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

KRT6C Gene

protein-coding   GIFtS: 50
GCID: GC12M052865

Keratin 6C

(Previous name: keratin 6E)
(Previous symbol: KRT6E)
  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)
About This Section

Aliases
Keratin 6C1 2     K6E2
KRT6E1 2 3     cytokeratin-6C2
Keratin 6E1 2     cytokeratin-6E2
Keratin K6h2 3     Keratin, Type II Cytoskeletal 6C2
Type-II Keratin Kb122 3     keratin-6C2
CK-6C2 3     Cytokeratin-6C3
CK-6E2 3     Cytokeratin-6E3
K6C2 3     Keratin-6C3

External Ids:    HGNC: 204061   Entrez Gene: 2868872   Ensembl: ENSG000001704657   OMIM: 6123155   UniProtKB: P486683   

Export aliases for KRT6C gene to outside databases

Previous GC identifers: GC12U990221 GC12M052911 GC12M052597 GC12M051169 GC12M051172 GC12M051174 GC12M051150 GC12M049906


(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 KRT6C Gene:
Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are
subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of
chromosome 12q13. (provided by RefSeq, Jul 2009)

GeneCards Summary for KRT6C Gene: 
KRT6C (keratin 6C) is a protein-coding gene. Diseases associated with KRT6C include focal palmoplantar keratoderma, and krt6a-related pachyonychia congenita, and among its related super-pathways are Cytoskeleton remodeling Keratin filaments. GO annotations related to this gene include structural molecule activity. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRT6C gene promoter:
         AREB6   AML1a   Pax-5   FOXO4   STAT5A   HNF-4alpha1   YY1   GATA-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT6C promoter sequence
   Search SABiosciences Chromatin IP Primers for KRT6C

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT6C


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

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

KRT6C Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT6C gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M052865:  view genomic region     (about GC identifiers)

Start:
52,862,300 bp from pter      End:
52,867,569 bp from pter
Size:
5,270 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: K2C6C_HUMAN, P48668 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 6C  
Size: 564 amino acids; 60025 Da
Subunit: Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17
Miscellaneous: There are at least six isoforms of human type II keratin-6 (K6)
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to
basic) (40-55 and 56-70 kDa, respectively)
Secondary accessions: A1L4L5 P48666 Q2TAZ9 Q7RTN9

Explore the universe of human proteins at neXtProt for KRT6C: NX_P48668

Explore proteomics data for KRT6C at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P48668

  • KRT6C Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRT6C Protein Expression
    REFSEQ proteins: NP_775109.2  
    ENSEMBL proteins: 
     ENSP00000252250  

    Human Recombinant Protein Products for KRT6C: 
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    Cloud-Clone Corp. Proteins for KRT6C 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament NAS--
    GO:0045095keratin filament IEA--

    KRT6C for ontologies           About GeneDecksing



    KRT6C Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IFF2: Intermediate filaments type II, keratins (basic)

    4 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR016044 F
     IPR003054 Keratin_II

    Graphical View of Domain Structure for InterPro Entry P48668

    ProtoNet protein and cluster: P48668

    2 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB003054 Type II keratin signature


    UniProtKB/Swiss-Prot: K2C6C_HUMAN, P48668
    Similarity: Belongs to the intermediate filament family


    KRT6C 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity NAS--
         
    KRT6C for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT6C:
     Decreased viability with pacli 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for KRT6C 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT6C 
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    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate KRT6C:
    hsa-miR-2278
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    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KRT6C About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments0.91
    2Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KRT6C
        Cytoskeleton remodeling Keratin filaments


    1 Cell Signaling Technology (CST) Pathway for KRT6C
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for KRT6C
        Cytoskeleton remodeling Keratin filaments



    KRT6C for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRT6C

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

    5/42 Interacting proteins for KRT6C (P486683 ENSP000002522504) via UniProtKB, MINT, STRING, and/or I2D (see all 42)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GABARAPO951663I2D: score=2 
    GABARAPL1Q9H0R83I2D: score=2 
    AMBRA1Q9C0C73I2D: score=1 
    ATG12O948173I2D: score=1 
    ATG13O751433I2D: score=1 
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization NAS--

    KRT6C for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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 KRT6C (K2C6C)

    Search CenterWatch for drugs/clinical trials and news about KRT6C / K2C6C

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KRT6C gene: 
    NM_173086.4  

    Unigene Cluster for KRT6C:

    Keratin 6C
    Hs.709234  [show with all ESTs]
    Unigene Representative Sequence: BC110639
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252250(uc001sal.4) ENST00000553087
    miRNA
    Products:
         
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate KRT6C:
    hsa-miR-2278
    SwitchGear 3'UTR luciferase reporter plasmidKRT6C 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Clone
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                         Customized lentivirus expression plasmids for stable overexpression of KRT6C 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT6C
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT6C

    Additional mRNA sequence: 

    AK299478.1 AK313239.1 BC110639.1 BC130583.1 BC130585.1 L42611.1 

    24/77 DOTS entries (see all 77):

    DT.97773116  DT.95206987  DT.97845748  DT.91944354  DT.121117466  DT.121118029  DT.121118150  DT.100740885 
    DT.92011339  DT.121118016  DT.121118707  DT.100651500  DT.92410359  DT.95319513  DT.100651504  DT.100868025 
    DT.121117842  DT.91671355  DT.92019058  DT.100872408  DT.98083683  DT.100651511  DT.121118544  DT.91796941 

    4 AceView cDNA sequences:

    BQ351997 BF835702 BG997611 BG997608 

    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™, 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

    KRT6C expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGCACAAG
    KRT6C Expression
    About this image


    See KRT6C Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT6C

    SOURCE GeneReport for Unigene cluster: Hs.709234

    UniProtKB/Swiss-Prot: K2C6C_HUMAN, P48668
    Tissue specificity: Constitutively expressed in distinct types of epithelia such as those in oral mucosa,
    esophagus, papillae of tongue and hair follicle outer root sheath

        SABiosciences Custom PCR Arrays for KRT6C
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT6C

    (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 chordates.

    Orthologs for KRT6C gene from 1/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves --
    --
    58(a)
    possible ortholog
    LGE22C19W28_E50C23(558727-563179)
            Species with no ortholog for KRT6C

    ENSEMBL Gene Tree for KRT6C (if available)
    TreeFam Gene Tree for KRT6C (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT6C gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT32  KRT842  KRT862  
    KRT82  KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT52  
    KRT6A2  KRT852  KRT22  KRT752  KRT12  KRT822  KRT42  
    18/46 SIMAP similar genes for KRT6C using alignment to 1 protein entry:     K2C6C_HUMAN(see all similar genes):
    KRT6A    KRT6B    KRT5    KRT7    KRT75    KRT79
    KRT4    KRT121P    KRT72    KRT1B    KRT2    KRT1
    KRT78    KRT74    KRT77    KRT71    KRT73    KRT76

    KRT6C 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) 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

    10/382 SNPs in KRT6C are shown (see all 382)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1890553581,2
    --49905702(+) TGCACA/GGTCTC 1 -- ds50010--------
    rs38436491,2
    C,F,A,H--49905760(+) TATTGA/GTTGCT 1 -- ds500119Minor allele frequency- G:0.23EA NA NS WA CSA 1056
    rs100831031,2
    C,F,H--49905763(+) TGATTG/ACTGTT 1 -- ds50016Minor allele frequency- A:0.03NS EA WA 536
    rs4313381,2
    C,F,A--49905863(+) TATTTG/AGCCAA 1 -- ds500110Minor allele frequency- A:0.43NA EA 388
    rs3703541,2
    C,F,A,H--49905939(+) AAGTCC/TGAGGG 1 -- ds500117Minor allele frequency- T:0.30NS EA NA WA CSA 788
    rs38478301,2
    C,F,A,H--49906028(+) CAAACA/GTTTAG 1 -- ds500110Minor allele frequency- G:0.22NA WA EA 506
    rs1816077561,2
    --49906098(+) CCTCTC/GTAAAG 1 -- ds50010--------
    rs1493681331,2
    --49906147(+) AAAAAC/TAAAAA 1 -- ds50010--------
    rs3890451,2
    C,F,A--49906155(+) AAAGGC/TGTTTG 1 -- ds500110Minor allele frequency- T:0.42NA EA 390
    rs568797501,2
    C--49906260(+) CACAGG/AGAGAA 1 -- ut312Minor allele frequency- A:0.09WA 120

    HapMap Linkage Disequilibrium report for KRT6C (52862300 - 52867569 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for KRT6C:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2660079CNV Deletion23128226
    esv2745892CNV Deletion23290073
    dgv95n21CNV Loss19592680
    nsv832412CNV Loss17160897
    esv2751106CNV Loss17911159
    nsv832411CNV Loss17160897
    nsv899090CNV Loss21882294
    esv7827CNV Loss19470904
    nsv899091CNV Gain21882294
    nsv832410CNV Gain17160897


    Human Gene Mutation Database (HGMD): KRT6C
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT6C
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT6C

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 612315    OMIM disorders: --

    6 diseases for KRT6C:    About MalaCards
    focal palmoplantar keratoderma    krt6a-related pachyonychia congenita    pachyonychia congenita    palmoplantar keratosis
    keratoderma    keratosis


    KRT6C for disorders           About GeneDecksing


    Export disorders for KRT6C 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 KRT6C gene, integrated from 9 sources (see all 18):
    (articles sorted by number of sources associating them with KRT6C)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms. (PubMed id 7543104)1, 2, 3 Takahashi K.... Coulombe P.A. (1995)
    2. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (2006)
    3. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)1, 2 Scherer S.E.... Gibbs R.A. (2006)
    4. Genes for intermediate filament proteins and the draft sequence of the human genome: novel keratin genes and a surprisingly high number of pseudogenes related to keratin genes 8 and 18. (PubMed id 11683385)1, 2 Hesse M.... Weber K. (2001)
    5. Phosphorylation of human keratin 8 in vivo at conserved head domain serine 23 and at epidermal growth factor-stimulated tail domain serine 431. (PubMed id 9054461)1, 2 Ku N.-O. and Omary M.B. (1997)
    6. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    7. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)1 Shi Y....Qin J. (2011)
    8. Ubiquitin ligase substrate identification through qua ntitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 286887 HGNC: 20406 AceView: KRT6E Ensembl:ENSG00000170465 euGenes: HUgn286887
    ECgene: KRT6C H-InvDB: KRT6C

    (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 KRT6C Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KRT6C gene:
    Search GeneIP for patents involving KRT6C

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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