Property Summary

NCBI Gene PubMed Count 11
Grant Count 17
R01 Count 13
Funding $1,833,007.66
PubMed Score 85.25
PubTator Score 44.16

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
medulloblastoma, large-cell 3.300 0.000
group 3 medulloblastoma 3.000 0.000
pituitary cancer 1.700 0.003

Gene RIF (5)

PMID Text
23308101 This study reports the results of an international study aimed at delineating the clinical and molecular spectrum of RD3 mutations in retinal dystrophies.
22531706 Mutations in RD3 are a very rare cause of Leber's congenital amaurosis (LCA) associated with an extremely severe form of retinal dystrophy.
21928830 RD3 suppresses the basal catalytic activity of guanylyl cyclase activating proteins (GCAP) in a noncompetitive manner.
17186464 the retinopathy-associated RD3 protein is part of subnuclear protein complexes involved in diverse processes, such as transcription and splicing.
12914764 Identification and sequence analysis of C1orf36.

AA Sequence

MSLISWLRWNEAPSRLSTRSPAEMVLETLMMELTGQMREAERQQRERSNAVRKVCTGVDYSWLASTPRST      1 - 70
YDLSPIERLQLEDVCVKIHPSYCGPAILRFRQLLAEQEPEVQEVSQLFRSVLQEVLERMKQEEEAHKLTR     71 - 140
QWSLRPRGSLATFKTRARISPFASDIRTISEDVERDTPPPLRSWSMPEFRAPKAD                   141 - 195
//

Text Mined References (11)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
23393555 2013 Genome-wide association study of retinopathy in individuals without diabetes.
23308101 2013 Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.
22531706 2012 Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.
21928830 2011 Retinal degeneration 3 (RD3) protein inhibits catalytic activity of retinal membrane guanylyl cyclase (RetGC) and its stimulation by activating proteins.
18936139 2009 Mutation survey of known LCA genes and loci in the Saudi Arabian population.
17186464 2006 Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12914764 2003 Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa.
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