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    KRT6B keratin 6B [ Homo sapiens (human) ]

    Gene ID: 3854, updated on 5-May-2013
    Official Symbol
    KRT6Bprovided by HGNC
    Official Full Name
    keratin 6Bprovided by HGNC
    Primary source
    HGNC:6444
    See related
    Ensembl:ENSG00000185479; HPRD:01012; MIM:148042; Vega:OTTHUMG00000169593
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    K6B; PC2; CK6B; CK-6B; KRTL1
    Summary
    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]
    Location :
    12q13.13
    Sequence :
    Chromosome: 12; NC_000012.11 (52840435..52845910, complement)
    See KRT6B in Epigenomics, MapViewer

    Chromosome 12 - NC_000012.11Genomic Context describing neighboring genes Neighboring gene keratin 124 pseudogene Neighboring gene keratin 75 Neighboring gene keratin 6C Neighboring gene keratin 6A

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus. Singh G, et al. Cell, 2012 Nov 9. PMID 23084401.
    2. The diagnostic utility of D2-40, calretinin, CK5/6, desmin and MOC-31 in the differentiation of mesothelioma from adenocarcinoma in pleural effusion cytology. Hyun TS, et al. Acta Cytol, 2012. PMID 23075894.
    3. A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. Eliason MJ, et al. J Am Acad Dermatol, 2012 Oct. PMID 22264670.
    4. Integrative analysis of the ubiquitin proteome isolated using Tandem Ubiquitin Binding Entities (TUBEs). Lopitz-Otsoa F, et al. J Proteomics, 2012 Jun 6. PMID 22178446.
    5. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.

    See all (27) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Data show that calretinin and CK5/6 were positive in 100 and 64% of mesotheliomas, and 92 and 31% of reactive effusions, respectively, and desmin was negative in all malignant cases and positive in 85% of reactive effusions.
      Title: The diagnostic utility of D2-40, calretinin, CK5/6, desmin and MOC-31 in the differentiation of mesothelioma from adenocarcinoma in pleural effusion cytology.
    2. We found that the KRT16 mutation carriers developed plantar keratoderma at a similar age to KRT6a carriers wheras KRT6B and KRT17 carriers were significantly more likely to report later onset.
      Title: A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.
    3. Studies show that the intrinsic molecular signature of five markers, ER, PR, HER-2, CK 5/6, and EGFR, demonstrated specificity of 100% and sensitivity of 75%, compared with classification by gene expression profiling.
      Title: Prediction of local recurrence, distant metastases, and death after breast-conserving therapy in early-stage invasive breast cancer using a five-biomarker panel.
    Submit: New GeneRIF Correction

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Pachyonychia congenita type 2

    Summary from GeneReviews: Pachyonychia Congenita Go to GeneReviews

    Disease Characteristics
    Pachyonychia congenita (PC) is characterized by hypertrophic nail dystrophy, painful palmoplantar keratoderma and blistering, oral leukokeratosis, pilosebaceous cysts (including steatocystoma and vellus hair cysts), palmoplantar hyperhydrosis, and follicular keratoses on the trunk and extremities.
    Diagnosis Testing
    PC is diagnosed by clinical findings and by molecular genetic testing. Molecular genetic testing of the four keratin genes (KRT6A, KRT6B, KRT16, and KRT17) in which mutations are known to cause PC is clinically available.
    Genetic Counseling
    Pachyonychia congenita is inherited in an autosomal dominant manner. Approximately 50% of cases appear to result from a de novo mutation. A single case of germline mosaicism has been reported. Each offspring of an affected individual has a 50% chance of inheriting the disorder. Prenatal diagnosis is possible for pregnancies at increased risk if the disease-causing mutation in the family is known.
    References
    Products Interactant Other Gene Complex Source Pubs Description
    P04259 P19012 KRT15    HPRD  PubMed  
    P04259 P08727 KRT19    HPRD  PubMed  
    BioGRID:110052 BioGRID:106715 ALB    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:107587 AP2M1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:120937 CAND1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:107315 CBL    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:116183 COPS5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:107788 CRK    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:114032 CUL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:114030 CUL3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:113743 CUL5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:229729 Cep290    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:115119 EIF4A3    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:109848 INPPL1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:115015 IQCB1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:200780 Invs    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:235913 Iqcb1    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:110064 KRT15    BioGRID  PubMed Two-hybrid 
    BioGRID:110052 BioGRID:110078 KRT19    BioGRID  PubMed Two-hybrid 
    BioGRID:110052 BioGRID:124390 UBASH3B    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:110052 BioGRID:119509 UCHL5    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    structural constituent of cytoskeleton TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    ectoderm development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    keratin filament IEA
    Inferred from Electronic Annotation
    more info
    		  
    Preferred Names
    keratin, type II cytoskeletal 6B
    Names
    keratin, type II cytoskeletal 6B
    keratin-6B
    cytokeratin 6B
    cytokeratin-6B
    type-II keratin Kb10
    keratin, epidermal, type II, K6B
    keratin-like 1 (a type II keratin sequence)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008299.1 RefSeqGene

      Range
      5001..10476
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_005555.3 → NP_005546.2  keratin, type II cytoskeletal 6B

      Status: REVIEWED

      Source sequence(s)
      BC034535, BG679927
      Consensus CDS
      CCDS8828.1
      UniProtKB/Swiss-Prot
      P04259
      Related
      ENSP00000252252, OTTHUMP00000241630, ENST00000252252, OTTHUMT00000404969
      Conserved Domains (1) summary
      pfam00038
      Location:162 – 475
      Blast Score: 975
      Filament; Intermediate filament protein

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000012.11 Reference GRCh37.p10 Primary Assembly

      Range
      52840435..52845910, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000144.1 Alternate HuRef

      Range
      49884338..49889813, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018923.1 Alternate CHM1_1.0

      Range
      52674793..52680269, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01008292.1 (36658..42133) None
    genomic AC055736.20 (111712..117122) None
    genomic AMYH01004472.1 (144616..150092) None
    genomic CH471054.1 EAW96626.1
      EAW96627.1
    genomic HI519564.1 CBX54363.1
    genomic L00205.1 AAA59466.1
    genomic L42584.1 AAC41768.1
    genomic L42585.1 AAC41768.1
    genomic L42586.1 AAC41768.1
    genomic L42587.1 AAC41768.1
    genomic L42588.1 AAC41768.1
    genomic L42589.1 AAC41768.1
    genomic L42590.1 AAC41768.1
    genomic L42591.1 AAC41768.1
    genomic L42592.1 AAC41768.1
    genomic M11229.1 AAA59466.1
    mRNA AK296729.1 BAG59316.1
    mRNA BC034535.1 AAH34535.1
    mRNA BG679927.1 None
    mRNA L42612.1 AAC41771.1
    other-genetic DQ891327.2 ABM82253.1
    other-genetic DQ894511.2 ABM85437.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P04259.5 GenPept UniProtKB/Swiss-Prot:P04259

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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    Research Materials
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      Supplemental Content

      Table of contents

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      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • Books
        Links between Entrez Gene and 'Books' are established if a GeneID is explicitly referenced in a book.
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
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        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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