Property Summary

NCBI Gene PubMed Count 31
Grant Count 15
R01 Count 9
Funding $1,344,032.33
PubMed Score 170.92
PubTator Score 83.22

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
malignant mesothelioma 4.100 0.000
Atopic dermatitis -1.100 0.030
tuberculosis -1.700 0.000
ovarian cancer 1.200 0.000
psoriasis -1.500 0.000

Gene RIF (10)

PMID Text
25809918 Analysis of KRT86 revealed a novel mutation, c.1231G>T;p.Glu411*, in exon 7 in the three affected children and their mother with monilethrix.
25557232 Novel mutations causing monilethrix are reported in KRT81, KRT83, and KRT86.
23981620 The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix.
23383108 A synthetic peptide corresponding to the immunosuppressive domain (amino acids 574-592) of HIV-1 gp41 upregulates the expression of keratin 86 (KRT86; KRTHB6) in peptide-treated PBMCs
22670615 Results idntify a novel mutation of krt86 protein causing monilethrix located in a region other than the helix.
22568869 Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.
19505862 Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.
18393232 The results emphasized the key role of hair keratin hHB6 in the pathogenesis of monilethrix and indicated that the common mutation of hHB6 was also a cause of monilethrix in Chinese.
15797458 The KRTHB6 expression uniformly occurred in the midcortex region.
15183744 Observational study of genotype prevalence. (HuGE Navigator)

AA Sequence

MTCGSYCGGRAFSCISACGPRPGRCCITAAPYRGISCYRGLTGGFGSHSVCGGFRAGSCGRSFGYRSGGV      1 - 70
CGPSPPCITTVSVNESLLTPLNLEIDPNAQCVKQEEKEQIKSLNSRFAAFIDKVRFLEQQNKLLETKLQF     71 - 140
YQNRECCQSNLEPLFEGYIETLRREAECVEADSGRLASELNHVQEVLEGYKKKYEEEVSLRATAENEFVA    141 - 210
LKKDVDCAYLRKSDLEANVEALIQEIDFLRRLYEEEIRVLQSHISDTSVVVKLDNSRDLNMDCIIAEIKA    211 - 280
QYDDIVTRSRAEAESWYRSKCEEMKATVIRHGETLRRTKEEINELNRMIQRLTAEVENAKCQNSKLEAAV    281 - 350
AQSEQQGEAALSDARCKLAELEGALQKAKQDMACLIREYQEVMNSKLGLDIEIATYRRLLEGEEQRLCEG    351 - 420
VGSVNVCVSSSRGGVVCGDLCASTTAPVVSTRVSSVPSNSNVVVGTTNACAPSARVGVCGGSCKRC        421 - 486
//

Text Mined References (31)

PMID Year Title
25809918 2015 A novel KRT86 mutation in a Turkish family with monilethrix, and identification of maternal mosaicism.
25557232 2015 Novel KRT83 and KRT86 mutations associated with monilethrix.
25416956 2014 A proteome-scale map of the human interactome network.
24535457 2014 A genome-wide association meta-analysis of plasma A? peptides concentrations in the elderly.
23981620 2013 Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.
23580065 2013 Shotgun proteomics reveals specific modulated protein patterns in tears of patients with primary open angle glaucoma naïve to therapy.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22670615 2012 A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance.
22568869 2012 Congenital monilethrix and hereditary unilateral external auditory canal atresia are co-inherited in a Chinese pedigree with recurrent KRT86 mutation.
19505862 Mutation E402K of the hHb6 in a Chinese Han family with monilethrix.
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