Human Gene KRT4 (ENST00000551956.2_7) from GENCODE V47lift37
  Description: keratin 4 (from RefSeq NM_002272.4)
Gencode Transcript: ENST00000551956.2_7
Gencode Gene: ENSG00000170477.13_9
Transcript (Including UTRs)
   Position: hg19 chr12:53,200,333-53,207,900 Size: 7,568 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr12:53,200,853-53,207,842 Size: 6,990 Coding Exon Count: 9 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:53,200,333-53,207,900)mRNA (may differ from genome)Protein (520 aa)
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-  Comments and Description Text from UniProtKB
  ID: K2C4_HUMAN
DESCRIPTION: RecName: Full=Keratin, type II cytoskeletal 4; AltName: Full=Cytokeratin-4; Short=CK-4; AltName: Full=Keratin-4; Short=K4; AltName: Full=Type-II keratin Kb4;
SUBUNIT: Heterotetramer of two type I and two type II keratins. Keratin-4 is generally associated with keratin-13.
TISSUE SPECIFICITY: Detected in the suprabasal layer of the stratified epithelium of the esophagus, exocervix, vagina, mouth and lingual mucosa, and in cells and cell clusters in the mucosa and serous gland ducts of the esophageal submucosa (at protein level). Expressed widely in the exocervix and esophageal epithelium, with lowest levels detected in the basal cell layer.
POLYMORPHISM: Three alleles of K4 are known: K4A2 (shown here), K4A1 and K4B.
DISEASE: Defects in KRT4 are a cause of white sponge nevus of cannon (WSN) [MIM:193900]. WSN is a rare autosomal dominant disorder which predominantly affects non-cornified stratified squamous epithelia. Clinically, it is characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved.
MISCELLANEOUS: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).
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/KRT4";

-  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: KRT4
Diseases sorted by gene-association score: white sponge nevus 1* (1588), white sponge nevus of cannon, krt4-related* (100), leukoplakia (19), cloacogenic carcinoma (11), hymenolepiasis (9), conjunctival cancer (8), darier disease (7), conjunctival squamous cell carcinoma (7), hard palate cancer (6), esophageal cancer (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 8924.25 RPKM in Esophagus - Mucosa
Total median expression: 9619.25 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 -17.0058-0.293 Picture PostScript Text
3' UTR -144.80520-0.278 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
140657 - Hyaluronidase post-catalytic domain-like
64593 - Intermediate filament protein, coiled coil region
90257 - Myosin rod fragments
57997 - Tropomyosin
58014 - Coiled-coil domain of nucleotide exchange factor GrpE
161270 - PspA lactotransferrin-binding region
58100 - Bacterial hemolysins

ModBase Predicted Comparative 3D Structure on P19013
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 DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005198 structural molecule activity
GO:0005515 protein binding

Biological Process:
GO:0007010 cytoskeleton organization
GO:0030855 epithelial cell differentiation
GO:0031424 keratinization
GO:0050680 negative regulation of epithelial cell proliferation
GO:0070268 cornification

Cellular Component:
GO:0005634 nucleus
GO:0005829 cytosol
GO:0005882 intermediate filament
GO:0009986 cell surface
GO:0045095 keratin filament
GO:0045111 intermediate filament cytoskeleton


-  Descriptions from all associated GenBank mRNAs
  BC032132 - Homo sapiens keratin 4, mRNA (cDNA clone IMAGE:3927526), partial cds.
BC003630 - Homo sapiens keratin 4, mRNA (cDNA clone IMAGE:2989740), partial cds.
BC042174 - Homo sapiens keratin 4, mRNA (cDNA clone MGC:52326 IMAGE:5453644), complete cds.
BC012867 - Homo sapiens cDNA clone IMAGE:3862719, containing frame-shift errors.
X07695 - Human mRNA for cytokeratin 4 C-terminal region.
AK098110 - Homo sapiens cDNA FLJ40791 fis, clone TRACH2007358, highly similar to KERATIN, TYPE II CYTOSKELETAL 4.
AK056254 - Homo sapiens cDNA FLJ31692 fis, clone NT2RI2005647, highly similar to KERATIN, TYPE II CYTOSKELETAL 4.
JD528594 - Sequence 509618 from Patent EP1572962.
AK299451 - Homo sapiens cDNA FLJ55805 complete cds, highly similar to Keratin, type II cytoskeletal 4.
AK299394 - Homo sapiens cDNA FLJ59399 complete cds, highly similar to Keratin, type II cytoskeletal 4.
AK307941 - Homo sapiens cDNA, FLJ97889.
JD506519 - Sequence 487543 from Patent EP1572962.
JD492939 - Sequence 473963 from Patent EP1572962.
JD355954 - Sequence 336978 from Patent EP1572962.
JD119673 - Sequence 100697 from Patent EP1572962.
JD122795 - Sequence 103819 from Patent EP1572962.
JD090048 - Sequence 71072 from Patent EP1572962.
JD469016 - Sequence 450040 from Patent EP1572962.
JD343021 - Sequence 324045 from Patent EP1572962.
JD466284 - Sequence 447308 from Patent EP1572962.
AK296582 - Homo sapiens cDNA FLJ58539 complete cds, highly similar to Keratin, type II cytoskeletal 4.
AK299400 - Homo sapiens cDNA FLJ58275 complete cds, highly similar to Keratin, type II cytoskeletal 4.
JD111711 - Sequence 92735 from Patent EP1572962.
JD246453 - Sequence 227477 from Patent EP1572962.
JD368428 - Sequence 349452 from Patent EP1572962.
JD282444 - Sequence 263468 from Patent EP1572962.
JD162563 - Sequence 143587 from Patent EP1572962.
JD548267 - Sequence 529291 from Patent EP1572962.
JD370146 - Sequence 351170 from Patent EP1572962.
JD078662 - Sequence 59686 from Patent EP1572962.
EU832356 - Synthetic construct Homo sapiens clone HAIB:100067385; DKFZo008H1027 keratin 4 protein (KRT4) gene, encodes complete protein.
EU832441 - Synthetic construct Homo sapiens clone HAIB:100067470; DKFZo004H1028 keratin 4 protein (KRT4) gene, encodes complete protein.
KJ901545 - Synthetic construct Homo sapiens clone ccsbBroadEn_10939 KRT4 gene, encodes complete protein.
CU692074 - Synthetic construct Homo sapiens gateway clone IMAGE:100022476 5' read KRT4 mRNA.
X67683 - H.sapiens mRNA for keratin 4.
JD140542 - Sequence 121566 from Patent EP1572962.
JD407155 - Sequence 388179 from Patent EP1572962.

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

Protein P19013 (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: B4DRS2, CYK4, ENST00000551956.1, F8VS64, K2C4_HUMAN, NM_002272, P19013, Q6GTR8, Q96LA7, Q9BTL1, uc325cyk.1, uc325cyk.2
UCSC ID: ENST00000551956.2_7
RefSeq Accession: NM_002272.4
Protein: P19013 (aka K2C4_HUMAN)

-  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.