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

KRT5 Gene

protein-coding   GIFtS: 66
GCID: GC12M052908

Keratin 5

(Previous names: epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne...)
(Previous symbol: EBS2)
  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 51 2     DDD2 5
EBS21 2     CK52
Epidermolysis Bullosa Simplex 2 Dowling-Meara/Kobner/Weber-Cockayne Types1 2     DDD12
Keratin 5 (Epidermolysis Bullosa Simplex,
Dowling-Meara/Kobner/Weber-Cockayne Types)1 2
     KRT5A2
58 KDa Cytokeratin2 3     cytokeratin-52
Type-II Keratin Kb52 3     Keratin, Type II Cytoskeletal 52
CK-52 3     Cytokeratin-53
K52 3     Keratin-53

External Ids:    HGNC: 64421   Entrez Gene: 38522   Ensembl: ENSG000001860817   OMIM: 1480405   UniProtKB: P136473   

Export aliases for KRT5 gene to outside databases

Previous GC identifers: GC12M052976 GC12M052938 GC12M052625 GC12M051194 GC12M049953


(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 KRT5 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 the basal
layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of
diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome
12q12-q13. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRT5 Gene: 
KRT5 (keratin 5) is a protein-coding gene. Diseases associated with KRT5 include epidermolysis bullosa simplex, and epidermolysis bullosa simplex with mottled pigmentation, and among its related super-pathways are Cell-cell junction organization and Cytoskeleton remodeling Keratin filaments. GO annotations related to this gene include scaffold protein binding and structural constituent of cytoskeleton. An important paralog of this gene is KRT74.

Gene Wiki entry for KRT5 (Keratin 5) 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NT_029419.12  NC_018923.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRT5 gene promoter:
         AP-1   p53   COMP1   NRSF form 1   ATF-2   c-Jun   NRSF form 2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT5 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRT5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT5


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

KRT5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT5 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M052908:  view genomic region     (about GC identifiers)

Start:
52,908,359 bp from pter      End:
52,914,471 bp from pter
Size:
6,113 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: K2C5_HUMAN, P13647 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 5  
Size: 590 amino acids; 62378 Da
Subunit: Heterotetramer of two type I and two type II keratins. Keratin-5 associates with keratin-14. Interacts
with TCHP
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II
(neutral to basic; 56-70 kDa)
1 PDB 3D structure from and Proteopedia for KRT5:
3TNU (3D)    
Secondary accessions: Q6PI71 Q6UBJ0 Q8TA91

Explore the universe of human proteins at neXtProt for KRT5: NX_P13647

Explore proteomics data for KRT5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P13647

  • KRT5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRT5 Protein Expression
    REFSEQ proteins: NP_000415.2  
    ENSEMBL proteins: 
     ENSP00000252242   ENSP00000448767   ENSP00000449783   ENSP00000447209   ENSP00000448041  
     ENSP00000449651  
    Reactome Protein details: P13647
    Human Recombinant Protein Products for KRT5: 
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    Novus Biologicals KRT5 Protein
    Novus Biologicals KRT5 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for KRT5 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005829cytosol TAS--
    GO:0005882intermediate filament IDA10852826
    GO:0005886plasma membrane IEA--

    KRT5 for ontologies           About GeneDecksing



    KRT5 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of KRT5
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    Abcam antibodies for KRT5
    Cloud-Clone Corp. Antibodies for KRT5 
    ThermoFisher Antibody for KRT5
    LSBio Antibodies in human, mouse, rat for KRT5 

    Assay Products for KRT5: 
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    Cloud-Clone Corp. CLIAs for KRT5


    (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 P13647

    ProtoNet protein and cluster: P13647

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


    UniProtKB/Swiss-Prot: K2C5_HUMAN, P13647
    Similarity: Belongs to the intermediate filament family


    KRT5 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

    Molecular Function:
         Genatlas biochemistry entry for KRT5:
    keratin 5,type II,basal layer,dimerizing with KRT14

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton TAS7520042
    GO:0005515protein binding IPI10727209
    GO:0097110scaffold protein binding IPI10852826
         
    KRT5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT5:
     Decreased nuclei size in G2M 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Krt5):
     behavior/neurological  craniofacial  digestive/alimentary  integument  limbs/digits/tail 
     mortality/aging  no phenotypic analysis 

    KRT5 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Krt5tm1Tmm for KRT5

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KRT5 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KRT5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT5 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KRT5 

    miRNA
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    miRTarBase miRNAs that target KRT5:
    hsa-mir-196a (MIRT000221)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT5
    5 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT5:
    hsa-miR-3163 hsa-miR-2052 hsa-miR-656 hsa-miR-127-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidKRT5 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT5


    (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 KRT5 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cell-cell junction organization
    Cell junction organization0.69
    Cell-Cell communication0.64
    2Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments0.91
    3Type I hemidesmosome assembly
    Type I hemidesmosome assembly
    4Glucocorticoid receptor regulatory network
    Glucocorticoid receptor regulatory network
    5Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KRT5
        Cytoskeleton remodeling Keratin filaments


    1 Cell Signaling Technology (CST) Pathway for KRT5
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for KRT5
        Cytoskeleton remodeling Keratin filaments

    1 BioSystems Pathway for KRT5
        Glucocorticoid receptor regulatory network


    3        Reactome Pathways for KRT5
        Type I hemidesmosome assembly
    Cell junction organization
    Cell-Cell communication



    KRT5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KRT5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/86 Interacting proteins for KRT5 (P136471, 3 ENSP000002522424) via UniProtKB, MINT, STRING, and/or I2D (see all 86)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ALOX12P180541, 3, ENSP000002515354EBI-702187,EBI-1633210 I2D: score=6 STRING: ENSP00000251535
    APCP250543, ENSP000002574304I2D: score=3 STRING: ENSP00000257430
    KRT18P057833, ENSP000003734874I2D: score=2 STRING: ENSP00000373487
    PKP2Q999593, ENSP000000708464I2D: score=2 STRING: ENSP00000070846
    BTKQ061873, ENSP000003081764I2D: score=1 STRING: ENSP00000308176
    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:0008544epidermis development TAS7520042
    GO:0031581hemidesmosome assembly TAS--
    GO:0034329cell junction assembly TAS--

    KRT5 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

    KRT5 for compounds           About GeneDecksing

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

    Browse Tocris compounds for KRT5 (K2C5)

    10/29 Novoseek inferred chemical compound relationships for KRT5 gene (see all 29)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kalinin 70.2 1 7530560 (1)
    estrogen 42.3 24 19675450 (2), 17214855 (1), 19221640 (1), 18752048 (1) (see all 13)
    retinoid 41 1 7682522 (1)
    retinoic acid 36.8 6 7505782 (3), 1284070 (1), 12890214 (1)
    acitretin 27.2 2 1373746 (2)
    calcipotriol 26.3 2 1373949 (2)
    progesterone 24.1 15 16241993 (1), 19221640 (1), 19567831 (1), 16266999 (1) (see all 11)
    paraffin 20.2 1 19514352 (1)
    valine 19.2 1 9740251 (1)
    asparagine 17.5 2 15102078 (1), 7534039 (1)

    Search CenterWatch for drugs/clinical trials and news about KRT5 / K2C5

    (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 KRT5 gene: 
    NM_000424.3  

    Unigene Cluster for KRT5:

    Keratin 5
    Hs.433845  [show with all ESTs]
    Unigene Representative Sequence: M21389
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252242(uc001san.3) ENST00000552952 ENST00000549511 ENST00000548409
    ENST00000552629(uc009zmh.3) ENST00000547890 ENST00000551013 ENST00000551188
    ENST00000549420 ENST00000551275 ENST00000546577
    miRNA
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    5 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT5:
    hsa-miR-3163 hsa-miR-2052 hsa-miR-656 hsa-miR-127-5p hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidKRT5 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT5

    Additional mRNA sequence: 

    AK093720.1 AK296823.1 AK303972.1 AK310827.1 AY373434.1 BC024292.1 BC042132.1 BC071906.1 
    M19723.1 M21389.1 

    24/89 DOTS entries (see all 89):

    DT.95147644  DT.97861421  DT.92470157  DT.91647885  DT.97845743  DT.121119205  DT.92049484  DT.95214039 
    DT.95174976  DT.97845772  DT.121118495  DT.121118296  DT.92470136  DT.92408071  DT.100805796  DT.121118151 
    DT.121118662  DT.121118114  DT.121118882  DT.121118281  DT.121118676  DT.121118613  DT.95147651  DT.100805805 

    24/404 AceView cDNA sequences (see all 404):

    AA583975 BF915078 BT006899 BF914819 AW366724 BF838929 CR612432 BQ378588 
    BF831594 AA586890 BQ330386 BC008807 BF873253 AW243951 AW946461 BQ350594 
    AX748277 BF915071 AW366728 BF149187 AK093720 BF876882 BE140567 AW366699 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for KRT5 (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11
    SP1:                                                                    -                       -               
    SP2:                                                                    -                                       
    SP3:                                                                                                            
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for KRT5

    (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

    KRT5 expression in normal human tissues (normalized intensities)      KRT5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCCTGCTG
    KRT5 Expression
    About this image


    KRT5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/26 selected tissues (see all 26) fully expand
     
     Lung (Respiratory System)    fully expand to see all 12 entries
             Basal Cells Respiratory Bronchioles
             Mature airway epithelial cells ( Directed differentiation of human embryonic stem...
             bronchus ; respiratory epithelial cells   
             Trachea   
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Hair
             Primary Hair Placode Cells Hair Follicle
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 4 entries
             Human Oral Keritinocytes (HOK)   
             Tongue   
     
     Epidermis (Integumentary System)    fully expand to see all 4 entries
             Basal Keratinocytes Embryonic Epidermis
             Human EpiDermal Keratinocytes (HEK)   

    See KRT5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT5

    SOURCE GeneReport for Unigene cluster: Hs.433845
        SABiosciences Expression via Pathway-Focused PCR Arrays including KRT5: 
              Lung Cancer in human mouse rat
              Cell Surface Markers in human mouse rat
              Breast Cancer in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT5

    (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 KRT5 gene from 2/6 species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt51 , 5 keratin 51, 5 87.07(n)1
    90.17(a)1
      15 (56.98 cM)5
    1103081  NM_027011.21  NP_081287.11 
     1017070705 
    chicken
    (Gallus gallus)
    Aves KRT51 keratin 5 74(n)
    76.06(a)
      407779  NM_001001195.1  NP_001001195.1 


    ENSEMBL Gene Tree for KRT5 (if available)
    TreeFam Gene Tree for KRT5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT5 gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT32  KRT842  KRT862  
    KRT82  KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT6C2  
    KRT6A2  KRT852  KRT22  KRT752  KRT12  KRT822  KRT42  
    18/65 SIMAP similar genes for KRT5 using alignment to 7 protein entries:     K2C5_HUMAN (see all proteins) (see all similar genes):
    KRT6A    KRT6C    KRT1B    KRT6B    KRT75    KRT7
    KRT4    KRT72    KRT71    KRT77    KRT79    KRT3
    KRT121P    KRTHB6    KRT1    KRT8    KRT74    KRT73

    KRT5 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for KRT5
    PGOHUM00000261132 PGOHUM00000261133


    (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

    10/507 SNPs in KRT5 are shown (see all 507)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0265444
    Epidermolysis bullosa simplex, Koebner type (K-EBS)4--see VAR_0265442 E K mis40--------
    VAR_0265434
    Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4--see VAR_0265432 D G mis40--------
    VAR_0316454
    Epidermolysis bullosa simplex, Koebner type (K-EBS)4--see VAR_0316452 G D mis40--------
    VAR_0038764
    Epidermolysis bullosa simplex, Koebner type (K-EBS)4--see VAR_0038762 L P mis40--------
    VAR_0104664
    Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)4--see VAR_0104662 I T mis40--------
    VAR_0277254
    Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4--see VAR_0277252 R H mis40--------
    VAR_0038774
    Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)4--see VAR_0038772 E G mis40--------
    VAR_0104624
    Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4--see VAR_0104622 M K mis40--------
    VAR_0237274
    Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS)4--see VAR_0237272 A D mis40--------
    VAR_0237284
    Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS)4--see VAR_0237282 E K mis40--------

    HapMap Linkage Disequilibrium report for KRT5 (52908359 - 52914471 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for KRT5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv709CNV Insertion18451855
    nsv832412CNV Loss17160897


    Human Gene Mutation Database (HGMD): KRT5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT5
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT5

    (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.)
    About This Section
    OMIM gene information: 148040   
    OMIM disorders: 131760  131900  131800  131960  179850  609352  
    UniProtKB/Swiss-Prot: K2C5_HUMAN, P13647
  • Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]: A severe form of intraepidermal
    epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and
    mucous membrane involvement. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Epidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE) [MIM:609352]: A form of
    intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear
    from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal
    with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS,
    with no evidence of tonofilament clumping. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]: A form of intraepidermal
    epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis
    bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the
    Dowling-Meara type, although it is less severe. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS) [MIM:131960]: A form of intraepidermal
    epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and
    proximal extremities with hyper- and hypopigmentation macules. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Dowling-Degos disease (DDD) [MIM:179850]: Autosomal dominant genodermatosis. Affected individuals develop
    a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark
    brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the
    hair or nails. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/63 diseases for KRT5 (see all 63):    About MalaCards
    epidermolysis bullosa simplex    epidermolysis bullosa simplex with mottled pigmentation    degos disease    dowling-degos disease
    vulvar intraepithelial neoplasia    epidermolysis bullosa simplex with migratory circinate erythema    hidradenocarcinoma    ceruminoma
    epidermolysis bullosa    bladder squamous cell carcinoma    epidermolysis bullosa simplex, dowling-meara type    ichthyosis hystrix, curth macklin type
    epidermolysis bullosa simplex, localized    epidermolysis bullosa simplex, other generalized    exfoliative ichthyosis    pachyonychia congenita type 2
    benign mesothelioma    primary cutaneous amyloidosis    pachyonychia congenita    congenital ichthyosiform erythroderma

    7 diseases from the University of Copenhagen DISEASES database for KRT5:
    Epidermolysis bullosa simplex     Carcinoma     Benign mesothelioma     Breast cancer
    Malignant mesothelioma     Ductal carcinoma in situ     Papilloma

    KRT5 for disorders           About GeneDecksing

    10/46 Novoseek inferred disease relationships for KRT5 gene (see all 46)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    epidermolysis bullosa simplex 97.2 90 12655565 (3), 12648226 (3), 15347343 (3), 10782015 (2) (see all 60)
    ebs-mp 91.9 4 10494094 (1), 8799157 (1), 16581562 (1), 15982306 (1)
    epidermolysis bullosa 77 3 8435522 (1), 7537032 (1), 19691749 (1)
    ichthyosis 61.1 2 16417221 (1)
    keratoderma palmoplantar 60.3 2 16417221 (1)
    skin diseases 58.4 6 9989794 (1), 12655565 (1), 17039244 (1), 20030639 (1)
    hyperkeratosis 56.8 1 11407989 (1)
    bullous congenital ichthyosiform erythroderma 54.9 1 10903910 (1)
    breast carcinoma 51.9 10 16241993 (2), 16938528 (1), 17123107 (1), 20049202 (1) (see all 7)
    carcinoma 50.1 15 16846983 (2), 1379783 (2), 19536621 (2), 15494931 (1) (see all 10)

    GeneTests: KRT5
    GeneReviews: KRT5
    Genetic Association Database (GAD): KRT5
    Human Genome Epidemiology (HuGE) Navigator: KRT5 (5 documents)

    Export disorders for KRT5 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 KRT5 gene, integrated from 9 sources (see all 407):
    (articles sorted by number of sources associating them with KRT5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. (PubMed id 12925204)1, 2, 4, 9 Gu L.-H.... Kitajima Y. (2003)
    2. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. (PubMed id 12655565)1, 2, 9 Schuilenga-Hut P.H.L.... Scheffer H. (2003)
    3. K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber- Cockayne). (PubMed id 10782015)1, 2, 9 Liovic M.... Komel R. (2000)
    4. A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype. (PubMed id 15140024)1, 2, 9 Liovic M.... Komel R. (2004)
    5. A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. (PubMed id 15347343)1, 2, 9 Li J.-G.... Peng Z.-H. (2004)
    6. Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. (PubMed id 9989794)1, 2, 9 Soerensen C.B.... Gregersen N. (1999)
    7. A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex. (PubMed id 9740251)1, 2, 9 Galligan P.... Rothnagel J.A. (1998)
    8. Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. (PubMed id 9036937)1, 2, 9 Stephens K.... Sybert V.P. (1997)
    9. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. (PubMed id 8799157)1, 2, 9 Uttam J.... Fuchs E. (1996)
    10. Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (PubMed id 16882168)1, 2, 9 Yasukawa K....Shimizu H. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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)
    About This Section
    Entrez Gene: 3852 HGNC: 6442 AceView: KRT5 Ensembl:ENSG00000186081 euGenes: HUgn3852
    ECgene: KRT5 H-InvDB: KRT5

    (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 KRT5 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT5

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KRT5 gene:
    Search GeneIP for patents involving KRT5

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



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    About This Section

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