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HR Gene

protein-coding   GIFtS: 54
GCID: GC08M021971

Hair Growth Associated

(Previous names: hairless (mouse) homolog, hairless homolog (mouse))
(Previous symbol: ALUNC)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Hair Growth Associated1 2     Hairless Homolog (Mouse)1
ALUNC1 2     HSA2771652
AU2 5     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 GC08M022028 GC08M020514


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

GeneCards Summary for HR Gene:
HR (hair growth associated) is a protein-coding gene. Diseases associated with HR include hypotrichosis, hereditary, marie unna type, 1, and alopecia. GO annotations related to this gene include transcription corepressor activity and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is KDM3B.

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 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_167187.2  NC_018919.2  
Regulatory elements:
   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 Chromatin IP Primers for HR

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC08M021971:  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, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: HAIR_HUMAN, O43593 (See protein sequence)
Recommended Name: Protein hairless  
Size: 1189 amino acids; 127495 Da
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

Explore proteomics data for HR at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See HR Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000370826   ENSP00000326765   ENSP00000430413  

    HR Human Recombinant Protein Products:

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    OriGene Custom MassSpec
    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 Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HR

    HR Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for HR (Hairless)
    OriGene Antibodies for HR
    OriGene Custom Antibody Services for HR
    Novus Biologicals HR Antibodies
    Abcam antibodies for HR
    Cloud-Clone Corp. Antibodies for HR
    Search ThermoFisher Antibodies for HR
    LSBio Antibodies in human, mouse, rat for HR

    HR Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for HR
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for HR
    Cloud-Clone Corp. CLIAs for HR


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR003347 JmjC_dom

    Graphical View of Domain Structure for InterPro Entry O43593

    ProtoNet protein and cluster: O43593

    1 Blocks protein domain: IPB003347 Transcription factor jumonji

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


    HR for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 5 molecular function terms:    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:0046872metal ion binding IEA--
         
    HR for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 26 alleles(MGI details for Hr) (see all 17):
     behavior/neurological  cellular  digestive/alimentary  endocrine/exocrine gland  growth/size/body 
     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

    Animal Models:
         MGI mouse knock-out Hrtm1Cct for HR

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for HR
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for HR

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HR
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HR

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat HR using miScript Target Protectors
    Selected qRT-PCR 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:
        
    OriGene RNAi products in human, mouse, rat for HR
    Predesigned siRNA for gene silencing in human, mouse, rat HR

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for HR

    Clone
    Products:
         
    OriGene clones in human, mouse for HR (see all 9)
    OriGene ORF clones in mouse, rat for HR
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: HR (NM_001621)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for HR
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat HR

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for HR
    Browse ESI BIO Cell Lines and PureStem Progenitors for HR 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HR


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    HAIR_HUMAN, O43593: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS9445480
    GO:0016604nuclear body IEA--

    HR for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including HR: 
              Notch Signaling Pathway in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for HR

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

    Selected Interacting proteins for HR (O435932, 3 ENSP000003708264) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000215641P143733I2D: score=1 
    ENSG00000229006P143733I2D: score=1 
    ENSG00000234495P143733I2D: score=1 
    ENSG00000237071P143733I2D: score=1 
    TRIM27P143733I2D: score=1 
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0006355regulation of transcription, DNA-templated NAS9445480
    GO:0045892negative regulation of transcription, DNA-templated IEA--

    HR for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for HR (HAIR)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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
    Products:
         
    Block miRNA regulation of human, mouse, rat HR using miScript Target Protectors
    Selected qRT-PCR 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:
         
    OriGene RNAi products in human, mouse, rat for HR
    Predesigned siRNA for gene silencing in human, mouse, rat HR
    Clone
    Products:
         
    OriGene clones in human, mouse for HR (see all 9)
    OriGene ORF clones in mouse, rat for HR
    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
    Products:
        
    OriGene qPCR primer pairs and template standards for HR
    OriGene qSTAR qPCR primer pairs in human, mouse for HR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HR
      QuantiTect SYBR Green Assays in human, mouse, rat HR
      QuantiFast Probe-based Assays in human, mouse, rat HR

    Additional mRNA 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 

    Selected AceView cDNA sequences (see all 81):

    AJ277165 BC067128 BM799906 AW295656 NM_005144 BM765508 AA364375 NM_018411 
    AI911834 AA227941 AK098053 BQ961259 BM716768 AL833253 BE543385 BU159280 
    BF346259 AI445261 AI829722 AW291630 BQ217662 Z38324 BG743219 AI040227 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    HR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTTCCATTA
    HR Expression
    About this image

    HR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    HR Protein Expression

    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

        Pathway & Disease-focused RT2 Profiler PCR Array including HR: 
              Notch Signaling Pathway in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for HR
    OriGene qSTAR qPCR primer pairs in human, mouse for HR
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat HR
    QuantiTect SYBR Green Assays in human, mouse, rat HR
    QuantiFast Probe-based Assays in human, mouse, rat HR
    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)
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    This gene was present in the common ancestor of animals.

    Orthologs for HR gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hr1 , 5 hairless1, 5 81.67(n)1
    80.12(a)1
      14 (36.32 cM)5
    154601  NM_021877.31  NP_068677.21 
     705522125 
    fruit fly
    (Drosophila melanogaster)
    Insecta JHDM26
    JmjC domain-containing histone demethylase 2
    24(a)
    1 → many
    3R(5341731-5346660)


    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)
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    Paralogs for HR gene
    KDM3B2  JMJD1C2  KDM3A2  

    HR for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for HR (see all 865)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs70148511,2,,4
    C,F,A,HAlopecia universalis congenita (ALUNC)4 pathogenic122230691(+) TGGTGT/CGTCGG 4 /T /A mis1 ese318Minor allele frequency- C:0.10NS EA NA WA CSA EU 7623
    VAR_0359274
    A colorectal cancer sample4--see VAR_0359272 R Q mis40--------
    VAR_0162224
    Alopecia universalis congenita (ALUNC)4--see VAR_0162222 D N mis40--------
    VAR_0052674
    Alopecia universalis congenita (ALUNC)4--see VAR_0052672 V D mis40--------
    rs1131708161,2
    C,F--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
    rs1820308501,2
    --20531329(+) GGCACG/TCCCCA 2 -- int10--------
    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

    HapMap Linkage Disequilibrium report for HR (21971928 - 21990897 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for HR (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv527293CNV Loss19592680
    dgv7758n71CNV Loss21882294
    nsv528590CNV Loss19592680
    dgv881n27CNV Loss19166990
    nsv465613CNV Loss19166990
    nsv470204CNV Loss18288195
    dgv7757n71CNV Loss21882294
    nsv524720CNV Loss19592680
    nsv890654CNV Loss21882294
    nsv890657CNV Loss21882294

    Human Gene Mutation Database (HGMD): HR
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers 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.)
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    OMIM gene information: 602302   
    OMIM disorders: 203655  209500  146550  
    UniProtKB/Swiss-Prot: HAIR_HUMAN, O43593
  • 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. 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for HR:    
    About MalaCards
    hypotrichosis, hereditary, marie unna type, 1    alopecia    alopecia universalis    atrichia with papular lesions
    androgenic alopecia    hypotrichosis    autosomal recessive disease    thyroiditis
    breast and colorectal cancer    obesity    multiple myeloma    myeloma
    colorectal cancer

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

    HR for disorders           About GeneDecksing

    3 Novoseek inferred 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)
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    PubMed articles for HR gene, integrated from 10 sources (see all 56):
    (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. (Genomics 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. (Br. J. Dermatol. 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. (Nat. Genet. 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. (Genome Res. 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. (J. Invest. Dermatol. 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. (Am. J. Hum. Genet. 2001)
    7. Alopecia universalis associated with a mutation in the human hairless gene. (PubMed id 9445480)1, 2 Ahmad W.... Christiano A.M. (Science 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. (Am. J. Hum. Genet. 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. (Hum. Mol. Genet. 1998)
    10. A gene for universal congenital alopecia maps to chromosome 8p21-22. (PubMed id 9463324)1, 3 NAPthen M.M....Rietschel M. (Am. J. Hum. Genet. 1998)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55806 HGNC: 5172 AceView: HR Ensembl:ENSG00000168453 euGenes: HUgn55806
    ECgene: HR H-InvDB: HR

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for HR Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=HR[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for HR gene:
    Search GeneIP for patents involving HR

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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