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

KRT8 Gene

protein-coding   GIFtS: 67
GCID: GC12M053290

Keratin 8

Microbiology & Infectious Diseases Congress
  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 81 2     K2C82
Type-II Keratin Kb82 3     KO2
CK-82 3     Cytokeratin 82
CYK82 3     cytokeratin-82
K82 3     Keratin, Type II Cytoskeletal 82
CARD22     Cytokeratin-83
CK82     Keratin-83

External Ids:    HGNC: 64461   Entrez Gene: 38562   Ensembl: ENSG000001704217   OMIM: 1480605   UniProtKB: P057873   

Export aliases for KRT8 gene to outside databases

Previous GC identifers: GC12P053389 GC12P053619 GC12M053007 GC12M051577 GC12M050334


(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 KRT8 Gene:
This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II
keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product
of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered
epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in
signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis.
Alternatively spliced transcript variants have been found for this gene. (provided by RefSeq, Jan 2012)

GeneCards Summary for KRT8 Gene: 
KRT8 (keratin 8) is a protein-coding gene. Diseases associated with KRT8 include calcifying epithelial odontogenic tumor, and proliferating trichilemmal cyst, and among its related super-pathways are Cytoskeleton remodeling Keratin filaments. GO annotations related to this gene include scaffold protein binding and structural molecule activity. An important paralog of this gene is KRT74.

UniProtKB/Swiss-Prot: K2C8_HUMAN, P05787
Function: Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated
muscle

Gene Wiki entry for KRT8 (Keratin 8) 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  NC_018923.2  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRT8 gene promoter:
         COUP-TF1   AP-1   COUP   Nkx2-5   HNF-4alpha2   C/EBPalpha   HNF-4alpha1   PPAR-gamma1   COUP-TF   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT8 promoter sequence
   Search SABiosciences Chromatin IP Primers for KRT8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT8


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

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

KRT8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT8 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M053290:  view genomic region     (about GC identifiers)

Start:
53,290,971 bp from pter      End:
53,343,738 bp from pter
Size:
52,768 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: K2C8_HUMAN, P05787 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 8  
Size: 483 amino acids; 53704 Da
Subunit: Heterotetramer of two type I and two type II keratins. KRT8 associates with KRT18. Associates with KRT20.
Interacts with HCV core protein and PNN. When associated with KRT19, interacts with DMD. Interacts with TCHP.
Interacts with APEX1
Subcellular location: Cytoplasm. Nucleus, nucleoplasm (By similarity). Nucleus matrix (By similarity)
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: A8K4H3 B0AZN5 F8VXB4 Q14099 Q14716 Q14717 Q53GJ0 Q6DHW5 Q6GMY0 Q6P4C7
Q96J60
Alternative splicing: 2 isoforms:  P05787-1   P05787-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for KRT8: NX_P05787

Explore proteomics data for KRT8 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation on serine residues is enhanced during EGF stimulation and mitosis. Ser-74 phosphorylation plays an
    important role in keratin filament reorganization
  • UniProtKB: O-glycosylated. O-GlcNAcylation at multiple sites increases solubility, and decreases stability by inducing
    proteasomal degradation
  • UniProtKB: O-glycosylated (O-GlcNAcylated), in a cell cycle-dependent manner
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05787

  • KRT8 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRT8 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001243211.1  NP_001243222.1  NP_002264.1  

    ENSEMBL proteins: 
     ENSP00000447566   ENSP00000293308   ENSP00000447402   ENSP00000449404   ENSP00000447881  
     ENSP00000449010   ENSP00000447040   ENSP00000450340   ENSP00000448681   ENSP00000450228  

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    Cloud-Clone Corp. Proteins for KRT8 

    Gene Ontology (GO): 5/10 cellular component terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005654nucleoplasm IEA--
    GO:0005737cytoplasm IDA19188445
    GO:0005882intermediate filament NAS--
    GO:0016010dystrophin-associated glycoprotein complex IEA--
    GO:0016363nuclear matrix IEA--

    KRT8 for ontologies           About GeneDecksing



    KRT8 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IFF2: Intermediate filaments type II, keratins (basic)

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

    Graphical View of Domain Structure for InterPro Entry P05787

    ProtoNet protein and cluster: P05787

    4 Blocks protein domains:
    IPB000873 AMP-binding signature
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature
    IPB003054 Type II keratin signature


    UniProtKB/Swiss-Prot: K2C8_HUMAN, P05787
    Similarity: Belongs to the intermediate filament family


    KRT8 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:

         UniProtKB/Swiss-Prot Summary: K2C8_HUMAN, P05787
    Function: Together with KRT19, helps to link the contractile apparatus to dystrophin at the costameres of striated
    muscle

         Genatlas biochemistry entry for KRT8:
    keratin 8,type II,early embryonic,dimerizing with KRT18

         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 NAS--
    GO:0005515protein binding IPI10954706
    GO:0032403protein complex binding IEA--
    GO:0097110scaffold protein binding IPI10852826
         
    KRT8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT8:
     Increased S DNA content 

         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Krt8):
     cardiovascular system  digestive/alimentary  embryogenesis  growth/size  hematopoietic system 
     immune system  liver/biliary system  mortality/aging  reproductive system 

    KRT8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Krt8tm1Rgo for KRT8

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KRT8 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KRT8

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT8 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KRT8 

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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT8


    (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 KRT8 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cytoskeleton remodeling Keratin filaments
    Cytoskeleton remodeling Keratin filaments0.91
    2Signaling mediated by p38-alpha and p38-beta
    Signaling mediated by p38-alpha and p38-beta
    3EGFR1 Signaling Pathway
    EGFR1 Signaling Pathway
    4Cytoskeletal Signaling
    Cytoskeletal Signaling

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KRT8
        Cytoskeleton remodeling Keratin filaments


    1 Cell Signaling Technology (CST) Pathway for KRT8
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for KRT8
        Cytoskeleton remodeling Keratin filaments

    2 BioSystems Pathways for KRT8
        EGFR1 Signaling Pathway
    Signaling mediated by p38-alpha and p38-beta




    KRT8 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KRT8

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

    5/138 Interacting proteins for KRT8 (P057871, 2, 3 ENSP000002933084) via UniProtKB, MINT, STRING, and/or I2D (see all 138)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KRT18P057831, 2, 3, ENSP000003734874EBI-297852,EBI-297888 MINT-7899812 I2D: score=3 STRING: ENSP00000373487
    KRT17Q046952, 3, ENSP000003084524MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000308452
    TJP1Q071572, 3, ENSP000002815374MINT-2984733 I2D: score=3 STRING: ENSP00000281537
    YWHAQP273482, 3, ENSP000002380814MINT-7899812 MINT-7900157 I2D: score=1 STRING: ENSP00000238081
    GRB2P629931, 2, 3, ENSP000003390074EBI-297852,EBI-401755 MINT-61555 I2D: score=4 STRING: ENSP00000339007
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006915apoptotic process IEA--
    GO:0007010cytoskeleton organization NAS--
    GO:0019048modulation by virus of host morphology or physiology IEA--
    GO:0033209tumor necrosis factor-mediated signaling pathway IEA--
    GO:0045214sarcomere organization IEA--

    KRT8 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

    KRT8 for compounds           About GeneDecksing

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

    Browse Tocris compounds for KRT8 (K2C8)

    1 DrugBank Compound for KRT8    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Tenecteplaset- PA (see all 4)191588-94-0target--9988531 8760360 8810346

    10/54 Novoseek inferred chemical compound relationships for KRT8 gene (see all 54)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    griseofulvin 58.2 1 18603402 (1)
    diethyl dithiocarbamate 43.4 2 16365160 (1), 18603402 (1)
    n-acetylglucosamine 37 6 1371281 (3), 16825119 (1), 7510249 (1)
    paraffin 31.7 1 16365828 (1)
    matrigel 30.2 2 17299793 (1), 11506501 (1)
    estrogen 28.5 11 8913869 (2), 18715613 (1), 20340005 (1), 7544088 (1) (see all 7)
    hematoxylin 28.4 5 18305433 (1), 11041235 (1), 18626977 (1), 10193935 (1)
    progesterone 26.8 8 18715613 (1), 20340005 (1), 7544088 (1), 15010880 (1) (see all 6)
    retinoic acid 26.5 16 1691021 (2), 8708944 (1), 8641545 (1), 8647816 (1) (see all 7)
    okadaic acid 25.9 4 16343483 (1), 7540986 (1), 11788583 (1)

    Search CenterWatch for drugs/clinical trials and news about KRT8 / K2C8

    (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 KRT8 gene (3 alternative transcripts): 
    NM_001256282.1  NM_001256293.1  NM_002273.3  

    Unigene Cluster for KRT8:

    Keratin 8
    Hs.533782  [show with all ESTs]
    Unigene Representative Sequence: NR_045962
    18 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000552551(uc009zmk.1 uc009zml.1 uc009zmm.1) ENST00000293308(uc001sbd.2)
    ENST00000546583 ENST00000550170 ENST00000546897 ENST00000552150 ENST00000547031
    ENST00000549176 ENST00000546826 ENST00000547176 ENST00000548998 ENST00000546900
    ENST00000547413 ENST00000546542 ENST00000549198 ENST00000552877 ENST00000551318
    ENST00000546921
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AK222941.1 AK290938.1 AK310257.1 AK315826.1 BC000654.2 BC008200.1 BC011373.1 BC063513.1 
    BC073760.1 BC075839.1 D28446.1 M34225.1 M77025.1 NR_045962.1 U76549.1 X12882.1 
    X74929.1 X98614.1 Z36777.1 

    24/156 DOTS entries (see all 156):

    DT.95363496  DT.91723246  DT.453659  DT.91776011  DT.91776017  DT.100856806  DT.100699511  DT.97848181 
    DT.100850363  DT.100872833  DT.95070270  DT.100765608  DT.91652435  DT.100852320  DT.121118086  DT.92033258 
    DT.100870033  DT.91677886  DT.91998325  DT.100699527  DT.91896377  DT.95333919  DT.92064411  DT.100868211 

    24/120 AceView cDNA sequences (see all 120):

    CR603149 CR596245 CR625626 CR611526 CR618193 CR599548 CR619053 CR620850 
    CR619675 CR595443 CR605969 CR602669 CR595521 CR597872 CR591891 CR622722 
    CR600505 CR598939 CR610938 CR615013 CR619074 BC008200 CR626602 CR620101 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KRT8 expression in normal human tissues (normalized intensities)      KRT8 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCCAGCTA
    KRT8 Expression
    About this image


    KRT8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/41 selected tissues (see all 41) fully expand
     
     Kidney (Urinary System)    fully expand to see all 8 entries
             Renal Collecting Duct System
             Tubular cell-enriched subpopulation of renal cells
             kidney ; cells in tubules   
     
     Epithelium
             Human Pulmonary Alveolar Epithelial Cells (HPAEpiC)   
     
     Liver (Hepatobiliary System)    fully expand to see all 5 entries
             Hepatocytes Liver Lobule
             Immature hepatocytes ( Functional, immature hepatocyte differentiation from human...
             Human Hepatocyte (HH)   
     
     Intestine
             small intestine ; glandular cells   
             small intestine   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Intervertebral Disc Nucleus Pulposus Cells Sacral Intervertebral Disc

    See KRT8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT8

    SOURCE GeneReport for Unigene cluster: Hs.533782

    UniProtKB/Swiss-Prot: K2C8_HUMAN, P05787
    Tissue specificity: Observed in muscle fibers accumulating in the costameres of myoplasm at the sarcolemma
    membrane in structures that contain dystrophin and spectrin. Expressed in gingival mucosa and hard palate of the
    oral cavity

        SABiosciences Expression via Pathway-Focused PCR Arrays including KRT8: 
              Cell Surface Markers in human mouse rat
              Breast Cancer in human mouse rat
              Apoptosis 384HT in human mouse rat
              Hepatotoxicity in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT8

    (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 KRT8 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt81 , 5 keratin 81, 5 87.99(n)1
    91.67(a)1
      15 (57.20 cM)5
    166911  NM_031170.21  NP_112447.21 
     1019967115 
    chicken
    (Gallus gallus)
    Aves KRT86
    Uncharacterized protein
    76(a)
    1 → many
    LGE22C19W28_E50C23(543750-550149)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    73(a)
    1 → many
    GL343250.1(1763610-1781793)
    African clawed frog
    (Xenopus laevis)
    Amphibia krt8-prov2 keratin 8 77.71(n)    BC044116.1 
    zebrafish
    (Danio rerio)
    Actinopterygii krt42 keratin 4 80.89(n)   58021  AF134850.1 


    ENSEMBL Gene Tree for KRT8 (if available)
    TreeFam Gene Tree for KRT8 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT8 gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT32  KRT842  KRT862  
    KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT6C2  KRT52  
    KRT6A2  KRT852  KRT22  KRT752  KRT12  KRT822  KRT42  
    18/52 SIMAP similar genes for KRT8 using alignment to 8 protein entries:     K2C8_HUMAN (see all proteins) (see all similar genes):
    KRT7    KRT121P    KRT5    KRT1B    KRT72    KRT1
    KRT3    KRT2    KRTHB6    KRT4    KRT77    KRT75
    KRT81    KRT78    KRT76    KRT83    KRT85    KRT71

    KRT8 for paralogs           About GeneDecksing


    5/47 Pseudogenes.org Pseudogenes for KRT8 (see all 47)
    PGOHUM00000261079 PGOHUM00000261099 PGOHUM00000261105 PGOHUM00000261118 PGOHUM00000261120


    (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

    10/1152 SNPs in KRT8 are shown (see all 1152)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0230594
    Cirrhosis (CIRRH)4--see VAR_0230592 Y C mis40--------
    rs115544951,2,4
    C,FCirrhosis (CIRRH)4 pathogenic153132838(-) TGGGAG/TGCATC 7 G C mis1 ese33Minor allele frequency- T:0.01NS NA EU 5105
    rs577497751,2
    C,Fpathogenic153132862(-) GCGGCT/CATGGT 7 /H /Y mis12Minor allele frequency- C:0.01NS NA 3444
    rs2676076631,2
    Cuntested153125392(-) CCTGCA/GCTGCC 4 -- ut31 nc-transcript-variant0--------
    rs2676076621,2
    Cuntested153125399(-) TACCCC/TTCCTG 4 -- ut31 nc-transcript-variant0--------
    rs2019420021,2
    C,Funtested153125422(+) CTGCCG/ACAGCT 4 -- ut31 nc-transcript-variant1Minor allele frequency- A:0.01EU 575
    rs2015070311,2
    Cuntested153125490(+) ATCTTA/CTTCAC 7 K N mis10--------
    rs2676074791,2
    Cuntested153125522(-) TCAGCC/TGCACC 7 R C mis10--------
    rs585736141,2
    Cuntested153125582(-) GCCCCA/GGCCTC 7 S G mis10--------
    rs1896906621,2
    Cuntested153126635(+) CCAGGA/TCCCAG 4 -- int10--------

    HapMap Linkage Disequilibrium report for KRT8 (53290971 - 53343738 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for KRT8:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv832416CNV Loss17160897
    dgv1426n71CNV Loss21882294
    nsv819337CNV Loss19587683


    Human Gene Mutation Database (HGMD): KRT8
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT8
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT8

    (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: 148060   
    OMIM disorders: 215600  
    UniProtKB/Swiss-Prot: K2C8_HUMAN, P05787
  • Cirrhosis (CIRRH) [MIM:215600]: A liver disease characterized by severe panlobular liver-cell swelling
    with Mallory body formation, prominent pericellular fibrosis, and marked deposits of copper. Clinical features
    include abdomen swelling, jaundice and pulmonary hypertension. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 20/117 diseases for KRT8 (see all 117):    About MalaCards
    calcifying epithelial odontogenic tumor    proliferating trichilemmal cyst    idiopathic corneal edema    cirrhosis, noncryptogenic
    mammary paget's disease    hidrocystoma    brooke-spiegler syndrome    keratinizing squamous cell carcinoma
    pulmonary large cell neuroendocrine carcinoma    neuroendocrine carcinoma    spindle cell sarcoma    chondroblastoma
    craniopharyngioma    pleomorphic carcinoma    sweat gland carcinoma    cervical intraepithelial neoplasia
    hidradenitis suppurativa    hidradenitis    cervical adenocarcinoma    cervical squamous cell carcinoma

    3 diseases from the University of Copenhagen DISEASES database for KRT8:
    Carcinoma     Breast cancer     Idiopathic corneal edema

    KRT8 for disorders           About GeneDecksing

    10/97 Novoseek inferred disease relationships for KRT8 gene (see all 97)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carcinoma 63.1 69 16540085 (3), 7536188 (2), 11689350 (2), 1719006 (2) (see all 36)
    tumors 60.6 116 7544088 (3), 12367790 (3), 18603673 (2), 19845941 (2) (see all 79)
    carcinoma squamous cell 49 9 7686975 (3), 19755983 (1), 7527618 (1), 8634660 (1) (see all 7)
    breast carcinoma 48.5 8 14974217 (2), 18715613 (1), 14660278 (1), 7544088 (1) (see all 6)
    ductal breast carcinoma 48.4 6 14660278 (2), 16825119 (2), 10941333 (1)
    epithelial tumor 47.7 1 9355978 (1)
    liver diseases 47.5 28 16911694 (5), 11372009 (3), 16575832 (2), 16143128 (2) (see all 12)
    metastasis 47.4 19 9568504 (2), 18715613 (1), 14974217 (1), 10555744 (1) (see all 16)
    carcinoma ductal 46.5 3 10941333 (1), 19201736 (1)
    metaplasia 45.4 1 17652797 (1)

    Genetic Association Database (GAD): KRT8
    Human Genome Epidemiology (HuGE) Navigator: KRT8 (8 documents)

    Export disorders for KRT8 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 KRT8 gene, integrated from 9 sources (see all 711):
    (articles sorted by number of sources associating them with KRT8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Embryonic simple epithelial keratins 8 and 18: chromosomal location emphasizes difference from other keratin pairs. (PubMed id 1705144)1, 2, 3, 9 Waseem A.... Lane E.B. (1990)
    2. Cytokeratin expression in simple epithelia. III. Detection of mRNAs encoding human cytokeratins nos. 8 and 18 in normal and tumor cells by hybridization with cDNA sequences in vitro and in situ. (PubMed id 2434381)1, 2, 3 Leube R.E....Franke W.W. (1986)
    3. Phosphorylation of human keratin 8 in vivo at conserved head domain serine 23 and at epidermal growth factor-stimulated tail domain serine 431. (PubMed id 9054461)1, 2, 9 Ku N.-O. and Omary M.B. (1997)
    4. Keratin 8 phosphorylation by p38 kinase regulates cellular keratin filament reorganization: modulation by a keratin 1-like disease causing mutation. (PubMed id 11788583)1, 2, 9 Ku N.O.... Omary M.B. (2002)
    5. The intermediate filament protein keratin 8 is a novel cytoplasmic substrate for c-Jun N-terminal kinase. (PubMed id 11781324)1, 2, 9 He T.... Eriksson J.E. (2002)
    6. Characterization of the binding sites for plasminogen and tissue-type plasminogen activator in cytokeratin 8 and cytokeratin 18. (PubMed id 9988531)1, 7, 9 Kralovich K.R....Gonias S.L. (1998)
    7. Analysis of keratin polypeptides 8 and 19 variants in inflammatory bowel disease. (PubMed id 17509943)1, 4, 9 Tao G.Z....Duerr R.H. (2007)
    8. Keratins as susceptibility genes for end-stage liver disease. (PubMed id 16143128)1, 4, 9 Ku N.O....Omary M.B. (2005)
    9. Organization and sequence of the human gene encoding cytokeratin 8. (PubMed id 1691124)1, 2, 9 Krauss S. and Franke W.W. (1990)
    10. Keratin 8 and 18 mutations are risk factors for developing liver disease of multiple etiologies. (PubMed id 12724528)1, 2, 9 Ku N.-O.... Omary M.B. (2003)

    (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: 3856 HGNC: 6446 AceView: KRT8 Ensembl:ENSG00000170421 euGenes: HUgn3856
    ECgene: KRT8 H-InvDB: KRT8

    (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 KRT8 Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KRT8 gene:
    Search GeneIP for patents involving KRT8

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



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