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

KRT6B Gene

protein-coding   GIFtS: 55
GCID: GC12M052840

keratin 6B

(Previous name: keratin-like 1 (a type II keratin sequence) )
(Previous symbol: KRTL1)
 Explore 19 diseases affiliated with
KRT6B via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for KRT6B    

Aliases
for KRT6B gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Keratin 6B1 2     Cytokeratin 6B2
KRTL11 2 3     Cytokeratin-6B3
Keratin-Like 1 (A Type II Keratin Sequence)1 2     Keratin, Epidermal, Type II, K6B2
Type-II Keratin Kb102 3     Keratin, Type II Cytoskeletal 6B2
CK-6B2 3     Keratin-6B3
K6B2 3     Cytokeratin-6B3
PC22 5     Keratin-6B3
CK6B2     

External Ids:    HGNC: 64441   Entrez Gene: 38542   Ensembl: ENSG000001854797   OMIM: 1480425   UniProtKB: P042593   

Export aliases for KRT6B gene to outside databases

Previous GC identifers: GC12U990045 GC12M052870 GC12M052558 GC12M051126 GC12M049884


Summaries
for KRT6B 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 KRT6B:
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. 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)




Genomic Views
for KRT6B 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 KRT6B gene promoter:
         c-Fos   TBP   NRSF form 1   NRSF form 2   Egr-4   HNF-4alpha1   YY1   GATA-2   FOXO4   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KRT6B promoter sequence
   Search SABiosciences Chromatin IP Primers for KRT6B

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT6B


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

KRT6B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT6B gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M052840:  view genomic region     (about GC identifiers)

Start:
 52,840,435 bp from pter      End:
 52,845,910 bp from pter
Size:
 5,476 bases      Orientation:
 minus strand

Proteins
for KRT6B 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: K2C6B_HUMAN, P04259 (See protein sequence)
Recommended Name: Keratin, type II cytoskeletal 6B  
Size: 564 amino acids; 60067 Da
Subunit: Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17
Miscellaneous: There are at least six isoforms of human type II keratin-6 (K6)
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: P48669

Explore the universe of human proteins at neXtProt for KRT6B: NX_P04259

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P04259

    • KRT6B Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005546.2  
    ENSEMBL proteins: 
     ENSP00000252252  

    Human Recombinant Protein Products: 
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    OriGene Protein Over-expression Lysate: KRT6B
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    Novus Biologicals KRT6B Protein
    Novus Biologicals KRT6B Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for KRT6B

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045095keratin filament IEA--


    KRT6B for ontologies           About GeneDecksing



    KRT6B Antibody Products: 
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    Uscn ELISAs and CLIAs for KRT6B

    Protein Domains /
    Families
    for KRT6B gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    KRT6B 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 P04259

    ProtoNet protein and cluster: P04259

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


    UniProtKB/Swiss-Prot: K2C6B_HUMAN, P04259
    Similarity: Belongs to the intermediate filament family


    Function
    for KRT6B 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 KRT6B:
    keratin 6B,type II,upper outer hair root sheat,nail bed,palm and sole skin,suprabasal orogenital mucosal
    keratinocytes,dimerizing with KRT17

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: KRT6B 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 KRT6B (see all 4)
    OriGene shRNA RFP: KRT6B
    OriGene siRNA: KRT6B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT6B

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for KRT6B

    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT6B (see all 2)
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    Cell Line
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    Search LifeMap BioReagents cell lines for KRT6B

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT6B

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton TAS9618173


    KRT6B for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for KRT6B: Krt6a/Krt6bKrt6a/tm1Cou Krt6a/Krt6bKrt6a/tm1Der
         6 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Krt6b):
     behavior/neurological  craniofacial  digestive/alimentary  growth/size  integument 
     mortality/aging 

    KRT6B for phenotypes           About GeneDecksing


    Pathways & Interactions
    for KRT6B 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
    1Cytoskeletal Signaling
    		Cytoskeletal Signaling1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for KRT6B
        Cytoskeletal Signaling



    KRT6B for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KRT6B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    5/53 Interacting proteins for KRT6B (P042592, 3 ENSP000002522524) via UniProtKB, MINT, STRING, and/or I2D (see all 53)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KRT15P190122, 3, ENSP000002540434MINT-66123 I2D: score=5 STRING: ENSP00000254043
    KRT19P087272, 3, ENSP000003551244MINT-66526 I2D: score=5 STRING: ENSP00000355124
    PPP2R2BQ000053, ENSP000003365914I2D: score=1 STRING: ENSP00000336591
    UCHL5Q9Y5K53, ENSP000003564254I2D: score=1 STRING: ENSP00000356425
    ALBP027683, ENSP000002958974I2D: score=1 STRING: ENSP00000295897
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007398ectoderm development TAS9618173


    KRT6B for ontologies           About GeneDecksing



    Drugs & Compounds
    for KRT6B 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

    KRT6B for compounds           About GeneDecksing

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

    Browse Tocris compounds for KRT6B
    1 Novoseek chemical compound relationship for KRT6B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcium 0 3 15845576 (2), 17111037 (1)

    Search CenterWatch for drugs/clinical trials and news about KRT6B / K2C6B 

    Transcripts
    for KRT6B 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 KRT6B gene: 
    NM_005555.3  

    Unigene Cluster for KRT6B:

    Keratin 6B
    Hs.708950  [show with all ESTs]
    Unigene Representative Sequence: NM_005555
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000252252(uc001sak.3)

    miRNA
    Products:             		 OriGene 3'-UTR Clone: KRT6B
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT6B
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate KRT6B
    SwitchGear 3'UTR luciferase reporter plasmid: KRT6B 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 KRT6B (see all 4)
    OriGene shRNA RFP: KRT6B
    OriGene siRNA: KRT6B
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT6B
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT6B
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    GenScript: all cDNA clones in your preferred vector: KRT6B (NM_005555)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT6B 
    Primer
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRT6B
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    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KRT6B
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT6B
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT6B

    Additional cDNA sequence: 

    AK296729.1 BC034535.1 L42612.1 

    24/65 DOTS entries (see all 65):

    DT.100651500  DT.92410359  DT.97773116  DT.95286244  DT.121119151  DT.92019058  DT.91671355  DT.97845748 
    DT.100868025  DT.91876411  DT.121118994  DT.92011339  DT.92470199  DT.92470200  DT.100740956  DT.121118029 
    DT.92470176  DT.100651511  DT.100740885  DT.121118150  DT.121118510  DT.87013324  DT.91944354  DT.95319524 

    24/26 AceView cDNA sequences (see all 26):

    AW389503 BQ348315 BG876901 BQ354200 BQ349872 BF349421 AW352377 AW238462 
    BQ310807 BF088687 BQ351425 BG945769 BQ354697 BQ353581 BQ310829 BF088609 
    BF356168 BF357093 BF478295 BF738447 BE932624 BQ359229 BQ300237 BQ300227 

    GeneLoc Exon Structure


    Expression
    for KRT6B 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

    KRT6B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CGAATGTCCT

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

    KRT6B 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 KRT6B Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KRT6B

    SOURCE GeneReport for Unigene cluster: Hs.708950

    UniProtKB/Swiss-Prot: K2C6B_HUMAN, P04259
    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 KRT6B
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT6B

    Orthologs
    for KRT6B 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 KRT6B gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves Q6PVZ5_CHICK6
    KRT86
    		 --
    		 65(a)
    42(a)
    		 possible ortholog
    possible ortholog
    		 E22C19W28_E50C23(642021-648330)
    E22C19W28_E50C23(508667-511528)
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 3)    		 --
    60(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 KRT6B (if available)
    TreeFam Gene Tree for KRT6B (if available) 

    Paralogs
    for KRT6B gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KRT6B gene
    KRT742  KRT772  KRT832  KRT762  KRT862  KRT32  KRT842  KRT82  
    KRT812  KRT712  KRT8P112  KRT782  KRT72  ENSG000001704422  KRT792  KRT722  
    KRT732  KRT52  KRT6C2  KRT6A2  KRT852  KRT22  KRT752  KRT12  
    KRT822  KRT42  
    18/41 SIMAP similar genes for KRT6B using alignment to 1 protein entry:     K2C6B_HUMAN(see all similar genes):
    KRT6A    KRT6C    KRT5    KRT75    KRT7    KRT4
    KRT121P    KRT72    KRT1B    KRT77    KRT2    KRT79
    KRT1    KRT73    KRT74    KRT71    KRT76    KRT8

    KRT6B for paralogs           About GeneDecksing



    Genomic Variants
    for KRT6B 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

    10/258 NCBI SNPs in KRT6B are shown (see all 258)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs606277261,2
    		Cpathogenic49885475(-) AGGGCA/GAGGAG 2 K E mis10--------
    rs111701231,2
    		C,F,H,--49884149(+) GTCCAC/TCGGAG 1 -- ds500116Minor allele frequency- T:0.02NS EA NA CSA 2104
    rs111701241,2
    		C,F,H,--49884159(+) GTGTCC/TGACAG 1 -- ds50019Minor allele frequency- T:0.07NS EA NA WA CSA 546
    rs38478291,2
    		C,A,H,--49884204(+) GAGGGG/AGAGCT 1 -- ds50014Minor allele frequency- A:0.14NA WA EA 360
    rs733086131,2
    		C,--49884454(+) ACACTG/TCAAGA 1 -- ut312Minor allele frequency- T:0.12WA 120
    rs1164365201,2
    		C,F,--49884458(+) TGCAAG/AAGAAG 1 -- ut311Minor allele frequency- A:0.09WA 118
    rs758937291,2
    		F,--49884767(+) TACCCG/CGGAGG 1 -- ut311Minor allele frequency- C:0.17WA 118
    rs108762921,2
    		C,F,A,H,--49886034(+) GCAAAC/TGTTGT 1 -- int120Minor allele frequency- T:0.06NS EA NA WA CSA 2348
    rs22773861,2
    		C,F,H,,--49886814(+) TAAACA/TCTGGA 1 -- int16Minor allele frequency- T:0.12EA NS CSA WA NA 1968
    rs71362791,2
    		C,F,,--49886952(+) TCTATC/GGTAGC 1 -- int12Minor allele frequency- G:0.09WA EA 238

    HapMap Linkage Disequilibrium report for KRT6B (52840435 - 52845910 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for KRT6B
         3 CNVs: 61242 4778 9207
    Human Gene Mutation Database (HGMD): KRT6B

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRT6B
    DNA2.0 Custom Variant and Variant Library Synthesis for KRT6B

    Disorders / Diseases
    for KRT6B 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
    KRT6B for disorders           About GeneDecksing

    OMIM gene information: 148042   
    OMIM disorders: 167210  
    UniProtKB/Swiss-Prot: K2C6B_HUMAN, P04259
  • Defects in KRT6B are a cause of pachyonychia congenita type 2 (PC2) [MIM:167210]; also known as pachyonychia
    • congenita Jackson-Lawler type. PC2 is an autosomal dominant ectodermal dysplasia characterized by hypertrophic nail
    dystrophy resulting in onchyogryposis (thickening and increase in curvature of the nail), palmoplantar keratoderma and
    hyperhidrosis, follicular hyperkeratosis, multiple epidermal cysts, absent/sparse eyebrow and body hair, and by the
    presence of natal teeth

    19 diseases for KRT6B:    About MalaCards
    pachyonychia congenita    median rhomboid glossitis    pachyonychia congenita type 2    epidermolysis bullosa simplex
    glossitis    palmoplantar keratosis    epidermolysis bullosa    ectodermal dysplasia
    monilethrix    keratosis    keratoderma    squamous cell carcinoma
    sjogren's syndrome    keratitis    hepatocellular carcinoma    pharyngitis
    breast cancer    carcinoma    neuronitis

    5 diseases from the University of Copenhagen DISEASES database for KRT6B:
    Pachyonychia congenita     Median rhomboid glossitis     Monilethrix     Keratosis
    Hereditary mucosal leukokeratosis

    5 Novoseek disease relationships for KRT6B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pachyonychia congenita, type 2 95.6 2 11886499 (1), 9618173 (1)
    pachyonychia congenita, type 1 90.8 1 11886499 (1)
    nail dystrophy 86.9 1 19609311 (1)
    genetic disorder 38.7 1 16250208 (1)
    tumors 0 1 10887174 (1)

    GeneTests: KRT6B
    Pachyonychia Congenita


    Export disorders for KRT6B gene to outside databases

    Publications
    for KRT6B 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 KRT6B gene, integrated from 9 sources (see all 44):
    (articles sorted by number of sources associating them with KRT6B)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. (PubMed id 9618173)1, 2, 9 Smith F.J.D.... McLean W.H.I. (1998)
    2. 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)
    3. Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms. (PubMed id 7543104)1, 2, 9 Takahashi K.... Coulombe P.A. (1995)
    4. New consensus nomenclature for mammalian keratins. (PubMed id 16831889)1, 3 Schweizer J....Wright M.W. (2006)
    5. 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)
    6. Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes. (PubMed id 1286667)1, 2 Rasmussen H.H....Vandekerckhove J. (1992)
    7. The sequence of a type II keratin gene expressed in human skin: conservation of structure among all intermediate filament genes. (PubMed id 2410904)1, 2 Tyner A.L.... Fuchs E. (1985)
    8. The diagnostic utility of D2-40, calretinin, CK5/6, de smin and MOC-31 in the differentiation of mesothelioma from adenocarcinoma in pl eural effusion cytology. (PubMed id 23075894)1 Hyun T.S....Tabatabai Z.L. (2012)
    9. The interaction between ubiquitin C-terminal hydrolas e 37 and glucose-regulated protein 78 in hepatocellular carcinoma. (PubMed id 21800051)1 Fang Y....Shen X. (2012)
    10. A review of the clinical phenotype of 254 patients wit h genetically confirmed pachyonychia congenita. (PubMed id 22264670)1 Eliason M.J....Hansen C.D. (2012)

    External Searches for KRT6B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing KRT6B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 3854 HGNC: 6444 AceView: KRT6B Ensembl:ENSG00000185479 euGenes: HUgn3854
    ECgene: KRT6B H-InvDB: KRT6B

    Other Databases showing KRT6B gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing KRT6B 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 KRT6B Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT6B

    Intellectual Property
    for KRT6B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for KRT6B gene:
    Search GeneIP for patents involving KRT6B

    GeneCards and IP:
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