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Qdpr Gene Detail
Summary
  • Symbol
    Qdpr
  • Name
    quinoid dihydropteridine reductase
  • Synonyms
    2610008L04Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:97836
    NCBI Gene: 110391
  • Gene Overview
    MyGene.info: QDPR
Location & Maps
more
  • Sequence Map
    Chr5:45434021-45450236 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      16216 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 24.90 cM
  • Mapping Data
    21 experiments
Homology
more
  • Human Ortholog
    QDPR, quinoid dihydropteridine reductase
  • Vertebrate Orthologs
    10
  • Human Ortholog
    QDPR, quinoid dihydropteridine reductase
    Orthology source: HomoloGene, HGNC
  • Synonyms
    DHPR, PKU2, SDR33C1
  • Links
    NCBI Gene ID: 5860
    neXtProt AC: NX_P09417

  • Chr Location
    4p15.32; chr4:17486393-17512234 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human QDPR associations

Human Disease Mouse Models
       Hyperphenylalaninemia, Bh4-Deficient, C; HPABH4C   OMIM: 261630
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    5 phenotypes from 1 allele in 1 genetic background
    3 phenotypes from multigenic genotypes
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    11
  • Chemically induced (ENU)
    1
  • Chemically induced (other)
    2
  • Gene trapped
    1
  • Radiation induced
    2
  • Spontaneous
    1
  • Targeted
    4
  • Genomic Mutations
    6 involving Qdpr
  • Incidental Mutations
A portion of mice homozygous for a knock-out allele display abnormal rib-sternum attachment, a split xiphoid process, and lumbar vertebral transformation. Another knock-out allele exhibits abnormal folate and biopterin metabolism and oxidative stress in the liver.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000053872 VEGA Gene Model | MGI Sequence Detail 16216 C57BL/6J ±  kb
transcript OTTMUST00000068743 VEGA | MGI Sequence Detail 1380 Not Applicable  
polypeptide OTTMUSP00000034817 VEGA | MGI Sequence Detail 241 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    138 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 141
    cDNA 138
    Primer pair 2
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-13735, MGI:1196320, MGI:1917283
References
more
  • Summaries
    All 54
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 5
    Phenotypes 23
  • Earliest
    J:8865 MacDonald ME, et al., Physical and genetic localization of quinonoid dihydropteridine reductase gene (QDPR) on short arm of chromosome 4. Somat Cell Mol Genet. 1987 Sep;13(5):569-74
  • Latest
    J:216352 Xu F, et al., Disturbed biopterin and folate metabolism in the Qdpr-deficient mouse. FEBS Lett. 2014 Nov 3;588(21):3924-31

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory