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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)
 Explore 27 diseases affiliated with
KRT6A via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KRT6A    

Aliases
for KRT6A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Keratin 6A1 2     Cytokeratin 6A2
KRT6D1 2 3     Cytokeratin 6C2
CK6C1 2     Cytokeratin 6D2
CK6D1 2     Keratin, Epidermal Type II, K6A2
K6C1 2     Keratin, Type II Cytoskeletal 6A2
K6D1 2     CK-6A3
KRT6C1 2     CK-6D3
Type-II Keratin Kb62 3     Cytokeratin-6A3
K6A2 3     Cytokeratin-6D3
Keratin 6C1     Keratin-6A3
Keratin 6D1     Allergen Hom S 53
CK6A2     

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


Summaries
for KRT6A gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for KRT6A:
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)

Gene Wiki entry for KRT6A (Keratin 6A)


Genomic Views
for KRT6A gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KRT6A gene promoter:
         AP-1   AML1a   Pax-5   AP-4   STAT5A   HNF-4alpha1   GATA-2   AREB6   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KRT6A 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

Proteins
for KRT6A gene

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P02538

    • KRT6A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005545.1  
    ENSEMBL proteins: 
     ENSP00000369317  

    Human Recombinant Protein Products: 
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    Novus Biologicals KRT6A Proteins
    Novus Biologicals KRT6A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for KRT6A

    Protein Domains /
    Families
    for KRT6A gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KRT6A for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P02538

    ProtoNet protein and cluster: P02538

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


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


    Function
    for KRT6A gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:
         Genatlas biochemistry entry for KRT6A:
    keratin 6A,type II,upper outer hair root sheat,nail bed,palm and sole skin,suprabasal orogenital mucosal
    keratinocytes,dimerizing with KRT16

    miRNA
    Products:            		 OriGene 3'-UTR Clone: KRT6A
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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 plasmid: KRT6A 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KRT6A (see all 4)
    OriGene shRNA RFP: KRT6A
    OriGene siRNA: KRT6A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT6A

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for KRT6A

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT6A (see all 2)
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    Cell Line
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    Search LifeMap BioReagents cell lines for KRT6A

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT6A

    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 IPI16189514


    KRT6A for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for KRT6A:
     Decreased G3BP1 protein expres 

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


    Pathways & Interactions
    for KRT6A gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

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

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for 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



    Drugs & Compounds
    for KRT6A gene

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

    KRT6A for compounds           About GeneDecksing

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

    Browse Tocris compounds for KRT6A
    1 Novoseek 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 

    Transcripts
    for KRT6A gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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
    Products:             		 OriGene 3'-UTR Clone: KRT6A
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT6A
    2 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT6A:
    hsa-miR-1184 hsa-miR-340
    SwitchGear 3'UTR luciferase reporter plasmid: KRT6A 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KRT6A (see all 4)
    OriGene shRNA RFP: KRT6A
    OriGene siRNA: KRT6A
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT6A
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT6A (see all 2)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT6A
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: KRT6A (NM_005554)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT6A
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT6A 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat KRT6A
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT6A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT6A

    Additional cDNA 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.100872408  DT.121118029  DT.121118672  DT.91807177  DT.92019058 

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

    BF831594 BQ378588 BF838929 CR612432 AW366724 BF149187 AK093720 BF914819 
    BF876882 BF915078 BC008807 BQ330386 BF873253 BE140567 AW946461 AA586890 
    BQ350594 AX748277 AW243951 BT006899 BF915071 AA583975 AW366728 NM_005554 

    GeneLoc Exon Structure


    Expression
    for KRT6A gene

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

    KRT6A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAGCACAAG

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

    KRT6A expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LungRespiratory BronchiolesBasal CellsLung
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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

        SABiosciences Custom PCR Arrays for KRT6A
    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT6A

    Orthologs
    for KRT6A gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for KRT6A gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves Q6PVZ5_CHICK6
    KRT86
    		 --
    		 66(a)
    42(a)
    		 possible ortholog
    possible ortholog
    		 E22C19W28_E50C23(642021-648330)
    E22C19W28_E50C23(508667-511528)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 3)    		 --
    61(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 AAWZ02039762(4434-6932)
    2(95689880-95702695)
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc:1369306
    wu:fb15e046
    (see all 3)    		 wu:fb15e04
    (see all 3)    		 21(a)
    18(a)
    (see all 3)    		 possible ortholog
    possible ortholog
    (see all 3)    		 2(32498013-32508762)
    21(24464941-24474821)
    worm
    (Caenorhabditis elegans)    		 Secernentea ifp-16
    ifc-26
    (see all 12)    		 Intermediate filament protein ifc-2
    (see all 12)    		 8(a)
    7(a)
    (see all 12)    		 possible ortholog
    possible ortholog
    (see all 12)    		 X(9675786-9680111)
    X(642160-654902)


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

    Paralogs
    for KRT6A gene

    (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  KRT862  KRT32  KRT842  
    KRT82  KRT812  KRT712  KRT8P112  KRT782  KRT72  ENSG000001704422  KRT792  
    KRT722  KRT732  KRT52  KRT6C2  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    KRT75    KRT7    KRT121P
    KRT4    KRT1B    KRT72    KRT77    KRT2    KRT79
    KRT1    KRT74    KRT73    KRT71    KRT76    KRT8

    KRT6A for paralogs           About GeneDecksing



    Genomic Variants
    for KRT6A gene

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

    10/264 NCBI SNPs in KRT6A are shown (see all 264)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs605541621,2
    		Cpathogenic49926029(-) AGGGTA/GAGGAG 2 K E mis10--------
    rs570526541,2
    		Cpathogenic49926037(-) GCTGCC/G/TGGAGG 3 P R L mis10--------
    rs289330871,2
    		Cpathogenic49930364(-) ACAAGT/GTTGCC 2 /V /F mis11Minor allele frequency- G:0.00NA 2
    rs590188881,2
    		Cuntested49926040(-) CAAGCA/C/TGCTGG 3 Q P L mis10--------
    rs576299911,2
    		Cuntested49926058(-) GGAGAA/G/TCGCCA 3 N S I mis10--------
    rs2676074681,2
    		Cuntested49926062(-) ACGTGA/C/GAGATC 3 K Q E mis10--------
    rs2676074651,2
    		Cuntested49929432(-) TTTCAC/G/TGTGCG 1 -- spa10--------
    rs2676074661,2
    		Cuntested49929433(-) CTTTCA/C/GGGTGC 1 -- spa10--------
    rs611457961,2
    		Cuntested49930363(-) CAAGTC/G/TTGCCT 3 S C F mis10--------
    rs585560991,2
    		Cuntested49930372(-) CCTCAA/C/GCAACA 3 N T S mis10--------

    HapMap Linkage Disequilibrium report for KRT6A (52880958 - 52887181 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for KRT6A
         2 CNVs: 4778 49087
    Human Gene Mutation Database (HGMD): KRT6A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRT6A
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT6A

    Disorders / Diseases
    for KRT6A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    KRT6A for disorders           About GeneDecksing

    OMIM gene information: 148041   
    OMIM disorders: 167200  
    UniProtKB/Swiss-Prot: K2C6A_HUMAN, P02538
  • Defects in KRT6A are a cause of pachyonychia congenita type 1 (PC1) [MIM:167200]; also known as
    • Jadassohn-Lewandowsky syndrome. PC1 is 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

    20/27 diseases for KRT6A (see all 27):    About MalaCards
    pachyonychia congenita    median rhomboid glossitis    hereditary mucosal leukokeratosis    epidermolysis bullosa
    epidermolytic hyperkeratosis    epidermolysis bullosa simplex    glossitis    palmoplantar keratosis
    ectodermal dysplasia    squamous cell carcinoma of the head and neck    squamous cell carcinoma    skin disease
    monilethrix    atopic dermatitis    keratosis    keratoderma
    dermatitis    laryngitis    thyroid cancer    gastric cancer

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

    6 Novoseek 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
    Pachyonychia Congenita

    Genetic Association Database (GAD): KRT6A

    Export disorders for KRT6A gene to outside databases

    Publications
    for KRT6A gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KRT6A gene, integrated from 9 sources (see all 65):
    (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)

    External Searches for KRT6A gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing KRT6A gene

    (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

    Other Databases showing KRT6A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KRT6A gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KRT6A Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT6A

    Intellectual Property
    for KRT6A gene

    (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

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