Property Summary

NCBI Gene PubMed Count 13
Grant Count 5
R01 Count 4
Funding $1,277,738
PubMed Score 7.12
PubTator Score 6.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -2.281 0.000
group 3 medulloblastoma 4.100 0.000
pituitary cancer 1.400 0.030

Gene RIF (3)

PMID Text
22901948 These findings add PDE6H to the set of genes involved in autosomal-recessive cone disorders and demonstrate the importance of the inhibitory gamma subunit in cone phototransduction
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
15629837 Our results indicate that mutations in the PDE6H gene are not common, because only 1 of 240 patients with cone dystrophy showed a single nucleotide substitution in the 5' UTR of PDE6H mRNA

AA Sequence

MSDNTTLPAPASNQGPTTPRKGPPKFKQRQTRQFKSKPPKKGVKGFGDDIPGMEGLGTDITVICPWEAFS      1 - 70
HLELHELAQFGII                                                              71 - 83
//

Text Mined References (12)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
22901948 2012 A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
17286855 2007 Mapping of transcription start sites of human retina expressed genes.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
15629837 2005 A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12372317 2002 Three-dimensional structure of non-activated cGMP phosphodiesterase 6 and comparison of its image with those of activated forms.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
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