Species

Homo sapiens

Symbol

HR

Name

HR lysine demethylase and nuclear receptor corepressor

Synonyms

[histone H3]-dimethyl-L-lysine(9) demethylase hairless
alopecia universalis congenitalis (autosomal recessive)

Biotype

protein coding gene

Automated Description

Predicted to enable chromatin DNA binding activity; histone H3K9 demethylase activity; and transcription corepressor activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within negative regulation of DNA-templated transcription. Located in nucleoplasm. Implicated in alopecia; alopecia universalis; and atrichia with papular lesions.

RGD Description

This gene encodes a protein that is involved in hair growth. This protein functions as a transcriptional corepressor of multiple nuclear receptors, including thyroid hormone receptor, the retinoic acid receptor-related orphan receptors and the vitamin D receptors, and it interacts with histone deacetylases. The translation of this protein is modulated by a regulatory open reading frame (ORF) that exists upstream of the primary ORF. Mutations in this upstream ORF cause Marie Unna hereditary hypotrichosis (MUHH), an autosomal dominant form of genetic hair loss. Mutations in this gene also cause autosomal recessive congenital alopecia and atrichia with papular lesions, other diseases resulting in hair loss. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2014]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR12549

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Show functions with at least one experimental evidence

Pathways

No data available

Phenotypes

Primary Sources

None

Other Sources

BioGRID CRISPR Screen Cell Line Phenotypes

Phenotype Term	Annotation details	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Disease Associations

Include negative annotationsCases where the expected disease association was NOT found

Cell color indicative of annotation volume

No data available

Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Download all Alleles/Variants for all genes of the species

Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Sequence Feature Viewer

Genome location

Chr8:22114419...22133384 - (18.97 kb)

Assembly version

GRCh38

Viewer Help

Data currently unavailable; sequence viewer under construction

Sequence Details

Loading...

Expression

Primary Sources

None

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

HR molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Genetic Interactions

HR role	HR genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page