSP00000281243   ENSP00000390944   ENSP00000426377  
     ENSP00000426039   ENSP00000420873  
    Reactome Protein details: P09417
    Human Recombinant Protein Products for QDPR: 
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for QDPR
    Cloud-Clone Corp. Proteins for QDPR 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0043005neuron projection IEA--

    QDPR for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    SDRA: Short chain dehydrogenase/reductase superfamily / Atypical members

    3 InterPro protein domains:
     IPR020904 Sc_DH/Rdtase_CS
     IPR002198 DH_sc/Rdtase_SDR
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry P09417

    ProtoNet protein and cluster: P09417

    1 Blocks protein domain: IPB002198 Short-chain dehydrogenase/reductase SDR

    UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417
    Similarity: Belongs to the short-chain dehydrogenases/reductases (SDR) family


    QDPR for domains           About GeneDecksing


    (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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHPR_HUMAN, P09417
    Function: The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine,
    tyrosine, and tryptophan hydroxylases
    Catalytic activity: A 5,6,7,8-tetrahydropteridine + NAD(P)(+) = a 6,7-dihydropteridine + NAD(P)H

         Genatlas biochemistry entry for QDPR:
    quininoid dihydropteridine reductase,tetrahydrobiopterin (BH4) cycle,phenylalanine hydroxylation system

         Enzyme Number (IUBMB): EC 1.5.1.341 2

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:00041556,7-dihydropteridine reductase activity EXP--
    GO:0009055electron carrier activity TAS3033643
    GO:0016491oxidoreductase activity ----
    GO:0042803protein homodimerization activity IEA--
    GO:0070402NADPH binding IEA--
         
    QDPR for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Qdpr):
     skeleton 

    QDPR for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Qdprtm1Jcs for QDPR

       inGenious Targeting Laboratory - Custom generated mouse model solutions for QDPR 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for QDPR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for QDPR 
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    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate QDPR:
    hsa-miR-3910 hsa-miR-34b* hsa-miR-124 hsa-miR-506 hsa-miR-3714 hsa-miR-449c
    SwitchGear 3'UTR luciferase reporter plasmidQDPR 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for QDPR About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    2tyrosine degradation I
    Phenylalanine and tyrosine catabolism0.56
    3CREB Pathway
    Intracellular Calcium Signaling0.50
    4tyrosine biosynthesis IV
    phenylalanine degradation I (aerobic)0.33
    5Metabolism of amino acids and derivatives
    Metabolism of amino acids and derivatives

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for QDPR
        Intracellular Calcium Signaling

    1 BioSystems Pathway for QDPR
        phenylalanine degradation I (aerobic)

    3        Reactome Pathways for QDPR
        Phenylalanine and tyrosine catabolism
    Metabolism
    Metabolism of amino acids and derivatives


    2         Kegg Pathways  (Kegg details for QDPR):
        Folate biosynthesis
    Metabolic pathways


    QDPR for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for QDPR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/8 Interacting proteins for QDPR (P094173 ENSP000002812434) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDHBP111773, ENSP000003072414I2D: score=5 STRING: ENSP00000307241
    PAHP004393, ENSP000003035004I2D: score=1 STRING: ENSP00000303500
    APOA1P026473, ENSP000002368504I2D: score=1 STRING: ENSP00000236850
    GRB2P629933I2D: score=2 
    PCBD1ENSP000002992994STRING: ENSP00000299299
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001889liver development IEA--
    GO:0006520cellular amino acid metabolic process TAS3033643
    GO:0006559L-phenylalanine catabolic process TAS--
    GO:0006729tetrahydrobiopterin biosynthetic process IEA--
    GO:0008152metabolic process ----

    QDPR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    QDPR for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for QDPR (DHPR)

    9 HMDB Compounds for QDPR    About this table
    CompoundSynonyms CAS #PubMed Ids
    Dihydrobiopterin(S-(R*,S*))-2-amino-6-(1,2-dihydroxypropyl)-7,8-dihydro-4(1H)-Pteridinone (see all 15)6779-87-9--
    Dihydropteridine6,7-dihydropteridine ----
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    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--
    Sapropterin(6R)-5,6,7,8-Tetrahydro-L-biopterin (see all 11)62989-33-7--
    Tetrahydrobiopterin(1R,2S)-(2-Amino-3,4,5,6,7,8-hexahydro-4-oxo-6-pteridinyl)-1,2-propandiol (see all 11)17528-72-2--
    Tetrahydropteridine5,6,7,8-Tetrahydropteridine (see all 4)10593-78-9--

    3 DrugBank Compounds for QDPR    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    NADHbeta-DPNH (see all 18)606-68-8target--3086306 6820434 10814540 17139284 17016423
    Nicotinamide-Adenine-Dinucleotide-- 53-84-9target--17139284 17016423 10592235
    2-(N-Morpholino)-Ethanesulfonic Acid-- --target--10592235

    10/47 Novoseek inferred chemical compound relationships for QDPR gene (see all 47)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dihydropteridine 99.3 221 12956422 (4), 2116088 (4), 1861459 (4), 9796752 (3) (see all 99)
    6-pyruvoyltetrahydropterin 94.9 23 16917893 (2), 1754298 (1), 11694255 (1), 12003346 (1) (see all 14)
    dihydropyridine 93.3 78 8755610 (1), 9395065 (1), 10760701 (1), 13679303 (1) (see all 69)
    tetrahydrobiopterin 92.6 47 1956581 (2), 1283784 (2), 8554621 (2), 8433887 (2) (see all 27)
    7-biopterin 88.8 2 7923811 (1)
    ryanodine 88.2 51 11412150 (2), 15505226 (2), 19802526 (2), 8755610 (1) (see all 41)
    pterin 86.7 28 19534905 (3), 12956422 (2), 1754298 (1), 1289568 (1) (see all 14)
    sepiapterin 83.7 17 16917893 (2), 12003346 (1), 17188538 (1), 2039522 (1) (see all 8)
    dihydrobiopterin 78.8 5 1956581 (1), 7609464 (1), 11153907 (1)
    pteridine 78 7 1886401 (1), 10484807 (1), 16116247 (1), 2039522 (1) (see all 7)

    Search CenterWatch for drugs/clinical trials and news about QDPR / DHPR

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for QDPR gene: 
    NM_000320.2  

    Unigene Cluster for QDPR:

    Quinoid dihydropteridine reductase
    Hs.75438  [show with all ESTs]
    Unigene Representative Sequence: AK124952
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000513615(uc021xmo.1) ENST00000507439 ENST00000281243(uc003gpd.3 uc003gpe.3)
    ENST00000428702 ENST00000501943 ENST00000508623 ENST00000514300 ENST00000505710
    ENST00000511609

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    Additional mRNA sequence: 

    AK124382.1 AK124952.1 AK223437.1 AK289773.1 AK296622.1 BC000576.2 BC036878.1 M16447.1 
    X04882.1 

    24/28 DOTS entries (see all 28):

    DT.316605  DT.40250555  DT.100824314  DT.100824324  DT.86854894  DT.92449037  DT.92449039  DT.121240196 
    DT.95250989  DT.100824315  DT.95236053  DT.100824306  DT.100824310  DT.121240152  DT.99968607  DT.121240128 
    DT.100824320  DT.100824323  DT.121240155  DT.95185917  DT.95185953  DT.121240121  DT.121240147  DT.95185918 

    24/451 AceView cDNA sequences (see all 451):

    CR595211 CR614918 AI144281 BU727827 BE312903 AA488323 AI081537 CN482071 
    AI084769 BF971916 BM806462 BQ267353 BI027997 BE261182 BF971542 AK124382 
    AW104747 BE046197 CR622555 BQ654156 BU075851 BU196156 CR624599 AI914529 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for QDPR (see all 13)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b · 9c · 9d · 9e · 9f · 9g
    SP1:                          -                             -                 -                       -                                                   
    SP2:                                                        -                 -                       -                                                   
    SP3:                                                        -                 -     -                                                                     
    SP4:                          -                             -                 -     -                 -                                                   
    SP5:                          -     -     -                 -                 -                       -                                                   


    ECgene alternative splicing isoforms for QDPR

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    QDPR expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             Caudate nucleus   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Horizontal Cells Inner Nuclear Layer
             Retina
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Nose (Sensory Organs)
             sensory organ/nose/nasal cavity   

    See QDPR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for QDPR

    SOURCE GeneReport for Unigene cluster: Hs.75438
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for QDPR gene from 7/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Qdpr1 , 5 quinoid dihydropteridine reductase1, 5 88.61(n)1
    94.17(a)1
      5 (24.90 cM)5
    1103911  NM_024236.21  NP_077198.11 
     454340325 
    chicken
    (Gallus gallus)
    Aves QDPR1 quinoid dihydropteridine reductase 75.85(n)
    82.63(a)
      426335  NM_001006566.1  NP_001006566.1 
    lizard
    (Anolis carolinensis)
    Reptilia QDPR6
    Uncharacterized protein
    77(a)
    1 ↔ 1
    4(125354323-125370845)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.167042 Xenopus laevis transcribed sequence with weak similarity more 72.52(n)    CF549111.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.195252 Transcribed sequence with weak similarity to protein more 74.22(n)    AL913568.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Dhpr1 , 3 dihydropteridine reductase3
    Dihydropteridine reductase1
    58(a)3
    61.35(n)1
    59.48(a)1
      3 66F63
    390501  NM_001014579.11  NP_001014579.11 
    worm
    (Caenorhabditis elegans)
    Secernentea T03F6.13
    qdpr-11
    Alcohol/other dehydrogenases, short
    chain type3
    Protein QDPR-11
    51(a)3
    50.87(n)1
    51.3(a)1
      III(13465176-13466156)3
    1767621  NM_067359.51  NP_499760.11 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/637 SNPs in QDPR are shown (see all 637)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0217694
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0217692 Q R mis40--------
    VAR_0081224
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0081222 G V mis40--------
    VAR_0069604
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069602 G D mis40--------
    VAR_0069694
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069692 G S mis40--------
    VAR_0217704
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0217702 G R mis40--------
    VAR_0069654
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069652 P L mis40--------
    VAR_0069704
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069702 F C mis40--------
    VAR_0081214
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0081212 L P mis40--------
    VAR_0069684
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069682 H Y mis40--------
    VAR_0069664
    Hyperphenylalaninemia, BH4-deficient, C (HPABH4C)4--see VAR_0069662 Y C mis40--------

    HapMap Linkage Disequilibrium report for QDPR (17461884 - 17513857 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for QDPR: --

    Human Gene Mutation Database (HGMD): QDPR

    Locus Specific Mutation Databases (LSDB): QDPR
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612676   
    OMIM disorders: 261630  
    UniProtKB/Swiss-Prot: DHPR_HUMAN, P09417
  • Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]: Rare autosomal recessive disorder
    characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including
    axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to
    depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and
    tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet.
    HPABH4C is lethal if untreated. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 20/42 diseases for QDPR (see all 42):    About MalaCards
    dihydropteridine reductase deficiency    bh4-deficient hyperphenylalaninemia c    tetrahydrobiopterin deficiency    phenylketonuria
    cerebral folate deficiency    hypokalemic periodic paralysis type 2    keratomalacia    adrenal neuroblastoma
    hypertonia    gtp cyclohydrolase i deficiency    mild hyperphenylalaninemia    hyperphenylalaninemia
    dopa-responsive dystonia    hypokalemic periodic paralysis    paralysis    malignant hyperthermia
    mutism    vitiligo    tyrosinemia    neurologic diseases

    3 diseases from the University of Copenhagen DISEASES database for QDPR:
    Phenylketonuria     Malignant hyperthermia     Keratomalacia

    QDPR for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/18 Novoseek inferred disease relationships for QDPR gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hyperphenylalaninemia 95 22 10384371 (1), 12003346 (1), 14705166 (1), 9075022 (1) (see all 17)
    gtp cyclohydrolase i deficiency 85.6 2 16275037 (1), 8830181 (1)
    phenylketonuria atypical 84.3 2 7760062 (1), 12637773 (1)
    phenylketonuria classical 80.6 6 8819618 (1), 16767663 (1), 8222274 (1), 8404969 (1)
    phenylketonurias 79.4 9 1754298 (1), 1289568 (1), 8819618 (1), 1745643 (1) (see all 8)
    enzyme deficiency 52.7 1 12003346 (1)
    hypokalemic periodic paralysis 46.7 2 10944223 (1), 15336973 (1)
    mental retardation 38.4 2 19099731 (1)
    myopathy 30.6 2 9199776 (1), 15336973 (1)
    vitiligo 16.5 2 15009710 (2)

    Genatlas disease: QDPR
    hyperphenylalaninemia,malignant phenylketonuria with neurologic deterioration

    Genetic Association Database (GAD): QDPR
    Human Genome Epidemiology (HuGE) Navigator: QDPR (7 documents)

    Export disorders for QDPR 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

    PubMed articles for QDPR gene, integrated from 9 sources (see all 270):
    (articles sorted by number of sources associating them with QDPR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular analysis of 16 Turkish families with DHPR deficiency using denaturing gradient gel electrophoresis (DGGE). (PubMed id 11153907)1, 2, 9 Romstad A.... Guettler F. (2000)
    2. Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations. (PubMed id 9744478)1, 2, 9 Dianzani I.... Cotton R.G.H. (1998)
    3. A series of mutations in the dihydropteridine reductase gene resulting in either abnormal RNA splicing or DHPR protein defects. (PubMed id 10408783)1, 2, 9 Smooker P.M....Dianzani I. (1999)
    4. Molecular basis of dihydropteridine reductase deficiency. (PubMed id 7627180)1, 2, 9 Smooker P.M. and Cotton R.G.H. (1995)
    5. Insertion of an extra codon for threonine is a cause of dihydropteridine reductase deficiency. (PubMed id 2116088)1, 2, 9 Howells D.W.... Cotton R.G.H. (1990)
    6. Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. (PubMed id 8326489)1, 2, 9 Dianzani I....Cotton R.G.H. (1993)
    7. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. (PubMed id 19491146)1, 4, 9 Clot F....Brice A. (2009)
    8. The crystallographic structure of a human dihydropteridine reductase NADH binary complex expressed in Escherichia coli by a cDNA constructed from its rat homologue. (PubMed id 8262916)1, 2, 9 Su Y....Whiteley J.M. (1993)
    9. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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
    Entrez Gene: 5860 HGNC: 9752 AceView: QDPR Ensembl:ENSG00000151552 euGenes: HUgn5860
    ECgene: QDPR Kegg: 5860 H-InvDB: QDPR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for QDPR Pharmacogenomics, SNPs, Pathways
    BIOMDBhttp://www.bh4.org/biodef1.html
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/QDPR

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

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



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