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Aliases for HR Gene

Aliases for HR Gene

  • HR, Lysine Demethylase And Nuclear Receptor Corepressor 2 3 5
  • Hair Growth Associated 2 3
  • Lysine-Specific Demethylase Hairless 3
  • Hairless Homolog (Mouse) 2
  • Hairless Homolog 3
  • Protein Hairless 3
  • EC 1.14.11.- 4
  • HSA277165 3
  • HYPT4 3
  • MUHH1 3
  • ALUNC 3
  • MUHH 3
  • AU 3

External Ids for HR Gene

Previous HGNC Symbols for HR Gene

  • ALUNC

Previous GeneCards Identifiers for HR Gene

  • GC08M021730
  • GC08M022324
  • GC08M021792
  • GC08M021994
  • GC08M022028
  • GC08M020514
  • GC08M021971

Summaries for HR Gene

Entrez Gene Summary for HR Gene

  • 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]

GeneCards Summary for HR Gene

HR (HR, Lysine Demethylase And Nuclear Receptor Corepressor) is a Protein Coding gene. Diseases associated with HR include Alopecia Universalis and Atrichia With Papular Lesions. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription corepressor activity. An important paralog of this gene is JMJD1C.

UniProtKB/Swiss-Prot for HR Gene

  • Histone demethylase that specifically demethylates both mono- and dimethylated Lys-9 of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle.

Gene Wiki entry for HR Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HR Gene

Genomics for HR Gene

Regulatory Elements for HR Gene

Enhancers for HR Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G021907 1.2 ENCODE dbSUPER 11.3 +221.9 221932 7.8 PKNOX1 WRNIP1 ARID4B TCF12 ZNF766 GLIS2 ZNF143 FOS JUNB MXD4 FGF17 NPM2 HR SORBS3 GFRA2 DOK2 GC08M021903
GH08G022053 1.3 ENCODE dbSUPER 7.4 +78.1 78129 4.0 HDGF MLX ARID4B SIN3A DMAP1 ZNF48 GLIS2 ZNF766 SP5 MXD4 DMTN HR GC08M022066
GH08G022136 1.2 Ensembl ENCODE 0.7 -4.1 -4100 1.0 AGO1 ARID4B SIN3A GLI4 ZNF2 ZNF48 ZNF143 KLF7 KLF13 KDM4B REEP4 HR
GH08G022129 0.9 ENCODE 0.7 +1.8 1751 4.7 ATF1 ARID4B KLF17 SIN3A RAD21 THRB GLIS2 EGR1 PCBP1 EGR2 NUDT18 HR GC08M022111
GH08G022138 1.4 FANTOM5 ENCODE 0.4 -7.4 -7416 4.6 HDGF PKNOX1 CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 REEP4 SORBS3 POLR3D HR
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around HR on UCSC Golden Path with GeneCards custom track

Genomic Location for HR Gene

Chromosome:
8
Start:
22,114,415 bp from pter
End:
22,133,384 bp from pter
Size:
18,970 bases
Orientation:
Minus strand

Genomic View for HR Gene

Genes around HR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
HR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for HR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HR Gene

Proteins for HR Gene

  • Protein details for HR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43593-HAIR_HUMAN
    Recommended name:
    Lysine-specific demethylase hairless
    Protein Accession:
    O43593
    Secondary Accessions:
    • Q6GS30
    • Q96H33
    • Q9NPE1

    Protein attributes for HR Gene

    Size:
    1189 amino acids
    Molecular mass:
    127495 Da
    Cofactor:
    Name=Fe(2+); Xref=ChEBI:CHEBI:29033;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for HR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for HR Gene

Post-translational modifications for HR Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for HR Gene

No data available for DME Specific Peptides for HR Gene

Domains & Families for HR Gene

Protein Domains for HR Gene

Suggested Antigen Peptide Sequences for HR Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43593

UniProtKB/Swiss-Prot:

HAIR_HUMAN :
  • Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The LXXLL motifs are essential for the association with nuclear receptors (By similarity).
Domain:
  • Contains two Leu-Xaa-Xaa-Leu-Leu (LXXLL) motifs. The LXXLL motifs are essential for the association with nuclear receptors (By similarity).
  • The JmjC domain and the C6-type zinc-finger are required for the demethylation activity.
genes like me logo Genes that share domains with HR: view

No data available for Gene Families for HR Gene

Function for HR Gene

Molecular function for HR Gene

GENATLAS Biochemistry:
hairless,putative transcription factor,mouse homolog,with two alternatively spliced isoforms,one containing exon 17,expressed in all tissues but skin,the other lacking exon 17,specifically expressed in skin
UniProtKB/Swiss-Prot Function:
Histone demethylase that specifically demethylates both mono- and dimethylated Lys-9 of histone H3. May act as a transcription regulator controlling hair biology (via targeting of collagens), neural activity, and cell cycle.

Enzyme Numbers (IUBMB) for HR Gene

Gene Ontology (GO) - Molecular Function for HR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IBA --
GO:0003677 DNA binding NAS 9445480
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 9445480
GO:0003714 transcription corepressor activity IEA --
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with HR: view
genes like me logo Genes that share phenotypes with HR: view

Human Phenotype Ontology for HR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for HR Gene

MGI Knock Outs for HR:
  • Hr tm1Cct

Animal Model Products

miRNA for HR Gene

miRTarBase miRNAs that target HR

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for HR Gene

Localization for HR Gene

Subcellular locations from UniProtKB/Swiss-Prot for HR Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for HR gene
Compartment Confidence
nucleus 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for HR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IBA --
GO:0005634 nucleus NAS 9445480
GO:0005654 nucleoplasm IDA --
GO:0016604 nuclear body IEA --
genes like me logo Genes that share ontologies with HR: view

Pathways & Interactions for HR Gene

No Data Available

Gene Ontology (GO) - Biological Process for HR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated NAS 9445480
GO:0033169 histone H3-K9 demethylation IBA --
GO:0045892 negative regulation of transcription, DNA-templated IEA --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with HR: view

No data available for Pathways by source and SIGNOR curated interactions for HR Gene

Drugs & Compounds for HR Gene

(41) Drugs for HR Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Estradiol Approved, Investigational, Vet_approved Pharma Sex hormone 1318
Ethambutol Approved Pharma 84
Ethinyl Estradiol Approved Pharma Oral contraceptive 728
Fentanyl Approved, Illicit, Investigational, Vet_approved Pharma Full agonist, Agonist 821
Isoniazid Approved Pharma 155
genes like me logo Genes that share compounds with HR: view

Transcripts for HR Gene

Unigene Clusters for HR Gene

Hair growth associated:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HR Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a ·
SP1: - - - -
SP2: - - - - - -
SP3: - -
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 18b ^ 19 ^ 20
SP1:
SP2: -
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

Relevant External Links for HR Gene

GeneLoc Exon Structure for
HR
ECgene alternative splicing isoforms for
HR

Expression for HR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for HR Gene

mRNA differential expression in normal tissues according to GTEx for HR Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x7.6) and Skin - Sun Exposed (Lower leg) (x7.1).

Protein differential expression in normal tissues from HIPED for HR Gene

This gene is overexpressed in Heart (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for HR Gene



Protein tissue co-expression partners for HR Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of HR Gene:

HR

SOURCE GeneReport for Unigene cluster for HR Gene:

Hs.272367

mRNA Expression by UniProt/SwissProt for HR Gene:

O43593-HAIR_HUMAN
Tissue specificity: Strongest expression of isoforms 1 and 2 is seen in the small intestine, weaker expression in brain and colon, and trace expression is found in liver, pancreas, spleen, thymus, stomach, salivary gland, appendix and trachea. Isoform 1 is always the most abundant. Isoform 1 is exclusively expressed at low levels in kidney and testis. Isoform 2 is exclusively expressed at high levels in the skin.

Evidence on tissue expression from TISSUES for HR Gene

  • Nervous system(4.7)
  • Skin(4.5)
  • Eye(4.1)
  • Blood(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for HR Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • integumentary
  • nervous
Organs:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
  • scalp
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • hair
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with HR: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for HR Gene

Orthologs for HR Gene

This gene was present in the common ancestor of animals.

Orthologs for HR Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia HR 34 35
  • 99.13 (n)
dog
(Canis familiaris)
Mammalia HR 34 35
  • 86.43 (n)
cow
(Bos Taurus)
Mammalia HR 34 35
  • 84.87 (n)
mouse
(Mus musculus)
Mammalia Hr 34 16 35
  • 81.67 (n)
rat
(Rattus norvegicus)
Mammalia Hr 34
  • 81.43 (n)
oppossum
(Monodelphis domestica)
Mammalia HR 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia HR 35
  • 59 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta JHDM2 35
  • 24 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7055 35
  • 21 (a)
OneToMany
Species where no ortholog for HR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for HR Gene

ENSEMBL:
Gene Tree for HR (if available)
TreeFam:
Gene Tree for HR (if available)

Paralogs for HR Gene

Paralogs for HR Gene

genes like me logo Genes that share paralogs with HR: view

Variants for HR Gene

Sequence variations from dbSNP and Humsavar for HR Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs121434448 Pathogenic, Alopecia universalis congenita (ALUNC) [MIM:203655] 22,116,400(-) CAGCG(A/T)CACTC reference, missense
rs121434451 Pathogenic, Alopecia universalis congenita (ALUNC) [MIM:203655] 22,119,227(-) TGGCC(A/G)ACCTG reference, missense
rs7014851 Uncertain significance, Alopecia universalis congenita (ALUNC) [MIM:203655] 22,119,197(+) TGGTG(C/T)GTCGG reference, missense
VAR_035927 A colorectal cancer sample
rs121434449 Pathogenic 22,123,727(-) ACTGG(C/T)GATGT reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for HR Gene

Variant ID Type Subtype PubMed ID
dgv12054n54 CNV loss 21841781
dgv12055n54 CNV loss 21841781
dgv450n21 CNV loss 19592680
dgv881n27 CNV loss 19166990
esv2759604 CNV loss 17122850
nsv465613 CNV loss 19166990
nsv470204 CNV loss 18288195
nsv524720 CNV loss 19592680
nsv527293 CNV loss 19592680
nsv528590 CNV loss 19592680
nsv610765 CNV loss 21841781
nsv610770 CNV loss 21841781
nsv831263 CNV loss 17160897
nsv831264 CNV gain+loss 17160897
nsv951112 CNV deletion 24416366

Variation tolerance for HR Gene

Residual Variation Intolerance Score: 96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.01; 87.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HR Gene

Human Gene Mutation Database (HGMD)
HR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
HR

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for HR Gene

Disorders for HR Gene

MalaCards: The human disease database

(10) MalaCards diseases for HR Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
alopecia universalis
  • alopecia universalis congenita
atrichia with papular lesions
  • apl
hypotrichosis 4
  • hypotrichosis, marie unna type, 1
marie unna congenital hypotrichosis
  • hypotrichosis, marie unna type
alopecia
- elite association - COSMIC cancer census association via MalaCards
Search HR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HAIR_HUMAN
  • Alopecia universalis congenita (ALUNC) [MIM:203655]: A rare disorder characterized by loss of hair from the entire body. No hair are present in hair follicles on skin biopsy. {ECO:0000269 PubMed:12406339, ECO:0000269 PubMed:24334705, ECO:0000269 PubMed:9445480, ECO:0000269 PubMed:9736769}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Atrichia with papular lesions (APL) [MIM:209500]: An autosomal recessive disease characterized by papillary lesions over most of the body and almost complete absence of hair. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hypotrichosis 4 (HYPT4) [MIM:146550]: An autosomal dominant condition characterized by reduced amount of hair, alopecia, little or no eyebrows, eyelashes or body hair, and coarse, wiry, twisted hair in early childhood. {ECO:0000269 PubMed:19122663, ECO:0000269 PubMed:24961381}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for HR

Genetic Association Database (GAD)
HR
Human Genome Epidemiology (HuGE) Navigator
HR
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HR
genes like me logo Genes that share disorders with HR: view

No data available for Genatlas for HR Gene

Publications for HR Gene

  1. Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. (PMID: 10051399) Ahmad W. … Christiano A.M. (Genomics 1999) 2 3 4 22 64
  2. Hairless is a histone H3K9 demethylase. (PMID: 24334705) Liu L. … Christiano A.M. (FASEB J. 2014) 2 3 4 64
  3. The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach. (PMID: 11966690) Hillmer A.M. … Cichon S. (Br. J. Dermatol. 2002) 3 22 46 64
  4. Identification of a novel U2HR mutation in a Korean woman with Marie Unna hereditary hypotrichosis. (PMID: 24961381) Yun S.K. … Park J. (Int. J. Dermatol. 2014) 3 4 64
  5. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. (PMID: 19122663) Wen Y. … Zhang X. (Nat. Genet. 2009) 3 4 64

Products for HR Gene

Sources for HR Gene

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