Property Summary

NCBI Gene PubMed Count 49
Grant Count 234
R01 Count 151
Funding $31,550,662.92
PubMed Score 197.66
PubTator Score 162.32

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
malignant mesothelioma -2.900 0.000
astrocytic glioma -1.500 0.040
ependymoma -2.200 0.031
glioblastoma multiforme -1.100 0.000
oligodendroglioma -1.200 0.000
group 4 medulloblastoma -1.900 0.000
atypical teratoid/rhabdoid tumor -2.100 0.000
medulloblastoma, large-cell -2.100 0.000
primitive neuroectodermal tumor -1.200 0.000
tuberculosis 1.300 0.000
lung cancer 1.400 0.006
adult high grade glioma -1.400 0.001
subependymal giant cell astrocytoma -2.376 0.004
nasopharyngeal carcinoma 1.100 0.001
lung carcinoma 1.400 0.000
ovarian cancer 1.300 0.007

Synonym

Accession P09417 A8K158 B3KW71 Q53F52 Q9H3M5
Symbols DHPR
PKU2
SDR33C1

Gene

PANTHER Protein Class (2)

PDB

1HDR  

Gene RIF (14)

PMID Text
25124972 The mutation spectrum of the QDPR gene is different in the Chinese population. Most mutations are related to severe phenotype.
22020936 JP1 and JP2 can facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery
21239886 the electrostatic regulatory interaction between the SPRY2 F loop residues (that bind to imperatoxin A) and the ASI/basic residues of RyR1 does not influence bi-directional DHPR-RyR1 signaling during skeletal EC coupling
20877624 Observational study of gene-disease association. (HuGE Navigator)
20471030 This protein has been found differentially expressed in thalami from patients with schizophrenia.
20468064 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19674121 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19491146 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
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AA Sequence

MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAE      1 - 70
VGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAA     71 - 140
LDGTPGMIGYGMAKGAVHQLCQSLAGKNSGMPPGAAAIAVLPVTLDTPMNRKSMPEADFSSWTPLEFLVE    141 - 210
TFHDWITGKNRPSSGSLIQVVTTEGRTELTPAYF                                        211 - 244
//

Text Mined References (56)

PMID Year Title
25124972 2014 QDPR gene mutation and clinical follow-up in Chinese patients with dihydropteridine reductase deficiency.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23533145 2013 In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
22020936 2011 Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.
21269460 2011 Initial characterization of the human central proteome.
21239886 The elusive role of the SPRY2 domain in RyR1.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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