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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

HR Gene

protein-coding   GIFtS: 55
GCID: GC08M022028

hair growth associated

(Previous names: hairless (mouse) homolog, hairless homolog (mouse) )
(Previous symbol: ALUNC)
 Explore 8 diseases affiliated with
HR via our new
 Human Malady Compendium 
Biological research products
for HR
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Hair Growth Associated1 2     Hairless Homolog (Mouse)1
AU1 2 5     HSA2771652
ALUNC1 2     MUHH2
MUHH12 5     Hairless Homolog2
Hairless (Mouse) Homolog1     Protein Hairless2

External Ids:    HGNC: 51721   Entrez Gene: 558062   Ensembl: ENSG000001684537   OMIM: 6023025   UniProtKB: O435933   

Export aliases for HR gene to outside databases

Previous GC identifers: GC08M021730 GC08M022324 GC08M021792 GC08M021994 GC08M020514


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for HR:
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 multiple regulatory ORFs that exist upstream of the primary ORF. Mutations in one of these upstream ORFs, U2HR,
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, Feb
2009)

UniProtKB/Swiss-Prot: HAIR_HUMAN, O43593
Function: May act as a transcription factor that could act on to regulate one of the phases of hair growth

Gene Wiki entry for HR


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HR gene promoter:
         GR   AhR   p53   AP-1   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): HR promoter sequence
   Search SABiosciences Chromatin IP Primers for HR

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HR


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21.2   Ensembl cytogenetic band:  8p21.3   HGNC cytogenetic band: 8p12

HR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HR gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M022028:  view genomic region     (about GC identifiers)

Start:
21,971,928 bp from pter      End:
21,990,897 bp from pter
Size:
18,970 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: HAIR_HUMAN, O43593 (See protein sequence)
Recommended Name: Protein hairless  
Size: 1189 amino acids; 127495 Da
Subcellular location: Nucleus
Secondary accessions: Q6GS30 Q96H33 Q9NPE1
Alternative splicing: 2 isoforms:  O43593-1   O43593-2   

Explore the universe of human proteins at neXtProt for HR: NX_O43593

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O43593

  • HR Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_005135.2  NP_060881.2  

    ENSEMBL proteins: 
     ENSP00000370826   ENSP00000326765   ENSP00000430413  

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    OriGene Protein Over-expression Lysate (see all 2): HR
    OriGene Custom Protein Services for HR 
    GenScript Custom Purified and Recombinant Proteins Services for HR
    Novus Biologicals HR Protein
    Novus Biologicals HR Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for HR

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000118histone deacetylase complex ----
    GO:0005634nucleus NAS9445480
    GO:0016604nuclear body IEA--


    HR for ontologies           About GeneDecksing



    HR Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Uscn Antibodies for HR
    Search ThermoFisher Antibodies for HR

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    Browse Kits and Assays available from EMD Millipore
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    Browse OriGene Fluorogenic Cell Assay Kits
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    Uscn ELISAs and CLIAs for HR


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    HR for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR003347 JmjC_dom

    Graphical View of Domain Structure for InterPro Entry O43593

    ProtoNet protein and cluster: O43593

    1 Blocks protein family: IPB003347 Transcription factor jumonji

    UniProtKB/Swiss-Prot: HAIR_HUMAN, O43593
    Similarity: Contains 1 JmjC domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: HAIR_HUMAN, O43593
    Function: May act as a transcription factor that could act on to regulate one of the phases of hair growth

         Genatlas biochemistry entry for HR:
    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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HR
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate HR (see all 16):
    hsa-miR-3934 hsa-miR-3194-5p hsa-miR-1263 hsa-miR-15a hsa-miR-374a hsa-miR-424 hsa-miR-195 hsa-miR-15b
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    Inhib. RNA
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    OriGene shRNA RFP: HR
    OriGene siRNA: HR
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: HR (NM_001621)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HR 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HR

    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding NAS9445480
    GO:0003700sequence-specific DNA binding transcription factor activity NAS9445480
    GO:0003714transcription corepressor activity IEA--
    GO:0005515protein binding ----
    GO:0042809vitamin D receptor binding ----


    HR for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Hrtm1Cct for HR
         15/17 MGI mutant phenotypes (inferred from 25 alleles(MGI details for Hr) (see all 17):
     behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system  integument 
     liver/biliary system  mortality/aging  nervous system  renal/urinary system  reproductive system 

    HR for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HR

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/49 Interacting proteins for HR (O435932, 3 ENSP000003708264) via UniProtKB, MINT, STRING, and/or I2D (see all 49)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VDRP114732, 3, ENSP000002290224MINT-18209 I2D: score=3 STRING: ENSP00000229022
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    RARAP102763, ENSP000002540664I2D: score=1 STRING: ENSP00000254066
    TBL1XO609073, ENSP000002179644I2D: score=1 STRING: ENSP00000217964
    HDAC1Q135473, ENSP000003626494I2D: score=3 STRING: ENSP00000362649
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent NAS9445480
    GO:0043433negative regulation of sequence-specific DNA binding transcription factor activity ----
    GO:0045892negative regulation of transcription, DNA-dependent IEA--
    GO:0051291protein heterooligomerization ----


    HR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for HR
    Search CenterWatch for drugs/clinical trials and news about HR / HAIR 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for HR gene (2 alternative transcripts): 
    NM_005144.4  NM_018411.4  

    Unigene Cluster for HR:

    Hair growth associated
    Hs.272367  [show with all ESTs]
    Unigene Representative Sequence: AF039196
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000381418(uc003xas.3) ENST00000312841(uc003xat.3) ENST00000522016
    ENST00000522039 ENST00000517699 ENST00000518461 ENST00000519619 ENST00000522759(uc010lts.2)
    ENST00000518377

    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat HR
    8/16 QIAGEN miScript miRNA Assays for microRNAs that regulate HR (see all 16):
    hsa-miR-3934 hsa-miR-3194-5p hsa-miR-1263 hsa-miR-15a hsa-miR-374a hsa-miR-424 hsa-miR-195 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidHR 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for HR (see all 7)
    OriGene shRNA RFP: HR
    OriGene siRNA: HR
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat HR
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for HR (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for HR (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: HR (NM_001621)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HR 
    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for HR
    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HR
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HR

    Additional cDNA sequence: 

    AF039196.3 AJ277165.2 BC008946.2 BC067128.1 

    10 DOTS entries:

    DT.91940379  DT.75198674  DT.40195765  DT.40281617  DT.40227638  DT.100728972  DT.100781950  DT.100781953 
    DT.120638295  DT.120638297 

    24/81 AceView cDNA sequences (see all 81):

    AK098053 BM799906 BQ961259 AI911834 AW295656 BM765508 BC067128 AA364375 
    NM_005144 AJ277165 AA227941 AL833253 NM_018411 BM716768 BF528023 BQ217662 
    AW001084 AW468652 AI669990 BF346259 BU196087 BG676789 AI269295 BM982749 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for HR (see all 8)    About this scheme

    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:                                                                                                                                                            

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


    ECgene alternative splicing isoforms for HR

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    HR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ATTTCCATTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See HR Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HR

    SOURCE GeneReport for Unigene cluster: Hs.272367

    UniProtKB/Swiss-Prot: HAIR_HUMAN, O43593
    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

        SABiosciences Expression via Pathway-Focused PCR Array including HR: 
              Notch Signaling Pathway in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HR

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for HR gene from 2/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G119506
    AT1G623106
    (see all 6)
    Transcription factor jumonji (jmjC) domain-contain...
    transcription factor jumonji domain-containing pro...
    (see all 6)
    14(a)
    14(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    1(4034587-4038758)
    1(23036039-23039609)
    rice
    (Oryza sativa)
    Liliopsida --
    --
    (see all 6)
    conserved hypothetical protein
    (see all 6)
    17(a)
    15(a)
    (see all 6)
    many ↔ many
    many ↔ many
    (see all 6)
    9(13594421-13600888)
    9(13351011-13353250)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HR gene
    JMJD1C2  KDM3B2  KDM3A2  

    HR for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/484 NCBI SNPs in HR are shown (see all 484    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs70148511,2
    C,F,A,H,pathogenic21976710(+) TGGTGT/CGTCGG 4 /T /A mis1 ese318Minor allele frequency- C:0.10NS EA NA WA CSA EU 7623
    rs1131708161,2
    C,--20531205(+) GGCAGC/TGCCAG 2 -- int11Minor allele frequency- T:0.50WA 2
    rs558790181,2
    --20531304(+) CTGGTC/GCTCTC 2 -- int10--------
    rs595660581,2
    F,--20531323(+) GCACAT/CGGCAC 2 -- int11Minor allele frequency- C:0.04WA 118
    rs283842661,2
    C,F,--20531447(+) TTGCGT/GCCTAG 2 -- int1 ese38Minor allele frequency- G:0.38NA WA CSA 249
    rs587857191,2
    C,F,--20531483(+) GTCTGT/CCCCTG 2 -- int13Minor allele frequency- C:0.11WA 122
    rs766216201,2
    F,--20531520(+) GTCTGG/AAGAGG 2 -- int11Minor allele frequency- A:0.03EA 120
    rs78430651,2
    C,--20531883(+) AACCTC/TGGCCT 2 -- int10--------
    rs78320201,2
    C,F,A,H,--20531929(+) CCTTGC/GAAGCG 2 -- int111Minor allele frequency- G:0.23NS EA WA CSA NA 664
    rs78184481,2
    C,--20531955(+) CTCTAG/TCTTGG 2 -- int1 tfbs33Minor allele frequency- T:0.08WA CSA 121

    HapMap Linkage Disequilibrium report for HR (21971928 - 21990897 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for HR
         5 CNVs: 2746 30283 53638 3726 4586
    Human Gene Mutation Database (HGMD): HR

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing HR
    DNA2.0 Custom Variant and Variant Library Synthesis for HR

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    HR for disorders           About GeneDecksing

    OMIM gene information: 602302   
    OMIM disorders: 203655  209500  146550  
    UniProtKB/Swiss-Prot: HAIR_HUMAN, O43593
  • Defects in HR are the cause of alopecia universalis congenita (ALUNC) [MIM:203655]. ALUNC is a rare autosomal
  • recessive form of hair loss characterized by hair follicles without hair
  • Defects in HR are the cause of atrichia with papular lesions (APL) [MIM:209500]; also known as congenital
  • atrichia. APL is an autosomal recessive disease characterized by papillary lesions over most of the body and almost
    complete absence of hair
  • Defects in HR are the cause of hypotrichosis type 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

    8 diseases for HR:    About MalaCards
    atrichia with papular lesions    hypotrichosis, hereditary, marie unna type, 1    hypotrichosis    alopecia
    alopecia universalis    androgenetic alopecia    thyroiditis    autosomal recessive disease

    1 disease from the University of Copenhagen DISEASES database for HR:
    Alopecia

    3 Novoseek disease relationships for HR gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    atrichia 97.8 5 16023329 (1), 10051399 (1), 12653749 (1), 12271294 (1) (see all 5)
    papular atrichia 97.5 2 10594736 (1), 11966690 (1)
    congenital alopecia 91.4 1 11966690 (1)

    Genetic Association Database (GAD): HR
    Human Genome Epidemiology (HuGE) Navigator: HR (1242 documents)

    Export disorders for HR gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for HR gene, integrated from 9 sources (see all 52):
    (articles sorted by number of sources associating them with HR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization of the human hairless gene (HR) and identification of a mutation underlying congenital atrichia in an Arab Palestinian family. (PubMed id 10051399)1, 2, 3, 9 Ahmad W.... Christiano A.M. (1999)
    2. The hairless gene in androgenetic alopecia: results of a systematic mutation screening and a family-based association approach. (PubMed id 11966690)1, 4, 9 Hillmer A.M....Cichon S. (2002)
    3. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis. (PubMed id 19122663)1, 2 Wen Y.... Zhang X. (2009)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    5. A novel missense mutation affecting the human hairless thyroid receptor interacting domain 2 causes congenital atrichia. (PubMed id 12406339)1, 2 Klein I.... Sprecher E. (2002)
    6. Variant 1859G-->A (Arg620Gln) of the 'hairless' gene: absence of association with papular atrichia or androgenic alopecia. (PubMed id 11410842)1, 2 Hillmer A.M.... Cichon S. (2001)
    7. Alopecia universalis associated with a mutation in the human hairless gene. (PubMed id 9445480)1, 2 Ahmad W.... Christiano A.M. (1998)
    8. A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers. (PubMed id 9758627)1, 2 Ahmad W.... Christiano A.M. (1998)
    9. Cloning, genomic organization, alternative transcripts and mutational analysis of the gene responsible for autosomal recessive universal congenital alopecia. (PubMed id 9736769)1, 2 Cichon S.... Noethen M.M. (1998)
    10. A gene for universal congenital alopecia maps to chro mosome 8p21-22. (PubMed id 9463324)1, 3 NAPthen M.M....Rietschel M. (1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55806 HGNC: 5172 AceView: HR Ensembl:ENSG00000168453 euGenes: HUgn55806
    ECgene: HR H-InvDB: HR

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for HR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/HR

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for HR gene:
    Search GeneIP for patents involving HR

    GeneCards and IP:
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