Property Summary

NCBI Gene PubMed Count 43
Grant Count 115
R01 Count 65
Funding $25,354,177.56
PubMed Score 490.81
PubTator Score 145.94

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
fibroadenoma 1.100 0.027
posterior fossa group B ependymoma 1.100 0.000
inflammatory breast cancer -1.300 0.002

Synonym

Accession P35913 B7Z9T9 E7ETT3 Q53XN5 Q9BWH5 Q9UD49 GMP-PDE beta
Symbols rd1
PDEB
RP40
CSNB3
CSNBAD2

Gene

PANTHER Protein Class (2)

Gene RIF (17)

PMID Text
25827439 Heterozygous mutation in the PDE6B gene can cause a reduction in the rod function to different degrees.
24828262 Next-generation whole exome sequencing revealed a homozygous c.1923_1969ins6del47 nonsense PDE6B mutation, which has not been previously described, that segregated with the disease in the family.
23882135 The family was found to segregate novel mutations of two different genes: myosin VIIA (MYO7A), and phosphodiesterase 6B, which causes nonsyndromic retinitis pigmentosa.
23049240 The p.H557Y mutation in PDE6B, was homozygous in four patients and heterozygous in nine patients, and it was the most frequent mutation (2.5%) in Korean patients with retinitis pigmentosa.
23033484 analysis of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 and PDE6
21792086 Data indicate the upregulation of RREB1, PDE6B, and CD209 suggests that these proteins might play important roles in the differentiation of primitive gut tube cells from embryonic stem cells (hESCs) and in primitive gut tube development into pancreas.
21655355 Mutations have been identified in the beta-subunit of rod phosphodiesterase in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.
20940301 Rod phosphodiesterase-6 PDE6A and PDE6B subunits are enzymatically equivalent.
20801516 Observational study of genetic testing. (HuGE Navigator)
20591486 Observational study of genetic testing. (HuGE Navigator)
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AA Sequence

MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESI      1 - 70
NMERVVFKVLRRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVG     71 - 140
HVAQTKKMVNVEDVAECPHFSSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFL    141 - 210
KYLNFATLYLKIYHLSYLHNCETRRGQVLLWSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDM    211 - 280
TKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAE    281 - 350
SGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMES    351 - 420
LTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILK    421 - 490
EELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWR    491 - 560
HGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHL    561 - 630
EFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLS    631 - 700
LETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKL    701 - 770
QVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADEYEAKVKALEEKEEEERVAAKKVGTEIC    771 - 840
NGGPAPKSSTCCIL                                                            841 - 854
//

Text Mined References (45)

PMID Year Title
25827439 2015 Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations.
24828262 2014 Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.
23882135 2013 Genetic heterogeneity and consanguinity lead to a "double hit": homozygous mutations of MYO7A and PDE6B in a patient with retinitis pigmentosa.
23049240 2012 Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.
23033484 2012 Identification of amino acid residues responsible for the selectivity of tadalafil binding to two closely related phosphodiesterases, PDE5 and PDE6.
22334370 2012 Next-generation genetic testing for retinitis pigmentosa.
21792086 2012 Proteomic identification of RREB1, PDE6B, and CD209 up-regulated in primitive gut tube differentiated from human embryonic stem cells.
21655355 2011 Mutations in the ?-subunit of rod phosphodiesterase identified in consanguineous Pakistani families with autosomal recessive retinitis pigmentosa.
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.
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