Property Summary

NCBI Gene PubMed Count 52
Grant Count 139
R01 Count 78
Funding $14,048,773.41
PubMed Score 265.54
PubTator Score 170.17

Knowledge Summary

Patent

No data available

Synonym

Accession O43186 Q0QD45
Symbols CRD
LCA7
OTX3
CORD2

Gene

CRX

Gene RIF (29)

PMID Text
26608863 data demonstrate the successful application of ZFN technology to generate CRX-GFP labeled hESC lines, which can be used to study and isolate photoreceptor precursors during hESC differentiation.
26397460 Loss of OTX2 expression resulted in decreased expression of C-MYC and CRX, genes previously implicated in retinoblastoma tumorigenesis. Loss of OTX2 expression increased the phosphorylation of RB, a potential mechanism of modulating cell proliferation
25928893 Con rod homeobox protein mRNA is a novel marker for retinoblastoma at extraocular sites.
25270190 Mutations in CRX demonstrate significant phenotypic heterogeneity both between and within pedigrees. A novel, adult-onset, macular dystrophy phenotype is characterized, further extending our knowledge of the etiology of dominant macular dystrophies.
24555912 CRX could be useful in surgical neuropathology for the differential diagnosis of pineal region tumors, in particular to discriminate pineal tumors from glial tumors
24093488 Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for leber congenital amaurosis.
24001014 Two de novo mutations in CRX were found in Chinese patients with Leber congenital amaurosis. The CRX mutation might create a dominantly inherited trait.
23565263 Data have identified a novel retinal SAM domain protein, Samd7, which could act as a transcriptional repressor involved in fine-tuning of Crx-regulated gene expression.
23235340 the potential utility of CRX as a marker of pineal lineage in routine diagnostic neuropathology.
22960069 In this study, three variations were detected in 3 of 130 families with CORD, including two novel mutations, c.239A>G (p.Glu80Gly) and c.362C>T (p.Ala121Val)
More...

AA Sequence

MMAYMNPGPHYSVNALALSGPSVDLMHQAVPYPSAPRKQRRERTTFTRSQLEELEALFAKTQYPDVYARE      1 - 70
EVALKINLPESRVQVWFKNRRAKCRQQRQQQKQQQQPPGGQAKARPAKRKAGTSPRPSTDVCPDPLGISD     71 - 140
SYSPPLPGPSGSPTTAVATVSIWSPASESPLPEAQRAGLVASGPSLTSAPYAMTYAPASAFCSSPSAYGS    141 - 210
PSSYFSGLDPYLSPMVPQLGGPALSPLSGPSVGPSLAQSPTSLSGQSYGAYSPVDSLEFKDPTGTWKFTY    211 - 280
NPMDPLDYKDQSAWKFQIL                                                       281 - 299
//

Text Mined References (56)

PMID Year Title
26608863 2016 Using Zinc Finger Nuclease Technology to Generate CRX-Reporter Human Embryonic Stem Cells as a Tool to Identify and Study the Emergence of Photoreceptors Precursors During Pluripotent Stem Cell Differentiation.
26397460 2015 OTX2 is a therapeutic target for retinoblastoma and may function as a common factor between C-MYC, CRX, and phosphorylated RB pathways.
25928893 2015 Association of Cone-Rod Homeobox Transcription Factor Messenger RNA With Pediatric Metastatic Retinoblastoma.
25416956 2014 A proteome-scale map of the human interactome network.
25270190 2014 The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.
24555912 Is CRX protein a useful marker in differential diagnosis of tumors of the pineal region?
24093488 2015 Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son.
24001014 2015 De novo mutations in the cone-rod homeobox gene associated with leber congenital amaurosis in Chinese patients.
23565263 2013 Sterile alpha motif containing 7 (samd7) is a novel crx-regulated transcriptional repressor in the retina.
23235340 2013 CRX/OTX3: a useful marker in the differential diagnosis of tumors of the pineal region and indicator of photoreceptor differentiation in medulloblastomas and atypical teratoid rhabdoid tumors.
More...