ENSG00000168453


Homo sapiens

Features
Gene ID: ENSG00000168453
  
Biological name :HR
  
Synonyms : HR / HR, lysine demethylase and nuclear receptor corepressor / O43593
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: p21.3
Gene start: 22114415
Gene end: 22133384
  
Corresponding Affymetrix probe sets: 210086_at (Human Genome U133 Plus 2.0 Array)   220163_s_at (Human Genome U133 Plus 2.0 Array)   241355_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000430413
Ensembl peptide - ENSP00000326765
Ensembl peptide - ENSP00000370826
NCBI entrez gene - 55806     See in Manteia.
OMIM - 602302
RefSeq - XM_006716367
RefSeq - NM_005144
RefSeq - NM_018411
RefSeq - XM_005273569
RefSeq Peptide - NP_060881
RefSeq Peptide - NP_005135
swissprot - O43593
swissprot - E5RK80
Ensembl - ENSG00000168453
  
Related genetic diseases (OMIM): 146550 - Hypotrichosis 4, 146550
  203655 - Alopecia universalis, 203655
  209500 - Atrichia with papular lesions, 209500
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 HrENSMUSG00000022096Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
JMJD1C / Q15652 / jumonji domain containing 1CENSG0000017198827
KDM3B / Q7LBC6 / lysine demethylase 3BENSG0000012073321
KDM3A / Q9Y4C1 / lysine demethylase 3AENSG0000011554819


Protein motifs (from Interpro)
Interpro ID Name
 IPR003347  JmjC domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IBA
 biological_processGO:0033169 histone H3-K9 demethylation IBA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0055114 oxidation-reduction process IEA
 cellular_componentGO:0000785 chromatin IBA
 cellular_componentGO:0005634 nucleus IBA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0016604 nuclear body IEA
 molecular_functionGO:0000976 transcription regulatory region sequence-specific DNA binding IBA
 molecular_functionGO:0003677 DNA binding NAS
 molecular_functionGO:0003700 DNA-binding transcription factor activity NAS
 molecular_functionGO:0003714 transcription corepressor activity IEA
 molecular_functionGO:0016491 oxidoreductase activity IEA
 molecular_functionGO:0031490 chromatin DNA binding IBA
 molecular_functionGO:0032454 histone demethylase activity (H3-K9 specific) IBA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000535 Sparse eyebrows 
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 HP:0000561 Absent eyelashes "Lack of eyelashes." [HPO:curators]
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 HP:0000653 Sparse eyelashes "Decreased density/number of eyelashes." [pmid:19125427]
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 HP:0001006 Hypotrichosis "Reduced or lacking hair growth." [HPO:curators]
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 HP:0001596 Alopecia "Loss of hair from the head or body." [HPO:curators]
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 HP:0001939 Metabolism abnormality 
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 HP:0002208 Coarse hair 
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 HP:0002209 Sparse scalp hair "Sparseness of the `head hair` (FMA:54241)." [HPO:probinson]
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 HP:0002223 Absent eyebrows 
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 HP:0002229 Alopecia areata 
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 HP:0002231 Sparse body hair "Sparseness of the body hair." [HPO:probinson]
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 HP:0002289 Alopecia, complete 
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 HP:0003777 Pili torti "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [HPO:curators]
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 HP:0007482 Papillary lesions, generalized 
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 HP:0100840 Aplasia/Hypoplasia of the eyebrow "Absence or underdevelopment of the eyebrow." [HPO:probinson]
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 HP:0200102 Sparse/absent eyelashes 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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