QDPR (quinoid dihydropteridine reductase)

2014-11-01  

Identity

HGNC
LOCATION
4p15.32
LOCUSID
ALIAS
DHPR,HDHPR,PKU2,SDR33C1
FUSION GENES

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

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

References

Pubmed IDYearTitleCitations
373822152024Comprehensive bioinformatics analysis of structural and functional consequences of deleterious missense mutations in the human QDPR gene.1
386425522024QDPR deficiency drives immune suppression in pancreatic cancer.0
373822152024Comprehensive bioinformatics analysis of structural and functional consequences of deleterious missense mutations in the human QDPR gene.1
386425522024QDPR deficiency drives immune suppression in pancreatic cancer.0
293556312018Expression and Purification of Quinine Dihydro Pteridine Reductase from astrocytes and its significance in the astrocyte pathology.2
293556312018Expression and Purification of Quinine Dihydro Pteridine Reductase from astrocytes and its significance in the astrocyte pathology.2
286333362017A278C mutation of dihydropteridine reductase decreases autophagy via mTOR signaling.7
286333362017A278C mutation of dihydropteridine reductase decreases autophagy via mTOR signaling.7
276131142016Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.6
276131142016Genetic causes of Parkinson's disease in the Maltese: a study of selected mutations in LRRK2, MTHFR, QDPR and SPR.6
251249722014QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.3
251249722014QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.3
212398862011The elusive role of the SPRY2 domain in RyR1.6
220209362011Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.52
212398862011The elusive role of the SPRY2 domain in RyR1.6

Citation

Dessen P

QDPR (quinoid dihydropteridine reductase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72438/qdpr-(quinoid-dihydropteridine-reductase)