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

KRT6A Gene

protein-coding   GIFtS: 61
GCID: GC12M052880

Keratin 6A

(Previous names: keratin 6C, keratin 6D)
(Previous symbols: KRT6C, KRT6D)
  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 6A1 2     Cytokeratin 6A2
KRT6D1 2 3     Cytokeratin 6C2
KRT6C1 2     Cytokeratin 6D2
Type-II Keratin Kb62 3     Keratin, Epidermal Type II, K6A2
K6A2 3     Keratin, Type II Cytoskeletal 6A2
Keratin 6C1     CK-6A3
Keratin 6D1     CK-6D3
CK6A2     Cytokeratin-6A3
CK6C2     Cytokeratin-6D3
CK6D2     Keratin-6A3
K6C2     Allergen Hom S 53
K6D2     

External Ids:    HGNC: 64431   Entrez Gene: 38532   Ensembl: ENSG000002054207   OMIM: 1480415   UniProtKB: P025383   

Export aliases for KRT6A gene to outside databases

Previous GC identifers: GC12M053016 GC12M052871 GC12M052598 GC12M051168 GC12M051170 GC12M051173 GC12M051176 GC12M049927


(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 KRT6A 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. As many as six of this type II cytokeratin (KRT6) have been
identified; the multiplicity of the genes is attributed to successive gene duplication events. The genes are
expressed with family members KRT16 and/or KRT17 in the filiform papillae of the tongue, the stratified
epithelial lining of oral mucosa and esophagus, the outer root sheath of hair follicles, and the glandular
epithelia. This KRT6 gene in particular encodes the most abundant isoform. Mutations in these genes have been
associated with pachyonychia congenita. The type II cytokeratins are clustered in a region of chromosome
12q12-q13. (provided by RefSeq, Jul 2008)

GeneCards Summary for KRT6A Gene: 
KRT6A (keratin 6A) is a protein-coding gene. Diseases associated with KRT6A include krt6a-related pachyonychia congenita, and glossitis, and among its related super-pathways are Cytoskeleton remodeling Keratin filaments. GO annotations related to this gene include protein binding and structural constituent of cytoskeleton. An important paralog of this gene is KRT74.

Gene Wiki entry for KRT6A (Keratin 6A) 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 KRT6A gene promoter:
         AP-1   AML1a   Pax-5   AP-4   STAT5A   HNF-4alpha1   GATA-2   AREB6   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKRT6A promoter sequence
   Search SABiosciences Chromatin IP Primers for KRT6A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT6A


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

KRT6A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT6A gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M052880:  view genomic region     (about GC identifiers)

Start:
52,880,958 bp from pter      End:
52,887,181 bp from pter
Size:
6,224 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: K2C6A_HUMAN, P02538 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 6A  
Size: 564 amino acids; 60045 Da
Subunit: Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17. Interacts
with TCHP
Allergen: Causes an allergic reaction in human. Binds to IgE from atopic dermatitis (AD) patients. Identified as
an IgE autoantigen in atopic dermatitis (AD) patients with severe skin manifestations
Miscellaneous: There are at least six isoforms of human type II keratin-6 (K6), K6A being the most abundant
representing about 77% of all forms found in epithelia
Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to
basic) (40-55 and 56-70 kDa, respectively)
Secondary accessions: A4QPC1 P48667 Q08AR4 Q6NT67 Q96CL4

Explore the universe of human proteins at neXtProt for KRT6A: NX_P02538

Explore proteomics data for KRT6A at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02538

  • KRT6A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KRT6A Protein Expression
    REFSEQ proteins: NP_005545.1  
    ENSEMBL proteins: 
     ENSP00000369317  

    Human Recombinant Protein Products for KRT6A: 
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    Cloud-Clone Corp. Proteins for KRT6A 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005882intermediate filament TAS2410904
    GO:0045095keratin filament IEA--

    KRT6A for ontologies           About GeneDecksing



    KRT6A 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 P02538

    ProtoNet protein and cluster: P02538

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


    UniProtKB/Swiss-Prot: K2C6A_HUMAN, P02538
    Similarity: Belongs to the intermediate filament family


    KRT6A 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 KRT6A:
    keratin 6A,type II,upper outer hair root sheat,nail bed,palm and sole skin,suprabasal orogenital mucosal
    keratinocytes,dimerizing with KRT16

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton NAS7543104
    GO:0005515protein binding IPI15731013
         
    KRT6A for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KRT6A:
     Decreased G3BP1 protein expres 

         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Krt6a):
     behavior/neurological  craniofacial  digestive/alimentary  growth/size  homeostasis/metabolism 
     integument  mortality/aging 

    KRT6A for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KRT6A: Krt6atm1Der Krt6a/Krt6bKrt6a/tm1Der Krt6a/Krt6bKrt6a/tm1Cou

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KRT6A 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KRT6A 
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    hsa-miR-1184 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidKRT6A 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT6A


    (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 KRT6A About                                                                                                See pathways by source

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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for KRT6A
        Cytoskeleton remodeling Keratin filaments


    1 Cell Signaling Technology (CST) Pathway for KRT6A
        Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for KRT6A
        Cytoskeleton remodeling Keratin filaments




    KRT6A for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRT6A

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

    5/44 Interacting proteins for KRT6A (P025381, 3 ENSP000003693174) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158341, 3, ENSP000003116954EBI-702198,EBI-739674 I2D: score=5 STRING: ENSP00000311695
    KRT15P190123, ENSP000002540434I2D: score=4 STRING: ENSP00000254043
    KRT17Q046953, ENSP000003084524I2D: score=4 STRING: ENSP00000308452
    DSPP159243, ENSP000003691294I2D: score=1 STRING: ENSP00000369129
    TCHPQ9BT923, ENSP000003244044I2D: score=1 STRING: ENSP00000324404
    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:0007398ectoderm development TAS7545493
    GO:0008284positive regulation of cell proliferation NAS7543104
    GO:0030154cell differentiation NAS7543104

    KRT6A 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

    KRT6A for compounds           About GeneDecksing

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

    Browse Tocris compounds for KRT6A (K2C6A)

    1 Novoseek inferred chemical compound relationship for KRT6A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    proline 40.3 1 15840119 (1)

    Search CenterWatch for drugs/clinical trials and news about KRT6A / K2C6A

    (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 KRT6A gene: 
    NM_005554.3  

    Unigene Cluster for KRT6A:

    Keratin 6A
    Hs.700779  [show with all ESTs]
    Unigene Representative Sequence: NM_005554
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000330722(uc001sam.3) ENST00000548735 ENST00000549898 ENST00000549600
    ENST00000549754
    miRNA
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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT6A:
    hsa-miR-1184 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmidKRT6A 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT6A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT6A

    Additional mRNA sequence: 

    AK290245.1 AK299386.1 AK299428.1 AK301686.1 BC008807.2 BC014152.2 BC069269.1 BC125058.1 
    BC139753.1 BT006899.1 

    24/93 DOTS entries (see all 93):

    DT.97773116  DT.91671355  DT.95206987  DT.92011339  DT.91751901  DT.121118023  DT.121118646  DT.100651511 
    DT.121117884  DT.87013324  DT.100740885  DT.92470160  DT.95319524  DT.121118150  DT.121118859  DT.121118994 
    DT.100651505  DT.121118290  DT.121119031  DT.91807177  DT.100872408  DT.121118029  DT.121118672  DT.92019058 

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

    AK093720 AW243951 BT006899 AW366728 BE140567 BF876882 AW946461 BF915071 
    BQ330386 BF915078 AA586890 BF831594 BQ378588 CR612432 BF838929 AW366724 
    BF914819 AX748277 BQ350594 BC008807 BF149187 BF873253 AA583975 BC042132 

    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

    KRT6A expression in normal human tissues (normalized intensities)      KRT6A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAGCACAAG
    KRT6A Expression
    About this image


    KRT6A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Lung (Respiratory System)    fully expand to see all 5 entries
             Basal Cells Respiratory Bronchioles
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Epidermis (Integumentary System)    fully expand to see all 4 entries
             Stratified Epidermis
             Human EpiDermal Melanocytes-medium (HEM-m)   
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             visceral organ/oral region/upper jaw   
     
     Eye (Sensory Organs)    fully expand to see all 3 entries
             Human Corneal Epithelial Cells (HCEpiC)   
             cornea   

    See KRT6A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT6A

    SOURCE GeneReport for Unigene cluster: Hs.700779

    UniProtKB/Swiss-Prot: K2C6A_HUMAN, P02538
    Tissue specificity: Constitutively expressed in distinct types of epithelia such as those in oral mucosa,
    esophagus, papillae of tongue and hair follicle outer root sheath

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT6A

    (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 KRT6A gene from 3/7 species (see all 7)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Krt6a1 , 5 keratin 6A1, 5 87.64(n)1
    88.73(a)1
      15 (56.97 cM)5
    166871  NM_008476.31  NP_032502.31 
     1016899325 
    chicken
    (Gallus gallus)
    Aves --
    --
    59(a)
    possible ortholog
    LGE22C19W28_E50C23(558727-563179)
    rainbow trout
    (Oncorhynchus mykiss)
    Actinopterygii AJ272370.12   -- 79.6(n)    AJ272370.1 


    ENSEMBL Gene Tree for KRT6A (if available)
    TreeFam Gene Tree for KRT6A (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT6A gene
    KRT742  KRT772  KRT6B2  KRT832  KRT762  KRT32  KRT842  KRT862  
    KRT82  KRT812  KRT712  KRT72  KRT792  KRT722  KRT732  KRT6C2  
    KRT52  KRT852  KRT22  KRT752  KRT12  KRT822  KRT42  
    18/38 SIMAP similar genes for KRT6A using alignment to 1 protein entry:     K2C6A_HUMAN(see all similar genes):
    KRT6B    KRT6C    KRT5    KRT7    KRT75    KRT121P
    KRT4    KRT1B    KRT72    KRT77    KRT2    KRT79
    KRT1    KRT74    KRT73    KRT71    KRT76    KRT3

    KRT6A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/364 SNPs in KRT6A are shown (see all 364)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs605541621,2,4
    CPachyonychia congenita 1 (PC1)4 pathogenic152716553(-) AGGGTA/GAGGAG 2 K E mis10--------
    rs570526541,2,4
    CPachyonychia congenita 1 (PC1)4 pathogenic152716561(-) GCTGCC/G/TGGAGG 3 P R L mis10--------
    rs289330871,2,4
    CPachyonychia congenita 1 (PC1)4 pathogenic152720888(-) ACAAGC/G/TTTGCC 2 V F mis10--------
    rs590188881,2
    Cuntested152716564(-) CAAGCA/C/TGCTGG 3 Q P L mis10--------
    rs576299911,2
    Cuntested152716582(-) GGAGAA/G/TCGCCA 3 N S I mis10--------
    rs2676074681,2
    Cuntested152716586(-) ACGTGA/C/GAGATC 3 K Q E mis10--------
    rs2676074651,2
    Cuntested152719956(-) TTTCAC/G/TGTGCG 2 -- spa10--------
    rs2676074661,2
    Cuntested152719957(-) CTTTCA/C/GGGTGC 2 -- spa10--------
    rs611457961,2
    Cuntested152720887(-) CAAGTC/G/TTGCCT 3 S C F mis10--------
    rs585560991,2
    Cuntested152720896(-) CCTCAA/C/GCAACA 3 N T S mis10--------

    HapMap Linkage Disequilibrium report for KRT6A (52880958 - 52887181 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for KRT6A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2660079CNV Deletion23128226
    esv2745892CNV Deletion23290073
    nsv832413CNV Loss17160897
    nsv832411CNV Loss17160897
    dgv95n21CNV Loss19592680
    nsv832412CNV Loss17160897
    nsv832410CNV Gain17160897


    Human Gene Mutation Database (HGMD): KRT6A
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KRT6A
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT6A

    (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: 148041   
    OMIM disorders: 167200  
    UniProtKB/Swiss-Prot: K2C6A_HUMAN, P02538
  • Pachyonychia congenita 1 (PC1) [MIM:167200]: An autosomal dominant ectodermal dysplasia characterized by
    hypertrophic nail dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail),
    palmoplantar keratoderma, follicular hyperkeratosis, and oral leukokeratosis. Hyperhidrosis of the hands and feet
    is usually present. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/26 diseases for KRT6A (see all 26):    About MalaCards
    krt6a-related pachyonychia congenita    glossitis    median rhomboid glossitis    pachyonychia congenita
    hereditary mucosal leukokeratosis    epidermolytic hyperkeratosis    monilethrix    palmoplantar keratosis
    epidermolysis bullosa simplex    keratoderma    squamous cell carcinoma of the head and neck    keratosis
    epidermolysis bullosa    ectodermal dysplasia    skin disease    atopic dermatitis
    thyroid cancer    dermatitis    laryngitis    squamous cell carcinoma

    5 diseases from the University of Copenhagen DISEASES database for KRT6A:
    Pachyonychia congenita     Keratosis     Hereditary mucosal leukokeratosis     Monilethrix
    Median rhomboid glossitis

    KRT6A for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for KRT6A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pachyonychia congenita, type 1 97.3 5 17309457 (2), 19416275 (1), 12823309 (1)
    nail dystrophy 86.4 1 19609311 (1)
    epidermoid cyst 48.8 1 10606845 (1)
    genetic disorder 47.4 1 16250208 (1)
    skin diseases 44.1 2 17762855 (1), 19699613 (1)
    tumors 0 8 18414623 (2)

    GeneTests: KRT6A
    GeneReviews: KRT6A
    Genetic Association Database (GAD): KRT6A

    Export disorders for KRT6A 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 KRT6A gene, integrated from 9 sources (see all 76):
    (articles sorted by number of sources associating them with KRT6A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. (PubMed id 7545493)1, 2, 9 Bowden P.E....Turner R.J. (1995)
    2. Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. (PubMed id 11886499)1, 2, 9 Terrinoni A.... McLean W.H.I. (2001)
    3. Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. (PubMed id 1713141)1, 3, 9 Rosenberg M....Shows T.B. (1991)
    4. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (2006)
    5. Identification of trichoplein, a novel keratin filament-binding protein. (PubMed id 15731013)1, 2 Nishizawa M.... Inagaki M. (2005)
    6. 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)
    7. Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms. (PubMed id 7543104)1, 2 Takahashi K.... Coulombe P.A. (1995)
    8. The cDNA sequence of a type II cytoskeletal keratin reveals constant and variable structural domains among keratins. (PubMed id 6191871)1, 2 Hanukoglu I. and Fuchs E. (1983)
    9. Rapamycin selectively inhibits expression of an induc ible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. (PubMed id 19699613)1, 9 Hickerson R.P....Kaspar R.L. (2009)
    10. [Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I] (PubMed id 19806570)1, 9 Bai Z.L....He D.L. (2009)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3853 HGNC: 6443 AceView: KRT5 Ensembl:ENSG00000205420 euGenes: HUgn3853
    ECgene: KRT6A H-InvDB: KRT6A

    (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 KRT6A Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT6A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KRT6A gene:
    Search GeneIP for patents involving KRT6A

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



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