HR (HR lysine demethylase and nuclear receptor corepressor)

2017-11-01  

Identity

HGNC
LOCATION
8p21.3
LOCUSID
ALIAS
ALUNC,AU,HSA277165,HYPT4,MUHH,MUHH1

Other Information

Locus ID:

NCBI: 55806
MIM: 602302
HGNC: 5172
Ensembl: ENSG00000168453

Variants:

dbSNP: 55806
ClinVar: 55806
TCGA: ENSG00000168453
COSMIC: HR

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000168453ENST00000312841O43593
ENSG00000168453ENST00000381418O43593
ENSG00000168453ENST00000517699E5RK80

Expression (GTEx)

0
50
100
150

References

Pubmed IDYearTitleCitations
191226632009Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis.40
162694532006Hairless suppresses vitamin D receptor transactivation in human keratinocytes.25
176092032007Interactions of the vitamin D receptor with the corepressor hairless: analysis of hairless mutants in atrichia with papular lesions.16
200874312009Hairless is a nuclear receptor corepressor essential for skin function.12
243347052014Hairless is a histone H3K9 demethylase.9
198975892010Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis.7
178690662007Nonsense mutations in the hairless gene underlie APL in five families of Pakistani origin.6
198199742009Modulation of vitamin d receptor activity by the corepressor hairless: differential effects of hairless isoforms.6
205129272010Analysis of hairless corepressor mutants to characterize molecular cooperation with the vitamin D receptor in promoting the mammalian hair cycle.6
122712942002Atrichia with papular lesions resulting from compound heterozygous mutations in the hairless gene: A lesson for differential diagnosis of alopecia universalis.5

Citation

Dessen P

HR (HR lysine demethylase and nuclear receptor corepressor)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/gene/57241/hr