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KRT84 Gene

protein-coding   GIFtS: 50
GCID: GC12M052771

Keratin 84

(Previous names: keratin, hair, basic, 4)
(Previous symbol: KRTHB4)
  See KRT84-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 841 2     Hard Keratin Type II 41
KRTHB41 2 3 5     Hard Keratin, Type II, 42
Keratin, Hair, Basic, 41 2     Keratin, Type II Cuticular Hb42
Type II Hair Keratin Hb42 3     keratin-842
Type-II Keratin Kb242 3     Type II Hair Keratin 42
K842 3     Keratin-843
HB42 5     

External Ids:    HGNC: 64611   Entrez Gene: 38902   Ensembl: ENSG000001618497   OMIM: 6027665   UniProtKB: Q9NSB23   

Export aliases for KRT84 gene to outside databases

Previous GC identifers: GC12M051058 GC12M049815


(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 KRT84 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 is contained primarily in the filiform tongue papilla, among other hair keratins. (provided by RefSeq,
Jul 2008)

GeneCards Summary for KRT84 Gene:
KRT84 (keratin 84) is a protein-coding gene. Diseases associated with KRT84 include petroclival meningioma, and meningioma. GO annotations related to this gene include structural constituent of cytoskeleton and structural constituent of epidermis. An important paralog of this gene is KRT74.




(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 at NCBI GenBank:
NC_000012.11  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT84 gene promoter:
         STAT5B   CRE-BP1   p53   ATF-2   Hand1   RelA   NF-kappaB1   NF-kappaB   LCR-F1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT84 promoter sequence
   Search Chromatin IP Primers for KRT84

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT84


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

KRT84 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT84 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M052771:  view genomic region     (about GC identifiers)

Start:
52,771,596 bp from pter      End:
52,779,436 bp from pter
Size:
7,841 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: KRT84_HUMAN, Q9NSB2 (See protein sequence)
Recommended Name: Keratin, type II cuticular Hb4  
Size: 600 amino acids; 64842 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: B2RA43 Q6ISB0 Q701L6

Explore the universe of human proteins at neXtProt for KRT84: NX_Q9NSB2

Explore proteomics data for KRT84 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys175, Lys182
  • Modification sites at PhosphoSitePlus

  • See KRT84 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_149034.2  
    ENSEMBL proteins: 
     ENSP00000257951  

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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)

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR003054 Keratin_II

    Graphical View of Domain Structure for InterPro Entry Q9NSB2

    ProtoNet protein and cluster: Q9NSB2

    3 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature
    IPB003054 Type II keratin signature


    UniProtKB/Swiss-Prot: KRT84_HUMAN, Q9NSB2
    Similarity: Belongs to the intermediate filament family


    Find genes that share domains with KRT84           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton NAS10692104
    GO:0030280structural constituent of epidermis IEA--
         
    Find genes that share ontologies with KRT84           About GenesLikeMe


    Animal Models:
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    2 qRT-PCR Assays for microRNAs that regulate KRT84:
    hsa-miR-221* hsa-miR-942
    SwitchGear 3'UTR luciferase reporter plasmidKRT84 3' UTR sequence
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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
    cytoskeleton5
    cytosol2
    mitochondrion2
    nucleus1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament ----
    GO:0045095keratin filament IDA10692104
    GO:0045111intermediate filament cytoskeleton ----

    Find genes that share ontologies with KRT84           About GenesLikeMe


    (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 KRT84
    Interactions:

        Search GeneGlobe Interaction Network for KRT84

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    Selected Interacting proteins for KRT84 (Q9NSB23 ENSP000002579514) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLX1BQ9BQ833, ENSP000003289404I2D: score=1 STRING: ENSP00000328940
    SLX1AQ9BQ833I2D: score=1 
    USP37Q86T823, ENSP000002583994I2D: score=2 STRING: ENSP00000258399
    ATG12O948173I2D: score=1 
    FYCO1Q9BQS83I2D: score=1 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001942hair follicle development NAS10692104
    GO:0035878nail development NAS10692104
    GO:0045616regulation of keratinocyte differentiation IEA--

    Find genes that share ontologies with KRT84           About GenesLikeMe



    (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 KRT84



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for KRT84 gene: 
    NM_033045.3  

    Unigene Cluster for KRT84:

    Keratin 84
    Hs.272336  [show with all ESTs]
    Unigene Representative Sequence: BC069647
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000257951(uc001sah.1)
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate KRT84:
    hsa-miR-221* hsa-miR-942
    SwitchGear 3'UTR luciferase reporter plasmidKRT84 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat KRT84

    Additional mRNA sequence: 

    AJ628420.1 AK314030.1 BC069647.1 

    2 DOTS entries:

    DT.99950980  DT.121119174 

    3 AceView cDNA sequences:

    NM_033045 BC069647 AJ628420 

    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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    KRT84 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAGATGCTCC
    KRT84 Expression
    About this image


    KRT84 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Gut Tube (Gastrointestinal Tract)
             Pharynx
    KRT84 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT84 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.272336

    UniProtKB/Swiss-Prot: KRT84_HUMAN, Q9NSB2
    Tissue specificity: Expressed in the hair follicles

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT84

    (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 chordates.

    Orthologs for KRT84 gene from Selected species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt841 , 5 keratin 841, 5 82.85(n)1
    82.57(a)1
      15 (56.90 cM)5
    166801  NM_008474.21  NP_032500.21 
     1015250265 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 4)
    Uncharacterized protein
    (see all 4)
    56(a)
    49(a)
    (see all 4)
    1 ↔ many
    1 ↔ many
    (see all 4)
    2(95789077-95799482)
    2(95805788-95817465)
    zebrafish
    (Danio rerio)
    Actinopterygii si:dkey-222f2.11 si:dkey-222f2.1 62.45(n)
    59.37(a)
      568321  XM_691644.5  XP_696736.2 


    ENSEMBL Gene Tree for KRT84 (if available)
    TreeFam Gene Tree for KRT84 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT84 gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT32  KRT862  KRT82  
    KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT6C2  KRT52  
    KRT6A2  KRT852  KRT22  KRT752  KRT12  KRT822  KRT42  
    Selected SIMAP similar genes for KRT84 using alignment to 1 protein entry:     KRT84_HUMAN(see all similar genes):
    KRT121P    KRT7    KRT5    KRT82    KRT83    KRT85
    KRT86    KRTHB2    KRT8    KRT81    KRT6A    KRT6B
    KRT6C    KRT71    KRT1B    KRT4    KRT72    KRT73

    Find genes that share paralogs with KRT84           About GenesLikeMe



    (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 KRT84 (see all 395)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs17322801,2
    C,F,A,H--49814701(+) TGGACA/GGGGCT 1 -- ds5001 ese310Minor allele frequency- G:0.15MN NS EA NA WA 726
    rs177143031,2
    C,F,H--49814729(+) CAGGGG/ACAGGA 1 -- ds5001 ese39Minor allele frequency- A:0.04NA NS 876
    rs1496795781,2
    --49814738(+) GAGTAC/TGGGGA 1 -- ds50010--------
    rs17322811,2
    C,F,H--49814758(+) AGCCCG/ACCTGT 1 -- ds5001 ese318Minor allele frequency- A:0.20MN NS EA NA WA CSA 2154
    rs1455228281,2
    C--49814782(+) ACCTCA/GTGGAC 1 -- ds50010--------
    rs17322821,2
    C,F,O,A,H--49814789(-) CATGCA/GAGTCC 1 -- ds500120Minor allele frequency- G:0.20NS EA NA WA CSA 2036
    rs22799061,2
    C,F--49814813(+) AACAAA/CCCAGG 1 -- ds5001 ese37Minor allele frequency- C:0.48EA NA 1936
    rs1885577031,2
    --49814820(+) CAGGAA/GGAGAA 1 -- ds50010--------
    rs22556681,2
    C,F,O,A,H--49814858(+) AAGCCA/GTCTCG 1 -- ds500112Minor allele frequency- G:0.19NS EA NA WA CSA 800
    rs1807018341,2
    --49814866(+) TCGGGG/TTTTAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KRT84 (52771596 - 52779436 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for KRT84 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv899089CNV Loss21882294
    nsv832411CNV Loss17160897
    dgv29e180CNV Gain20482838
    dgv200n27CNV Gain19166990
    esv29967CNV Gain17803354
    dgv70e55CNV Gain17911159
    nsv818917CNV Gain17921354
    nsv8972CNV Gain18304495
    nsv832410CNV Gain17160897
    nsv516938CNV Gain+Loss19592680

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT84
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602766    OMIM disorders: --

    2 diseases for KRT84:    
    About MalaCards
    petroclival meningioma    meningioma

    2 diseases from the University of Copenhagen DISEASES database for KRT84:
    Petroclival meningioma     Anemia

    Find genes that share disorders with KRT84           About GenesLikeMe


    Export disorders for KRT84 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 KRT84 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with KRT84)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (J. Cell Biol. 2006)
    2. Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. (PubMed id 15737194)1, 2 Rogers M.A....Schweizer J. (J. Invest. Dermatol. 2005)
    3. 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)
    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 complement of native alpha-keratin polypeptides of hair-forming cells: a subset of eight polypeptides that differ from epithelial cytokeratins. (PubMed id 2431943)1, 3 Heid H.W....Franke W.W. ( research in biological diversity 1986)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    8. 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)
    9. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    10. Dynamics of cullin-RING ubiquitin ligase network revealed by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (Cell 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 3890 HGNC: 6461 AceView: KRTHB4 Ensembl:ENSG00000161849 euGenes: HUgn3890
    ECgene: KRT84 H-InvDB: KRT84

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for KRT84 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT84 gene:
    Search GeneIP for patents involving KRT84

    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, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, 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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