Property Summary

NCBI Gene PubMed Count 10
Grant Count 24
R01 Count 17
Funding $5,580,819.82
PubMed Score 38.58
PubTator Score 9.87

Knowledge Summary

Patent

No data available

Gene RIF (6)

PMID Text
20357198 Linkage and haplotype analyses identified 12q21.33 as a locus for posterior amorphous corneal dystrophy. However, no mutations were identified in the candidate genes (KERA, LUM, DCN, EPYC) within this region.
19844586 OPTC and EPYC are unlikely to play a major role in high myopia.
19844586 Observational study of gene-disease association. (HuGE Navigator)
19616852 Observational study of gene-disease association. (HuGE Navigator)
17558846 In addition, no pathogenic sequence variations were found in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been implicated in corneal and anterior segment dysgenesis.
16902402 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MKTLAGLVLGLVIFDAAVTAPTLESINYDSETYDATLEDLDNLYNYENIPVDKVEIEIATVMPSGNRELL      1 - 70
TPPPQPEKAQEEEEEEESTPRLIDGSSPQEPEFTGVLGPHTNEDFPTCLLCTCISTTVYCDDHELDAIPP     71 - 140
LPKNTAYFYSRFNRIKKINKNDFASLSDLKRIDLTSNLISEIDEDAFRKLPQLRELVLRDNKIRQLPELP    141 - 210
TTLTFIDISNNRLGRKGIKQEAFKDMYDLHHLYLTDNNLDHIPLPLPENLRALHLQNNNILEMHEDTFCN    211 - 280
VKNLTYIRKALEDIRLDGNPINLSKTPQAYMCLPRLPVGSLV                                281 - 322
//

Text Mined References (11)

PMID Year Title
25114248 2014 Distinct isoform of FABP7 revealed by screening for retroelement-activated genes in diffuse large B-cell lymphoma.
20357198 2010 Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.
19844586 2009 An evaluation of OPTC and EPYC as candidate genes for high myopia.
19616852 2009 The association of haplotype at the lumican gene with high myopia susceptibility in Taiwanese patients.
17558846 2007 Autosomal dominant cornea plana is not associated with pathogenic mutations in DCN, DSPG3, FOXC1, KERA, LUM, or PITX2.
16902402 2006 The association of single nucleotide polymorphisms in the 5'-regulatory region of the lumican gene with susceptibility to high myopia in Taiwan.
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.
10330124 1999 Genomic characterization of human DSPG3.
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