Property Summary

NCBI Gene PubMed Count 21
Grant Count 39
R01 Count 38
Funding $4,514,295.63
PubMed Score 104.67
PubTator Score 46.27

Knowledge Summary

Patent

No data available

Expression

Gene RIF (2)

PMID Text
20801516 Observational study of genetic testing. (HuGE Navigator)
20335603 Families showing a variable macular dystrophy phenotype caused by mutations in PRPH2 should be tested for additional mutations in ABCA4 and ROM1, as they may alter the progression of the PRPH2 phenotype.

AA Sequence

MAPVLPLVLPLQPRIRLAQGLWLLSWLLALAGGVILLCSGHLLVQLRHLGTFLAPSCQFPVLPQAALAAG      1 - 70
AVALGTGLVGVGASRASLNAALYPPWRGVLGPLLVAGTAGGGGLLVVGLGLALALPGSLDEALEEGLVTA     71 - 140
LAHYKDTEVPGHCQAKRLVDELQLRYHCCGRHGYKDWFGVQWVSSRYLDPGDRDVADRIQSNVEGLYLTD    141 - 210
GVPFSCCNPHSPRPCLQNRLSDSYAHPLFDPRQPNQNLWAQGCHEVLLEHLQDLAGTLGSMLAVTFLLQA    211 - 280
LVLLGLRYLQTALEGLGGVIDAGGETQGYLFPSGLKDMLKTAWLQGGVACRPAPEEAPPGEAPPKEDLSE    281 - 350
A//

Text Mined References (21)

PMID Year Title
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20335603 2010 ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
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.
16554811 2006 Human chromosome 11 DNA sequence and analysis including novel gene identification.
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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11641407 2001 The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes.
11559856 2001 Update on the molecular genetics of retinitis pigmentosa.
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