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KRT4 Gene

protein-coding   GIFtS: 59
GCID: GC12M053200

Keratin 4


(Previous symbol: CYK4)
  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 41 2     keratin1
CYK41 2 3 5     Type II Cytoskeletal 41
Cytokeratin 41 2     CK42
Type-II Keratin Kb42 3     Keratin, Type II Cytoskeletal 42
CK-42 3     Cytokeratin-43
K42 3     Keratin-43

External Ids:    HGNC: 64411   Entrez Gene: 38512   Ensembl: ENSG000001704777   OMIM: 1239405   UniProtKB: P190133   

Export aliases for KRT4 gene to outside databases

Previous GC identifers: GC12M053448 GC12P053657 GC12M052627 GC12M051486 GC12M050244


(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 KRT4 Gene:
The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic
or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation
of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in differentiated
layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been
associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II
cytokeratins are clustered in a region of chromosome 12q12-q13. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRT4 Gene:
KRT4 (keratin 4) is a protein-coding gene. Diseases associated with KRT4 include hereditary mucosal leukokeratosis, and white sponge nevus of cannon, krt4-related. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT74.

Gene Wiki entry for KRT4 (Keratin 4) 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_000012.12  NC_018923.2  NT_029419.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the KRT4 gene promoter:
         RFX1   p300   FOXD3   Tal-1beta   HNF-4alpha1   YY1   E47   PPAR-alpha   Zic1   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): KRT4 promoter sequence
   Search Chromatin IP Primers for KRT4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KRT4


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

KRT4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT4 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M053200:  view genomic region     (about GC identifiers)

Start:
53,200,327 bp from pter      End:
53,208,335 bp from pter
Size:
8,009 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: K2C4_HUMAN, P19013 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 4  
Size: 534 amino acids; 57285 Da
Subunit: Heterotetramer of two type I and two type II keratins. Keratin-4 is generally associated with keratin-13
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II
(neutral to basic; 56-70 kDa)
Secondary accessions: F8VS64 Q6GTR8 Q96LA7 Q9BTL1

Explore the universe of human proteins at neXtProt for KRT4: NX_P19013

Explore proteomics data for KRT4 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See KRT4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_002263.3  
    ENSEMBL proteins: 
     ENSP00000448220   ENSP00000449755   ENSP00000447320   ENSP00000293774   ENSP00000387904  

    KRT4 Human Recombinant Protein Products:

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    Novus Biologicals KRT4 Proteins
    Novus Biologicals KRT4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KRT4

    KRT4 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of KRT4
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for KRT4  (K4)
    OriGene Antibodies for KRT4
    OriGene Custom Antibody Services for KRT4
    Novus Biologicals KRT4 Antibodies
    Abcam antibodies for KRT4 (P19013, P12035)
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    LSBio Antibodies in human, mouse, rat for KRT4

    KRT4 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KRT4
    Cloud-Clone Corp. CLIAs for KRT4


    (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 P19013

    ProtoNet protein and cluster: P19013

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


    UniProtKB/Swiss-Prot: K2C4_HUMAN, P19013
    Similarity: Belongs to the intermediate filament family


    KRT4 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:
         Genatlas biochemistry entry for KRT4:
    keratin 4,type II,non cornifying mucosal epithelia (buccal,nasal,esophageal,anogenital)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
         
    KRT4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT4:
     Decreased viability with pacli 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Krt4):
     craniofacial  digestive/alimentary  growth/size/body  integument  mortality/aging 
     pigmentation  vision/eye 

    KRT4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Krt4tm1Rak for KRT4

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KRT4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KRT4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KRT4

    miRNA
    Products:
        
    miRTarBase miRNAs that target KRT4:
    hsa-mir-335-5p (MIRT017456), hsa-mir-26b-5p (MIRT029264)

    Block miRNA regulation of human, mouse, rat KRT4 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate KRT4:
    hsa-miR-4323
    SwitchGear 3'UTR luciferase reporter plasmidKRT4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KRT4
    Predesigned siRNA for gene silencing in human, mouse, rat KRT4

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for KRT4 (see all 8)
    OriGene ORF clones in mouse, rat for KRT4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT4 (NM_002272)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT4

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for KRT4
    Browse ESI BIO Cell Lines and PureStem Progenitors for KRT4 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT4


    (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
    cytosol3
    nucleus2
    extracellular1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament NAS2452170
    GO:0045095keratin filament IEA--

    KRT4 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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    SuperPaths for KRT4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments
    2Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for KRT4
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for KRT4
        Cytoskeleton remodeling Keratin filaments



    KRT4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KRT4
    Interactions:

        GeneGlobe Interaction Network for KRT4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for KRT4 (P190133 ENSP000002937744) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLX1BQ9BQ833, ENSP000003289404I2D: score=1 STRING: ENSP00000328940
    ATG4BQ9Y4P13, ENSP000003842594I2D: score=2 STRING: ENSP00000384259
    SQSTM1Q135013, ENSP000003744554I2D: score=2 STRING: ENSP00000374455
    SLX1AQ9BQ833I2D: score=1 
    SLX4Q8IY923, ENSP000002940084I2D: score=1 STRING: ENSP00000294008
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007010cytoskeleton organization NAS2452170
    GO:0030855epithelial cell differentiation ISS--
    GO:0050680negative regulation of epithelial cell proliferation ISS--

    KRT4 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 KRT4 (K2C4)

    5 Novoseek inferred chemical compound relationships for KRT4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 46.5 11 8950195 (3), 10692107 (3), 15482329 (2), 12016958 (1) (see all 5)
    retinoid 42.6 4 10692107 (3), 1715297 (1)
    vitamin a 22.9 1 17943179 (1)
    progesterone 0 1 2038892 (1)
    estrogen 0 2 2038892 (1), 17624412 (1)



    KRT4 for compounds           About GeneDecksing



    (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 KRT4 gene: 
    NM_002272.3  

    Unigene Cluster for KRT4:

    Keratin 4
    Hs.654610  [show with all ESTs]
    Unigene Representative Sequence: AK056254
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000551956 ENST00000548097 ENST00000549295 ENST00000552668 ENST00000551436
    ENST00000293774(uc001saz.3) ENST00000458244
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KRT4 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate KRT4:
    hsa-miR-4323
    SwitchGear 3'UTR luciferase reporter plasmidKRT4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for KRT4
    Predesigned siRNA for gene silencing in human, mouse, rat KRT4
    Clone
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    OriGene clones in human, mouse for KRT4 (see all 8)
    OriGene ORF clones in mouse, rat for KRT4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KRT4 (NM_002272)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT4
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for KRT4
    OriGene qSTAR qPCR primer pairs in human, mouse for KRT4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat KRT4
      QuantiTect SYBR Green Assays in human, mouse, rat KRT4
      QuantiFast Probe-based Assays in human, mouse, rat KRT4

    Additional mRNA sequence: 

    AK056254.1 AK098110.1 AK296582.1 AK299394.1 AK299400.1 AK299451.1 AK307941.1 BC003630.2 
    BC012867.1 BC032132.2 BC042174.1 X07695.1 X67683.1 

    Selected DOTS entries (see all 47):

    DT.441275  DT.121119199  DT.121118172  DT.91718801  DT.121118677  DT.121119049  DT.121117729  DT.121118370 
    DT.95160542  DT.121118396  DT.121118625  DT.121117799  DT.121118071  DT.121117584  DT.121118407  DT.121118489 
    DT.100810977  DT.121119174  DT.121117777  DT.121117313  DT.100043393  DT.121117833  DT.121118128  DT.91759228 

    Selected AceView cDNA sequences (see all 251):

    AJ564105 BE735977 BP371899 AW265613 BG741384 BQ027522 AW082111 AU077018 
    BC039148 C00570 NM_175834 BM715509 BE742142 BM697307 BF830977 AK130156 
    AA629199 X07695 AI417481 AJ628418 BE746373 BG696559 BF088337 CD710424 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KRT4 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10
    SP1:                                      -                             -                                       
    SP2:                                      -           -                 -                                       
    SP3:        -           -     -     -     -                                                                     
    SP4:        -     -                       -                                                                     
    SP5:        -                                                                                                   


    ECgene alternative splicing isoforms for KRT4

    (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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    KRT4 expression in normal human tissues (normalized intensities)      KRT4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGCAGAGAAG
    KRT4 Expression
    About this image


    KRT4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Conjunctival Basal Epithelial Cells Conjunctival Epithelium
             Corneal Epithelium
     
     Epithelial Cells
             Conjunctival Basal Epithelial Cells Conjunctival Epithelium
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
             Nucleus Pulposus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Primitive Streak (Early Embryonic Tissues)
             Notochord
    KRT4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    KRT4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654610

    UniProtKB/Swiss-Prot: K2C4_HUMAN, P19013
    Tissue specificity: Detected in the suprabasal layer of the stratified epithelium of the esophagus, exocervix,
    vagina, mouth and lingual mucosa, and in cells and cell clusters in the mucosa and serous gland ducts of the
    esophageal submucosa (at protein level). Expressed widely in the exocervix and esophageal epithelium, with lowest
    levels detected in the basal cell layer

        Custom PCR Arrays for KRT4
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat KRT4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT4

    (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 KRT4 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt41 , 5 keratin 41, 5 83.05(n)1
    83.33(a)1
      15 (57.13 cM)5
    166821  NM_008475.21  NP_032501.21 
     1019185365 
    chicken
    (Gallus gallus)
    Aves KRT41 keratin 4 70.63(n)
    68.06(a)
      768882  XM_001231585.3  XP_001231586.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    55(a)
    1 → many
    2(95689544-95704356)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004894681 keratin, type II cytoskeletal 5-like 61.86(n)
    62.08(a)
      100489468  XM_002935730.2  XP_002935776.1 


    ENSEMBL Gene Tree for KRT4 (if available)
    TreeFam Gene Tree for KRT4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KRT4 gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT32  KRT842  KRT862  
    KRT82  KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT6C2  
    KRT52  KRT6A2  KRT852  KRT22  KRT752  KRT12  KRT822  
    Selected SIMAP similar genes for KRT4 using alignment to 5 protein entries:     K2C4_HUMAN (see all proteins) (see all similar genes):
    NEFM    KRTHB6    KRT5    KRT7    KRT1B    KRT6B
    KRT6C    KRT6A    KRT3    KRT121P    KRT72    KRT77
    KRT79    KRT78    KRT1    KRT71    KRT8    KRT74

    KRT4 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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    K2C4_HUMAN, P19013: Three alleles of K4 are known: K4A2 (shown here), K4A1 and K4B


    Selected SNPs for KRT4 (see all 344)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0160384
    White sponge nevus of Cannon (WSN)4--see VAR_0160382 E K mis40--------
    rs20358791,2
    C,F,O,A,Huntested153035014(+) CTCTGC/TCCATG 1 -- ut31 ese330Minor allele frequency- T:0.19MN NS EA NA WA CSA 2757
    rs19947551,2
    C,F,O,A,H--53034313(+) AAATAA/GGGAGG 1 -- ds500124Minor allele frequency- G:0.42MN NA NS EA WA 2666
    rs1444257811,2
    --53034329(+) CTAGAC/TACAGA 1 -- ds50010--------
    rs1114024051,2
    C--53034425(+) CCCCCC/AACCTG 1 -- ds50012Minor allele frequency- A:0.05CSA WA 120
    rs749594051,2
    C,F--53034474(+) CAGCAT/CTGAAA 1 -- ds50011Minor allele frequency- C:0.14WA 118
    rs171193721,2
    C,F,H--53034495(+) CCAGGG/TTGCCC 1 -- ds50018Minor allele frequency- T:0.06NA NS EA 680
    rs1478130981,2
    --53034498(+) GGGTGA/CCCTAC 1 -- ds50010--------
    rs1397700541,2
    --53034506(+) TACAAC/TGGACA 1 -- ds50010--------
    rs1901827041,2
    --53034567(+) GGCAAC/TCTTCA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for KRT4 (53200327 - 53208335 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KRT4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv832416CNV Loss17160897
    nsv470293CNV Loss18288195

    Human Gene Mutation Database (HGMD): KRT4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT4
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT4

    (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: 123940   
    OMIM disorders: 193900  
    UniProtKB/Swiss-Prot: K2C4_HUMAN, P19013
  • White sponge nevus of Cannon (WSN) [MIM:193900]: Rare autosomal dominant disorder which predominantly
    affects non-cornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft,
    white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial
    thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less
    frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. Note=The disease is
    caused by mutations affecting the gene represented in this entry

  • Selected diseases for KRT4 (see all 39):    About MalaCards
    hereditary mucosal leukokeratosis    white sponge nevus of cannon, krt4-related    leukoplakia    hymenolepiasis
    basaloid squamous cell carcinoma    cloacogenic carcinoma    esophagitis    mucinous adenocarcinoma
    pterygium    oral lichen planus    epidermodysplasia verruciformis    oral squamous cell carcinoma
    lichen planus    oral leukoplakia    squamous cell carcinoma of the head and neck    cervical intraepithelial neoplasia
    vaginitis    cholesteatoma    barrett's esophagus    squamous cell carcinoma

    3 diseases from the University of Copenhagen DISEASES database for KRT4:
    Hereditary mucosal leukokeratosis     Hymenolepiasis     Carcinoma

    KRT4 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for KRT4 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metaplasia 58.6 3 1690513 (1), 8857642 (1), 11374671 (1)
    nevi 51.3 2 16858417 (2)
    carcinoma squamous cell 47.6 8 9930073 (2), 8857642 (2), 15975524 (1), 1379783 (1) (see all 6)
    adenocarcinoma 30.1 5 9930073 (2), 12680208 (1), 1696167 (1), 1379783 (1)
    hyperplasia 27 1 2038892 (1)
    dysplasia 22.4 3 20036603 (3)
    tumors 17.3 6 1372155 (1), 9176796 (1), 7524653 (1), 9390538 (1) (see all 6)
    carcinoma 15.9 3 1992770 (2), 1696167 (1)
    ovarian carcinoma 8.53 1 1992770 (1)
    adenoma 0 1 1992770 (1)


    Export disorders for KRT4 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 KRT4 gene, integrated from 10 sources (see all 136):
    (articles sorted by number of sources associating them with KRT4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. (PubMed id 10652003)1, 2, 9 Terrinoni A.... Melino G. (J. Invest. Dermatol. 2000)
    2. Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12. (PubMed id 7684424)1, 2, 9 Wanner R.... Mischke D. (J. Invest. Dermatol. 1993)
    3. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (J. Cell Biol. 2006)
    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 mutation in the keratin 4 gene causing white sponge naevus. (PubMed id 12828738)1, 2 Chao S.C.... Lee Jy J.Y. (Br. J. Dermatol. 2003)
    6. Molecular characterization and expression of the stratification- related cytokeratins 4 and 15. (PubMed id 2452170)1, 2 Leube R.E....Franke W.W. (J. Cell Biol. 1988)
    7. Transcriptional regulation of the differentiation-linked human K4 promoter is dependent upon esophageal-specific nuclear factors. (PubMed id 9727005)1, 9 Opitz O.G....Rustgi A.K. (J. Biol. Chem. 1998)
    8. Comparative analysis of the expression of cytokeratins (1, 10, 14, 16, 4), involucrin, filaggrin and e-cadherin in plane warts and epidermodysplasia verruciformis plane wart-type lesions. (PubMed id 19515043)1, 9 Barcelos A.C. and Sotto M.N. (J. Cutan. Pathol. 2009)
    9. The surface protein Srr-1 of Streptococcus agalactiae binds human keratin 4 and promotes adherence to epithelial HEp-2 cells. (PubMed id 17709412)1, 9 Samen U....Borges F. (Infect. Immun. 2007)
    10. Mutation of keratin 4 gene causing white sponge nevus in a Japanese family. (PubMed id 23182699)1 Kimura M....Warnakulasuriya S. (Int J Oral Maxillofac Surg 2013)

    (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: 3851 HGNC: 6441 AceView: KRT4andHUMCYT2AandKRT3andK5BandKRT6L Ensembl:ENSG00000170477 euGenes: HUgn3851
    ECgene: KRT4 H-InvDB: KRT4

    (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 KRT4 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=KRT4[genesymbol]

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KRT4 gene:
    Search GeneIP for patents involving KRT4

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



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