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KRT83 Gene

protein-coding   GIFtS: 47
GCID: GC12M052708

Keratin 83

(Previous names: keratin, hair, basic, 3)
(Previous symbol: KRTHB3)
  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
Keratin 831 2     Hard Keratin Type II1
KRTHB31 2 3 5     Hb-32
Keratin, Hair, Basic, 31 2     hHb32
Hair Keratin K2.102 3     Hard Keratin, Type II, 32
Type II Hair Keratin Hb32 3     Keratin, Type II Cuticular Hb32
Type-II Keratin Kb232 3     keratin-832
K832 3     Keratin-833
HB32 5     

External Ids:    HGNC: 64601   Entrez Gene: 38892   Ensembl: ENSG000001705237   OMIM: 6027655   UniProtKB: P783853   

Export aliases for KRT83 gene to outside databases

Previous GC identifers: GC12M050995 GC12M049751


(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 KRT83 Gene:
The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic
protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are
clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure
similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related
subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair
keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRT83 Gene:
KRT83 (keratin 83) is a protein-coding gene. Diseases associated with KRT83 include petroclival meningioma, and parotid gland cancer. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT74.

Gene Wiki entry for KRT83 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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Regulatory elements:
   Regulatory transcription factor binding sites in the KRT83 gene promoter:
         AhR   NF-1/L   NF-1   Pax-2a   YY1   Arnt   C/EBPalpha   AREB6   CHOP-10   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT83 promoter sequence
   Search Chromatin IP Primers for KRT83

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT83


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

Entrez Gene cytogenetic band: 12q13   Ensembl cytogenetic band:  12q13.13   HGNC cytogenetic band: 12q13.13

KRT83 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT83 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M052708:  view genomic region     (about GC identifiers)

Start:
52,708,085 bp from pter      End:
52,715,182 bp from pter
Size:
7,098 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: KRT83_HUMAN, P78385 (See protein sequence)
Recommended Name: Keratin, type II cuticular Hb3  
Size: 493 amino acids; 54195 Da
Subunit: Heterotetramer of two type I and two type II keratins
Miscellaneous: There are two types of hair/microfibrillar keratin, I (acidic) and II (neutral to basic)
Secondary accessions: A1A4S9 B2RC21 Q6NT21 Q9NSB3

Explore the universe of human proteins at neXtProt for KRT83: NX_P78385

Explore proteomics data for KRT83 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KRT83 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002273.3  
    ENSEMBL proteins: 
     ENSP00000293670  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    IFF2: Intermediate filaments type II, keratins (basic)

    4 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR009030 Growth_fac_rcpt_N_dom
     IPR001664 IF
     IPR003054 Keratin_II

    Graphical View of Domain Structure for InterPro Entry P78385

    ProtoNet protein and cluster: P78385

    3 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB002223 Pancreatic trypsin inhibitor (Kunitz)
    IPB003054 Type II keratin signature


    UniProtKB/Swiss-Prot: KRT83_HUMAN, P78385
    Similarity: Belongs to the intermediate filament family


    KRT83 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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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
         
    KRT83 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT83:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRT83
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    hsa-miR-149 hsa-miR-4330 hsa-miR-589* hsa-miR-630 hsa-miR-223*
    SwitchGear 3'UTR luciferase reporter plasmidKRT83 3' UTR sequence
    Inhib. RNA
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    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    cytoskeleton2
    lysosome2
    mitochondrion2
    vacuole2
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space IDA--
    GO:0005882intermediate filament ----
    GO:0045095keratin filament IEA--

    KRT83 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRT83
    Interactions:

        Search GeneGlobe Interaction Network for KRT83

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008544epidermis development TAS9084137

    KRT83 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 KRT83



    (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,
    Conferences by KenesGroup, 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 KRT83 gene: 
    NM_002282.3  

    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000293670(uc001saf.2)
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate KRT83:
    hsa-miR-149 hsa-miR-4330 hsa-miR-589* hsa-miR-630 hsa-miR-223*
    SwitchGear 3'UTR luciferase reporter plasmidKRT83 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: KRT83 (NM_002282)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT83
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat KRT83
      QuantiFast Probe-based Assays in human, mouse, rat KRT83

    11 AceView cDNA sequences:

    BC069546 NM_002282 X99141 BF748403 BQ941413 BU158573 BQ217126 BQ877238 
    BF748396 BQ217125 BQ927834 

    GeneLoc Exon Structure


    (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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    KRT83 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KRT83 Expression
    About this image

    KRT83 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT83 Protein Expression

    UniProtKB/Swiss-Prot: KRT83_HUMAN, P78385
    Tissue specificity: Synthesis begins in the cortex 10-15 cell layers above the apex of the dermal papilla and ends
    abruptly in the middle of the cortex

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT83

    (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 human and mouse.

    Orthologs for KRT83 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt835
    5430421N21Rik1
    keratin 835
    RIKEN cDNA 5430421N21 gene1
    86.75(n)1
    88.91(a)1
      15 (56.90 cM)5
    1001262261  NM_001201323.11  NP_001188252.11 
     1014314905 


    ENSEMBL Gene Tree for KRT83 (if available)
    TreeFam Gene Tree for KRT83 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT83 gene
    KRT742  KRT772  KRT6B2  KRT762  KRT32  KRT842  KRT862  KRT82  
    KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT6C2  KRT52  
    KRT6A2  KRT852  KRT22  KRT752  KRT12  KRT822  KRT42  
    Selected SIMAP similar genes for KRT83 using alignment to 2 protein entries:     KRT83_HUMAN (see all proteins) (see all similar genes):
    KRT121P    KRTHB6    KRT81    KRTHB1    KRT86    KRT85
    KRT7    KRT72    KRT82    KRT84    KRTHB2    KRT8
    KRT1    KRT75    KRT5    KRT1B    KRT4    KRT78

    KRT83 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 KRT83 (see all 324)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0230524
    Monilethrix (MLTRX)4--see VAR_0230522 E K mis40--------
    rs578022881,2
    Cpathogenic152544032(-) ATATCA/GAGATC 2 K E mis10--------
    rs37417151,2
    C,F,A,Huntested152547287(-) CTCAAC/TCACGT 2 N syn1 ese321Minor allele frequency- T:0.36EA NS NA WA CSA EU 9562
    rs123010941,2
    C,F,H--52541918(+) GGTCCA/GGACTG 1 -- ds50016Minor allele frequency- G:0.37NS NA WA EA 466
    rs28576741,2
    C,F,A,H--52541921(-) TGTCAA/GTCTGG 1 -- ds500112Minor allele frequency- G:0.25WA NA CSA EA 380
    rs1159182851,2
    C,F--52541986(+) CCTACG/ATGGAA 1 -- ds50011Minor allele frequency- A:0.07WA 118
    rs1168774551,2
    F--52542010(+) GCAGAG/CTGAAG 1 -- ds50011Minor allele frequency- C:0.01EA 120
    rs1902548081,2
    --52542270(+) CCTACA/GGGTGT 1 -- ds50010--------
    rs28576731,2
    C,F,A--52542281(-) TCTCCG/CCCTGG 1 -- ds50019Minor allele frequency- C:0.37WA NA CSA EA 370
    rs28524541,2
    C,A--52542359(+) TGGGGG/AACCCC 1 -- ds50016Minor allele frequency- A:0.25WA NA EA 364

    HapMap Linkage Disequilibrium report for KRT83 (52708085 - 52715182 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KRT83 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899089CNV Loss21882294
    nsv899088CNV Loss21882294
    nsv899087CNV Loss21882294
    dgv29e180CNV Gain20482838
    dgv200n27CNV Gain19166990
    esv29967CNV Gain17803354
    dgv70e55CNV Gain17911159
    nsv818917CNV Gain17921354
    nsv516938CNV Gain+Loss19592680
    esv27319CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): KRT83
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT83
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT83

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602765   
    OMIM disorders: 158000  
    UniProtKB/Swiss-Prot: KRT83_HUMAN, P78385
  • Monilethrix (MLTRX) [MIM:158000]: Autosomal dominant hair disorder characterized clinically by alopecia
    and follicular papules. Affected hairs have uniform elliptical nodes of normal thickness and intermittent
    constrictions, internodes at which the hair easily breaks. Usually only the scalp is involved, but in severe
    forms, the secondary sexual hair, eyebrows, eyelashes, and nails may also be affected. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 12 diseases for KRT83:    About MalaCards
    petroclival meningioma    parotid gland cancer    localized autosomal recessive hypotrichosis    autosomal recessive hypotrichosis
    monilethrix    hypotrichosis    alopecia    malaria
    meningioma    multiple myeloma    myeloma    pancreatitis

    4 diseases from the University of Copenhagen DISEASES database for KRT83:
    Monilethrix     Malaria     Petroclival meningioma     Parotid gland cancer

    KRT83 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for KRT83 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    monilethrix 95.2 3 16575393 (1), 10504448 (1), 16439973 (1)

    Genetic Association Database (GAD): KRT83

    Export disorders for KRT83 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 KRT83 gene, integrated from 10 sources (see all 14):
    (articles sorted by number of sources associating them with KRT83)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Sequences and differential expression of three novel human type-II hair keratins. (PubMed id 9084137)1, 2, 3, 9 Rogers M.A....Schweizer J. (Differentiation 1997)
    2. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (J. Cell Biol. 2006)
    3. A missense mutation in the type II hair keratin hHb3 is associated with monilethrix. (PubMed id 15744029)1, 2 van Steensel M.A....van Geel M. (J. Med. Genet. 2005)
    4. Characterization of a 300 kbp region of human DNA containing the type II hair keratin. (PubMed id 10692104)1, 2 Rogers M.A.... Schweizer J. (J. Invest. Dermatol. 2000)
    5. The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins. (PubMed id 11445569)1, 9 Langbein L....Schweizer J. (J. Biol. Chem. 2001)
    6. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    7. Charting the molecular network of the drug target Bcr-Abl. (PubMed id 19380743)1 Brehme M....Superti-Furga G. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    8. Keratins of the human hair follicle. (PubMed id 15797458)1 Langbein L. and Schweizer J. (Int. Rev. Cytol. 2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (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: 3889 HGNC: 6460 AceView: KRTHB3 Ensembl:ENSG00000170523 euGenes: HUgn3889
    ECgene: KRT83 H-InvDB: KRT83

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for KRT83 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KRT83[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT83 gene:
    Search GeneIP for patents involving KRT83

    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
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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