Human Gene KRT6B (ENST00000252252.4_7) from GENCODE V47lift37
  Description: keratin 6B (from RefSeq NM_005555.4)
Gencode Transcript: ENST00000252252.4_7
Gencode Gene: ENSG00000185479.6_9
Transcript (Including UTRs)
   Position: hg19 chr12:52,840,435-52,845,930 Size: 5,496 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr12:52,840,974-52,845,862 Size: 4,889 Coding Exon Count: 9 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:52,840,435-52,845,930)mRNA (may differ from genome)Protein (564 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedReactomeUniProtKB
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: K2C6B_HUMAN
DESCRIPTION: RecName: Full=Keratin, type II cytoskeletal 6B; AltName: Full=Cytokeratin-6B; Short=CK-6B; AltName: Full=Keratin-6B; Short=K6B; AltName: Full=Type-II keratin Kb10;
SUBUNIT: Heterodimer of a type I and a type II keratin. KRT6 isomers associate with KRT16 and/or KRT17.
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.
DISEASE: 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.
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).
SIMILARITY: Belongs to the intermediate filament family.
WEB RESOURCE: Name=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT6B";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: KRT6B
Diseases sorted by gene-association score: pachyonychia congenita 4* (1229), pachyonychia congenita 1* (340), krt6b-related pachyonychia congenita* (100), median rhomboid glossitis (25), glossitis (22), pachyonychia congenita 2 (15), tongue disease (6), ichthyosis bullosa of siemens (6), white sponge nevus 1 (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 359.43 RPKM in Esophagus - Mucosa
Total median expression: 561.31 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -3.3768-0.050 Picture PostScript Text
3' UTR -154.20539-0.286 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR016044 - F
IPR001664 - IF
IPR018039 - Intermediate_filament_CS
IPR003054 - Keratin_II

Pfam Domains:
PF00038 - Intermediate filament protein
PF16208 - Keratin type II head

SCOP Domains:
46579 - Prefoldin
103657 - BAR/IMD domain-like
64593 - Intermediate filament protein, coiled coil region
90257 - Myosin rod fragments
57997 - Tropomyosin
58100 - Bacterial hemolysins

ModBase Predicted Comparative 3D Structure on P04259
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0007398 ectoderm development
GO:0031424 keratinization
GO:0070268 cornification

Cellular Component:
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0045095 keratin filament
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC034535 - Homo sapiens keratin 6B, mRNA (cDNA clone MGC:24922 IMAGE:4754558), complete cds.
JD109685 - Sequence 90709 from Patent EP1572962.
JD101483 - Sequence 82507 from Patent EP1572962.
JD486733 - Sequence 467757 from Patent EP1572962.
JD094859 - Sequence 75883 from Patent EP1572962.
JD110885 - Sequence 91909 from Patent EP1572962.
JD080230 - Sequence 61254 from Patent EP1572962.
L42612 - Homo sapiens keratin 6 isoform K6f (KRT6F) mRNA, complete cds.
JD273736 - Sequence 254760 from Patent EP1572962.
JD150293 - Sequence 131317 from Patent EP1572962.
JD474584 - Sequence 455608 from Patent EP1572962.
JD147577 - Sequence 128601 from Patent EP1572962.
JD338253 - Sequence 319277 from Patent EP1572962.
AK296729 - Homo sapiens cDNA FLJ60647 complete cds, highly similar to Keratin, type II cytoskeletal 6B.
KJ891524 - Synthetic construct Homo sapiens clone ccsbBroadEn_00918 KRT6B gene, encodes complete protein.
DQ891327 - Synthetic construct clone IMAGE:100003957; FLH171113.01X; RZPDo839F03100D keratin 6B (KRT6B) gene, encodes complete protein.
DQ894511 - Synthetic construct Homo sapiens clone IMAGE:100008971; FLH171112.01L; RZPDo839F0399D keratin 6B (KRT6B) gene, encodes complete protein.
AB590330 - Synthetic construct DNA, clone: pFN21AE2276, Homo sapiens KRT6B gene for keratin 6B, without stop codon, in Flexi system.
CU689912 - Synthetic construct Homo sapiens gateway clone IMAGE:100017410 5' read KRT6B mRNA.
JD024952 - Sequence 5976 from Patent EP1572962.
JD036276 - Sequence 17300 from Patent EP1572962.
JD019472 - Sequence 496 from Patent EP1572962.
JD029130 - Sequence 10154 from Patent EP1572962.
JD021879 - Sequence 2903 from Patent EP1572962.
JD030557 - Sequence 11581 from Patent EP1572962.
JD336197 - Sequence 317221 from Patent EP1572962.
JD317488 - Sequence 298512 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P04259 (Reactome details) participates in the following event(s):

R-HSA-6805546 Keratin type I binds keratin type II
R-HSA-6805573 Keratin type I/type II heterodimers form tetramers
R-HSA-6806613 Keratin tetramers bind to form unit length filaments
R-HSA-6805567 Keratinization
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000252252.1, ENST00000252252.2, ENST00000252252.3, K2C6B_HUMAN, K6B, KRTL1, NM_005555, P04259, P48669, uc317fgp.1, uc317fgp.2
UCSC ID: ENST00000252252.4_7
RefSeq Accession: NM_005555.4
Protein: P04259 (aka K2C6B_HUMAN or K2CB_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene KRT6B:
pc (Pachyonychia Congenita)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.