Property Summary

NCBI Gene PubMed Count 28
Grant Count 55
R01 Count 48
Funding $7,452,864.89
PubMed Score 142.75
PubTator Score 44.76

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.300 0.000

 GWAS Trait (1)

Gene RIF (14)

PMID Text
26099342 a novel KERA variant, p.(Ile225Thr), was detected that segregates with Cornea plana in the homozygous form.
25967529 The mutation that we report here leads to the deletion of a conserved amino acid (p.Phe125del) from the third LRR motif of the keratocan protein, which might lead to an abnormal tertiary structure of the protein, thereby leading to the disease.
24879339 rare variant in KERA was identified in a large kindred with premature atherosclerosis
23834557 Corneal endothelial disorders were found with compound mutations in KERA
20360993 Observational study of gene-disease association. (HuGE Navigator)
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.
19834535 Observational study of gene-disease association. (HuGE Navigator)
18620607 Multiple core-protein species were detected for decorin, biglycan, lumican and keratocan in the degenerate osteoarthritic articular cartilage and menisci.
17679937 This is the first description of recessive cornea plana in a white British family and it is the second report on the p.N247S change in the KERA gene.
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.
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AA Sequence

MAGTICFIMWVLFITDTVWSRSVRQVYEVHDSDDWTIHDFECPMECFCPPSFPTALYCENRGLKEIPAIP      1 - 70
SRIWYLYLQNNLIETIPEKPFENATQLRWINLNKNKITNYGIEKGALSQLKKLLFLFLEDNELEEVPSPL     71 - 140
PRSLEQLQLARNKVSRIPQGTFSNLENLTLLDLQNNKLVDNAFQRDTFKGLKNLMQLNMAKNALRNMPPR    141 - 210
LPANTMQLFLDNNSIEGIPENYFNVIPKVAFLRLNHNKLSDEGLPSRGFDVSSILDLQLSHNQLTKVPRI    211 - 280
SAHLQHLHLDHNKIKSVNVSVICPSPSMLPAERDSFSYGPHLRYLRLDGNEIKPPIPMALMTCFRLLQAV    281 - 350
II                                                                        351 - 352
//

Text Mined References (28)

PMID Year Title
26099342 2015 Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function.
25967529 2016 A Novel KERA Mutation in a Case of Autosomal Recessive Cornea Plana With Primary Angle-Closure Glaucoma.
24879339 2014 Mutation in KERA identified by linkage analysis and targeted resequencing in a pedigree with premature atherosclerosis.
24376456 2013 Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9.
23834557 2014 Corneal endothelial findings in a Czech patient with compound heterozygous mutations in KERA.
23284291 2012 Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function.
20360993 2010 Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.
20357198 2010 Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.
19834535 2009 Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging.
18620607 2008 Fragmentation of decorin, biglycan, lumican and keratocan is elevated in degenerate human meniscus, knee and hip articular cartilages compared with age-matched macroscopically normal and control tissues.
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