QDPR (quinoid dihydropteridine reductase)

2014-11-01  

Identity

HGNC
QDPR
LOCATION
4p15.32
LOCUSID
5860
ALIAS
DHPR,HDHPR,PKU2,SDR33C1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5860
MIM: 612676
HGNC: 9752
Ensembl: ENSG00000151552

Variants:

dbSNP: 5860
ClinVar: 5860
TCGA: ENSG00000151552
COSMIC: QDPR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000151552ENST00000281243P09417
ENSG00000151552ENST00000281243A0A140VKA9
ENSG00000151552ENST00000428702P09417
ENSG00000151552ENST00000505710H0Y8F7
ENSG00000151552ENST00000507439B7Z415
ENSG00000151552ENST00000508623D6RGG7
ENSG00000151552ENST00000513615B7Z415
ENSG00000151552ENST00000514300D6RHJ7

Expression (GTEx)

0
50
100
150
200
250
300
350
400
450
500
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Folate biosynthesisKEGGko00790
Folate biosynthesisKEGGhsa00790
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Phenylalanine and tyrosine catabolismREACTOMER-HSA-71182
Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolismREACTOMER-HSA-6788656

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
204710302010Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.42
194059532009Proteome analysis of schizophrenia patients Wernicke's area reveals an energy metabolism dysregulation.38
194911462009Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.35
204680642010Association study of 182 candidate genes in anorexia nervosa.30
220209362011Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.30
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
150097102004Perturbed 6-tetrahydrobiopterin recycling via decreased dihydropteridine reductase in vitiligo: more evidence for H2O2 stress.13
184442522008Neurotransmission and bipolar disorder: a systematic family-based association study.9

Citation

Dessen P

QDPR (quinoid dihydropteridine reductase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72438/qdpr