Property Summary

NCBI Gene PubMed Count 27
Grant Count 20
R01 Count 20
Funding $2,460,757.74
PubMed Score 19.48
PubTator Score 93.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
active Crohn's disease -2.120 0.016
active ulcerative colitis -2.428 0.005
lung adenocarcinoma -1.300 0.000
psoriasis -3.100 0.000

Gene RIF (12)

PMID Text
26321862 report two splice acceptor site variations in PDE6A in consanguineous Pakistani families who manifested cardinal symptoms of autosomal recessive retinitis pigmentosa
23033484 analysis of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 and PDE6
21039428 the p.Val685Met mutation in PDE6A causes retinal degeneration in humans
20940301 Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
20801516 Observational study of genetic testing. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20591486 Observational study of genetic testing. (HuGE Navigator)
20110084 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
18723146 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MGEVTAEEVEKFLDSNIGFAKQYYNLHYRAKLISDLLGAKEAAVDFSNYHSPSSMEESEIIFDLLRDFQE      1 - 70
NLQTEKCIFNVMKKLCFLLQADRMSLFMYRTRNGIAELATRLFNVHKDAVLEDCLVMPDQEIVFPLDMGI     71 - 140
VGHVAHSKKIANVPNTEEDEHFCDFVDILTEYKTKNILASPIMNGKDVVAIIMAVNKVDGSHFTKRDEEI    141 - 210
LLKYLNFANLIMKVYHLSYLHNCETRRGQILLWSGSKVFEELTDIERQFHKALYTVRAFLNCDRYSVGLL    211 - 280
DMTKQKEFFDVWPVLMGEVPPYSGPRTPDGREINFYKVIDYILHGKEDIKVIPNPPPDHWALVSGLPAYV    281 - 350
AQNGLICNIMNAPAEDFFAFQKEPLDESGWMIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEMDETLM    351 - 420
ESLTQFLGWSVLNPDTYESMNKLENRKDIFQDIVKYHVKCDNEEIQKILKTREVYGKEPWECEEEELAEI    421 - 490
LQAELPDADKYEINKFHFSDLPLTELELVKCGIQMYYELKVVDKFHIPQEALVRFMYSLSKGYRKITYHN    491 - 560
WRHGFNVGQTMFSLLVTGKLKRYFTDLEALAMVTAAFCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERH    561 - 630
HLEFGKTLLRDESLNIFQNLNRRQHEHAIHMMDIAIIATDLALYFKKRTMFQKIVDQSKTYESEQEWTQY    631 - 700
MMLEQTRKEIVMAMMMTACDLSAITKPWEVQSQVALLVAAEFWEQGDLERTVLQQNPIPMMDRNKADELP    701 - 770
KLQVGFIDFVCTFVYKEFSRFHEEITPMLDGITNNRKEWKALADEYDAKMKVQEEKKQKQQSAKSAAAGN    771 - 840
QPGGNPSPGGATTSKSCCIQ                                                      841 - 860
//

Text Mined References (27)

PMID Year Title
26321862 2015 Splice-site mutations identified in PDE6A responsible for retinitis pigmentosa in consanguineous Pakistani families.
23033484 2012 Identification of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 and PDE6.
21697133 2011 Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method.
21039428 2010 Identification of a novel mutation in the human PDE6A gene in autosomal recessive retinitis pigmentosa: homology with the nmf28/nmf28 mice model.
20940301 2010 Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20591486 2010 Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa.
20110084 2010 Failure to replicate genetic associations with antidepressant treatment response in duloxetine-treated patients.
19946729 2010 cGMP-phosphodiesterase 6, transducin and Wnt5a/Frizzled-2-signaling control cGMP and Ca(2+) homeostasis in melanoma cells.
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