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

KRT4 Gene

protein-coding   GIFtS: 59
GCID: GC12M053200

keratin 4


(Previous symbol: CYK4)
 Explore 39 diseases affiliated with
KRT4 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KRT4    

Aliases
for KRT4 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Keratin 41 2     CK-42 3
CYK41 2 3 5     Cytokeratin 42
K41 2 3     Keratin, Type II Cytoskeletal 42
CK41 2     Cytokeratin-43
Type-II Keratin Kb42 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


Summaries
for KRT4 gene

(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 KRT4:
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)

Gene Wiki entry for KRT4 (Keratin 4)


Genomic Views
for KRT4 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for KRT4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 53,200,333 bp from pter      End:
 53,208,335 bp from pter
Size:
 8,003 bases      Orientation:
 minus strand

Proteins
for KRT4 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P19013

    • KRT4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: KRT4
    OriGene Custom Protein Services for KRT4 
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    Novus Biologicals KRT4 Proteins
    Novus Biologicals KRT4 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for KRT4

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

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


    KRT4 for ontologies           About GeneDecksing



    KRT4 Antibody Products: 
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    Uscn ELISAs and CLIAs for KRT4

    Protein Domains /
    Families
    for KRT4 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KRT4 for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P19013

    ProtoNet protein and cluster: P19013

    3 Blocks protein families:
    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


    Function
    for KRT4 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:
         Genatlas biochemistry entry for KRT4:
    keratin 4,type II,non cornifying mucosal epithelia (buccal,nasal,esophageal,anogenital)

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT4
    1 QIAGEN miScript miRNA Assays for microRNA that regulate KRT4:
    hsa-miR-4323
    SwitchGear 3'UTR luciferase reporter plasmid: KRT4 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KRT4 (see all 7)
    OriGene shRNA RFP: KRT4
    OriGene siRNA: KRT4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT4

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for KRT4

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT4 (see all 3)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT4 

    Cell Line
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    Search LifeMap BioReagents cell lines for KRT4

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT4

    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--


    KRT4 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for KRT4:
     Decreased viability with pacli 

    Animal Models:
         Mouse knock-out Krt4tm1Rak for KRT4
         7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Krt4):
     craniofacial  digestive/alimentary  growth/size  integument  mortality/aging 
     pigmentation  vision/eye 

    KRT4 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for KRT4 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytoskeleton remodeling Keratin filaments
    		Cytoskeleton remodeling Keratin filaments1.00
    		Cytoskeleton remodeling_Keratin filaments0.91
    2Cytoskeletal Signaling
    		Cytoskeletal Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for KRT4
        Cytoskeleton remodeling Keratin filaments


    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KRT4

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

    5/21 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 (GO ID links to tree view):    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



    Drugs & Compounds
    for KRT4 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KRT4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KRT4
    5 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about KRT4 / K2C4 

    Transcripts
    for KRT4 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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:             		 OriGene 3'-UTR Clone: KRT4
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT4
    1 QIAGEN miScript miRNA Assays for microRNA that regulate KRT4:
    hsa-miR-4323
    SwitchGear 3'UTR luciferase reporter plasmid: KRT4 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KRT4 (see all 7)
    OriGene shRNA RFP: KRT4
    OriGene siRNA: KRT4
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT4
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT4 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT4 (see all 2)
    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 genome-wide validated SYBR primer pairs in human, mouse, rat for KRT4
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KRT4
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT4
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT4

    Additional cDNA 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 

    24/47 DOTS entries (see all 47):

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

    24/251 AceView cDNA sequences (see all 251):

    AA629199 BM715509 BE735977 BG741384 AJ564105 BQ027522 BP371899 BE742142 
    BM697307 BC039148 AK130156 BF830977 AW265613 C00570 AU077018 AW082111 
    NM_175834 BG673974 BE735578 BP373464 AA780162 BG743456 BQ352789 BG742537 

    GeneLoc Exon Structure

    5/6 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

    Expression
    for KRT4 gene

    (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

    KRT4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GGCAGAGAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    KRT4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageLumbar Intervertebral DiscIntervertebral Disc Nucleus Pulposus CellsCartilage
    Primitive StreakNotochordPrimitive Streak
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See KRT4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT4

    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

        SABiosciences Custom PCR Arrays for KRT4
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT4

    Orthologs
    for KRT4 gene

    (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 animals.

    Orthologs for KRT4 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves KRT41 keratin 4 69.87(n)
    68.8(a)    		   768882  XM_001231585.2  XP_001231586.2 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 3)    		 --
    55(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 AAWZ02039762(4434-6932)
    2(95689880-95702695)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1369306
    wu:fb15e046
    (see all 3)    		 wu:fb15e04
    (see all 3)    		 22(a)
    19(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 2(32498013-32508762)
    21(24464941-24474821)
    worm
    (Caenorhabditis elegans)    		 Secernentea ifp-16
    ifc-26
    (see all 12)    		 Intermediate filament protein ifc-2
    (see all 12)    		 7(a)
    5(a)
    (see all 12)    		 possible ortholog
    possible ortholog
    (see all 12)    		 X(9675786-9680111)
    X(642160-654902)


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

    Paralogs
    for KRT4 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT4 gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT862  KRT32  KRT842  
    KRT82  KRT812  KRT712  KRT8P112  KRT782  KRT72  ENSG000001704422  KRT792  
    KRT722  KRT732  KRT52  KRT6C2  KRT6A2  KRT852  KRT22  KRT752  
    KRT12  KRT822  
    18/54 SIMAP similar genes for KRT4 using alignment to 5 protein entries:     K2C4_HUMAN (see all proteins) (see all similar genes):
    NEFM    KRTHB6    KRT5    KRT1B    KRT6B    KRT7
    KRT6C    KRT6A    KRT3    KRT121P    KRT72    KRT77
    KRT79    KRT78    KRT1    KRT71    KRT74    KRT8

    KRT4 for paralogs           About GeneDecksing



    Genomic Variants
    for KRT4 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

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


    10/233 NCBI SNPs in KRT4 are shown (see all 233)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs20358791,2
    		C,F,O,A,H,untested53200584(+) CTCTGC/TCCATG 1 -- ut31 ese330Minor allele frequency- T:0.19MN NS EA NA WA CSA 2757
    rs1114024051,2
    		C,--50243965(+) CCCCCC/AACCTG 1 -- ds50012Minor allele frequency- A:0.05CSA WA 120
    rs749594051,2
    		F,--50244014(+) CAGCAT/CTGAAA 1 -- ds50011Minor allele frequency- C:0.14WA 118
    rs769227641,2
    		C,F,--50244223(+) CGCAAG/ACATAC 1 -- ds50011Minor allele frequency- A:0.14WA 118
    rs111702811,2
    		H,--50244253(+) AGTTAT/CACAGG 1 -- ds50014Minor allele frequency- C:0.00NS EA 416
    rs782827271,2
    		C,--50244690(+) AGAGAG/ACCCAT 1 -- ut312Minor allele frequency- A:0.05CSA WA 120
    rs733061811,2
    		C,--50246232(+) CCATTC/TTCAAG 1 -- int12Minor allele frequency- T:0.08WA 120
    rs733061831,2
    		C,--50246314(+) ACCAAC/TGATGC 1 -- int12Minor allele frequency- T:0.06WA 120
    rs772319621,2
    		F,--50246829(+) GTGCCG/AGTGTG 1 -- int11Minor allele frequency- A:0.15WA 118
    rs791732581,2
    		--50246940(+) CTAAGA/TCCAAG 1 -- int11Minor allele frequency- T:0.01NA 120

    HapMap Linkage Disequilibrium report for KRT4 (53200333 - 53208335 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for KRT4: --
    Human Gene Mutation Database (HGMD): KRT4

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRT4
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT4

    Disorders / Diseases
    for KRT4 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KRT4 for disorders           About GeneDecksing

    OMIM gene information: 123940   
    OMIM disorders: 193900  
    UniProtKB/Swiss-Prot: K2C4_HUMAN, P19013
  • Defects in KRT4 are a cause of white sponge nevus of cannon (WSN) [MIM:193900]. WSN is a 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

    20/39 diseases for KRT4 (see all 39):    About MalaCards
    nevus    leukoplakia    esophagitis    hereditary mucosal leukokeratosis
    lichen planus    squamous cell carcinoma    oral lichen planus    basaloid squamous cell carcinoma
    cervical intraepithelial neoplasia    hymenolepiasis    cloacogenic carcinoma    barrett's esophagus
    oral squamous cell carcinoma    squamous cell carcinoma of the head and neck    esophageal squamous cell carcinoma    cleft palate
    mucinous adenocarcinoma    pterygium    ichthyosis    cholesteatoma

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

    10/11 Novoseek 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

    Publications
    for KRT4 gene

    (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 KRT4 gene, integrated from 9 sources (see all 134):
    (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. (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. (1993)
    3. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (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. (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. (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. (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. (1998)
    8. Comparative analysis of the expression of cytokeratin s (1, 10, 14, 16, 4), involucrin, filaggrin and e-cadherin in plane warts and e pidermodysplasia verruciformis plane wart-type lesions. (PubMed id 19515043)1, 9 Barcelos A.C. and Sotto M.N. (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. (2007)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    External Searches for KRT4 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing KRT4 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3851 HGNC: 6441 AceView: KRT4andHUMCYT2AandKRT3andK5BandKRT6L Ensembl:ENSG00000170477 euGenes: HUgn3851
    ECgene: KRT4 H-InvDB: KRT4

    Other Databases showing KRT4 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KRT4 gene

    (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 KRT4 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT4

    Intellectual Property
    for KRT4 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KRT4 gene:
    Search GeneIP for patents involving KRT4

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