Property Summary

NCBI Gene PubMed Count 49
Grant Count 8
Funding $267,952.5
PubMed Score 60.15
PubTator Score 28.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
osteosarcoma 1.502 0.002
interstitial cystitis -1.400 0.000
atypical teratoid/rhabdoid tumor -1.100 0.000
posterior fossa group B ependymoma -1.100 0.001
psoriasis 1.400 0.000
subependymal giant cell astrocytoma -1.132 0.008
ulcerative colitis -1.200 0.000
ovarian cancer -1.100 0.000

 GWAS Trait (1)

Gene RIF (33)

PMID Text
24961381 we report the first Korean case of Marie Unna hereditary hypotrichosis with a novel heterozygous missense mutation (c.80C>T) in U2HR that has not been documented to date.
24334705 Findings indicate that hairless (HR) is a H3K9 demethylase that regulates epidermal homeostasis via direct control of its target genes.
24261346 we have identified a mutation, c.74C>T, in a Chinese family with MUHH, which has been previously described in a family from Hungary. Our findings therefore indicate the prevalence of this mutation in diverse populations.
24236410 study reports two cases of Marie Unna hereditary hypotrichosis; a novel nonsense mutation of U2HR was identified in the second case, but no causative mutation in U2HR or EPS8L3 was found in the first case
24190897 Unliganded VDR upregulates the expression of hairless, the gene product of which acts as a downstream comodulator to feedback-repress DKKL1 and SOSTDC1.
24111842 mutation responsible for atrichia with papular lesions in a Pakistani family
23293922 novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis
22355551 data demonstrates an acceleration of HR sequence evolution in human branch and suggests that the ability of HR protein to mediate postnatal hair-cycling has been altered in the course of human evolution.
22155146 We have identified a novel heterozygous missense mutation in a Chinese patient with Marie Unna hereditary hypotrichosis.
21982945 deletion mutants of hairless indicate that the JmjC domain contributes to the co-repressor activity
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AA Sequence

MESTPSFLKGTPTWEKTAPENGIVRQEPGSPPRDGLHHGPLCLGEPAPFWRGVLSTPDSWLPPGFPQGPK      1 - 70
DMLPLVEGEGPQNGERKVNWLGSKEGLRWKEAMLTHPLAFCGPACPPRCGPLMPEHSGGHLKSDPVAFRP     71 - 140
WHCPFLLETKILERAPFWVPTCLPPYLVSGLPPEHPCDWPLTPHPWVYSGGQPKVPSAFSLGSKGFYYKD    141 - 210
PSIPRLAKEPLAAAEPGLFGLNSGGHLQRAGEAERPSLHQRDGEMGAGRQQNPCPLFLGQPDTVPWTSWP    211 - 280
ACPPGLVHTLGNVWAGPGDGNLGYQLGPPATPRCPSPEPPVTQRGCCSSYPPTKGGGLGPCGKCQEGLEG    281 - 350
GASGASEPSEEVNKASGPRACPPSHHTKLKKTWLTRHSEQFECPRGCPEVEERPVARLRALKRAGSPEVQ    351 - 420
GAMGSPAPKRPPDPFPGTAEQGAGGWQEVRDTSIGNKDVDSGQHDEQKGPQDGQASLQDPGLQDIPCLAL    421 - 490
PAKLAQCQSCAQAAGEGGGHACHSQQVRRSPLGGELQQEEDTATNSSSEEGPGSGPDSRLSTGLAKHLLS    491 - 560
GLGDRLCRLLRREREALAWAQREGQGPAVTEDSPGIPRCCSRCHHGLFNTHWRCPRCSHRLCVACGRVAG    561 - 630
TGRAREKAGFQEQSAEECTQEAGHAACSLMLTQFVSSQALAELSTAMHQVWVKFDIRGHCPCQADARVWA    631 - 700
PGDAGQQKESTQKTPPTPQPSCNGDTHRTKSIKEETPDSAETPAEDRAGRGPLPCPSLCELLASTAVKLC    701 - 770
LGHERIHMAFAPVTPALPSDDRITNILDSIIAQVVERKIQEKALGPGLRAGPGLRKGLGLPLSPVRPRLP    771 - 840
PPGALLWLQEPQPCPRRGFHLFQEHWRQGQPVLVSGIQRTLQGNLWGTEALGALGGQVQALSPLGPPQPS    841 - 910
SLGSTTFWEGFSWPELRPKSDEGSVLLLHRALGDEDTSRVENLAASLPLPEYCALHGKLNLASYLPPGLA    911 - 980
LRPLEPQLWAAYGVSPHRGHLGTKNLCVEVADLVSILVHADTPLPAWHRAQKDFLSGLDGEGLWSPGSQV    981 - 1050
STVWHVFRAQDAQRIRRFLQMVCPAGAGALEPGAPGSCYLDAGLRRRLREEWGVSCWTLLQAPGEAVLVP   1051 - 1120
AGAPHQVQGLVSTVSVTQHFLSPETSALSAQLCHQGPSLPPDCHLLYAQMDWAVFQAVKVAVGTLQEAK    1121 - 1189
//

Text Mined References (50)

PMID Year Title
24961381 2014 Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis.
24334705 2014 Hairless is a histone H3K9 demethylase.
24261346 2014 Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in the U2HR gene and literature review.
24236410 2014 Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of the U2HR and EPS8L3 genes.
24190897 2014 Vitamin D receptor-mediated control of Soggy, Wise, and Hairless gene expression in keratinocytes.
24111842 2013 Identification of novel mutation in the HR gene responsible for atrichia with papular lesions in a Pakistani family.
23293922 2013 Identification of a novel heterozygous mutation in the first Japanese case of Marie Unna hereditary hypotrichosis.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22355551 2011 Molecular evolution of HR, a gene that regulates the postnatal cycle of the hair follicle.
22155146 Identification of a novel U2HR mutation c.14C>T in a Chinese patient with Marie Unna hereditary hypotrichosis.
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