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Aliases for KRT4 Gene

Aliases for KRT4 Gene

  • Keratin 4 2 3 5
  • Keratin, Type II Cytoskeletal 4 2 3
  • Type-II Keratin Kb4 3 4
  • Keratin 4, Type II 2 3
  • Cytokeratin 4 2 3
  • CYK4 3 4
  • CK-4 3 4
  • K4 3 4
  • Cytokeratin-4 4
  • Keratin-4 4
  • WSN1 3
  • CK4 3

External Ids for KRT4 Gene

Previous HGNC Symbols for KRT4 Gene

  • CYK4

Previous GeneCards Identifiers for KRT4 Gene

  • GC12M053448
  • GC12P053657
  • GC12M052627
  • GC12M051486
  • GC12M053200
  • GC12M050244

Summaries for KRT4 Gene

Entrez Gene Summary for KRT4 Gene

  • 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. This type II cytokeratin is specifically expressed in differentiated layers of the mucosal and esophageal epithelia with family member KRT13. Mutations in these genes have been associated with White Sponge Nevus, characterized by oral, esophageal, and anal leukoplakia. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT4 Gene

KRT4 (Keratin 4) is a Protein Coding gene. Diseases associated with KRT4 include White Sponge Nevus 1 and White Sponge Nevus Of Cannon, Krt4-Related. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Keratinization. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is KRT3.

Gene Wiki entry for KRT4 Gene

Additional gene information for KRT4 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT4 Gene

Genomics for KRT4 Gene

Regulatory Elements for KRT4 Gene

Enhancers for KRT4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H052869 2 FANTOM5 Ensembl ENCODE dbSUPER 7.8 -58.8 -58775 7.1 HDGF PKNOX1 SIN3A ZBTB7B ZNF766 CBX5 ZNF207 ZNF143 FOS REST AAAS KRT2 LOC100652999 PCBP2 EIF4B SP1 ZNF740 ATF7 KRT84 PFDN5
GH12H052867 1.3 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -53.2 -53190 1.4 ZNF664 USF2 KRT2 KRT74 KRT79 KRT4 KRT84 KRT8 KRT1 KRT77 KRT78 RPL7P41
GH12H052968 1.5 Ensembl ENCODE dbSUPER 9.1 -156.6 -156598 4.7 HDGF PKNOX1 SIN3A FEZF1 ZBTB7B ZNF207 FOS DEK TSHZ1 SMARCB1 KRT18 KRT79 KRT82 KRT84 KRT71 KRT4 KRT86 KRT8 LOC283335 SOAT2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRT4 on UCSC Golden Path with GeneCards custom track

Genomic Locations for KRT4 Gene

Genomic Locations for KRT4 Gene
8,009 bases
Minus strand

Genomic View for KRT4 Gene

Genes around KRT4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT4 Gene

Proteins for KRT4 Gene

  • Protein details for KRT4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Keratin, type II cytoskeletal 4
    Protein Accession:
    Secondary Accessions:
    • F8VS64
    • Q6GTR8
    • Q96LA7
    • Q9BTL1

    Protein attributes for KRT4 Gene

    534 amino acids
    Molecular mass:
    57285 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins. Keratin-4 is generally associated with keratin-13.
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

neXtProt entry for KRT4 Gene

Post-translational modifications for KRT4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT4 Gene

Domains & Families for KRT4 Gene

Gene Families for KRT4 Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KRT4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the intermediate filament family.
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT4: view

Function for KRT4 Gene

Molecular function for KRT4 Gene

GENATLAS Biochemistry:
keratin 4,type II,non cornifying mucosal epithelia (buccal,nasal,esophageal,anogenital)

Phenotypes From GWAS Catalog for KRT4 Gene

Gene Ontology (GO) - Molecular Function for KRT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 17709412
genes like me logo Genes that share ontologies with KRT4: view
genes like me logo Genes that share phenotypes with KRT4: view

Human Phenotype Ontology for KRT4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT4 Gene

MGI Knock Outs for KRT4:

Animal Model Products

miRNA for KRT4 Gene

miRTarBase miRNAs that target KRT4

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KRT4 Gene

Localization for KRT4 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT4 gene
Compartment Confidence
cytoskeleton 5
nucleus 5
cytosol 5
extracellular 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA,NAS 2452170
GO:0009986 cell surface IDA 17709412
GO:0045095 keratin filament IDA 21371075
genes like me logo Genes that share ontologies with KRT4: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT4 Gene

Pathways & Interactions for KRT4 Gene

genes like me logo Genes that share pathways with KRT4: view

Pathways by source for KRT4 Gene

1 Cell Signaling Technology pathway for KRT4 Gene
2 Reactome pathways for KRT4 Gene
1 GeneGo (Thomson Reuters) pathway for KRT4 Gene

Gene Ontology (GO) - Biological Process for KRT4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization NAS 2452170
GO:0030855 epithelial cell differentiation IEA,ISS --
GO:0031424 keratinization TAS --
GO:0050680 negative regulation of epithelial cell proliferation ISS,IEA --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT4: view

No data available for SIGNOR curated interactions for KRT4 Gene

Drugs & Compounds for KRT4 Gene

(3) Drugs for KRT4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for KRT4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT4: view

Transcripts for KRT4 Gene

Unigene Clusters for KRT4 Gene

Keratin 4:
Representative Sequences:

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT4 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10
SP1: - -
SP2: - - -
SP3: - - - - -
SP4: - - -
SP5: -

Relevant External Links for KRT4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KRT4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KRT4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT4 Gene

This gene is overexpressed in Esophagus - Mucosa (x38.5), Minor Salivary Gland (x7.6), and Vagina (x4.4).

Protein differential expression in normal tissues from HIPED for KRT4 Gene

This gene is overexpressed in Saliva (48.6), Esophagus (9.6), and Urine (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT4 Gene

Protein tissue co-expression partners for KRT4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KRT4 Gene:


SOURCE GeneReport for Unigene cluster for KRT4 Gene:


mRNA Expression by UniProt/SwissProt for KRT4 Gene:

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.

Evidence on tissue expression from TISSUES for KRT4 Gene

  • Nervous system(4.2)
  • Eye(2.6)
  • Lung(2.6)
  • Intestine(2.1)
  • Skin(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT4 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • digestive
  • integumentary
  • respiratory
Head and neck:
  • head
  • mouth
  • nose
  • pharynx
  • esophagus
  • rectum
  • vagina
  • skin
genes like me logo Genes that share expression patterns with KRT4: view

Orthologs for KRT4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KRT4 33 34
  • 98.46 (n)
(Bos Taurus)
Mammalia KRT4 33 34
  • 86.01 (n)
(Canis familiaris)
Mammalia KRT4 33
  • 85.26 (n)
KRT71 34
  • 76 (a)
(Mus musculus)
Mammalia Krt4 33 16 34
  • 83.05 (n)
(Rattus norvegicus)
Mammalia Krt4 33
  • 81.97 (n)
(Monodelphis domestica)
Mammalia KRT4 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 73 (a)
(Gallus gallus)
Aves KRT4 33
  • 70.63 (n)
-- 34
  • 61 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489468 33
  • 61.86 (n)
Species where no ortholog for KRT4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KRT4 Gene

Gene Tree for KRT4 (if available)
Gene Tree for KRT4 (if available)

Paralogs for KRT4 Gene

Variants for KRT4 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KRT4 Gene

Three alleles of K4 are known: K4A2 (shown here), K4A1 and K4B.

Sequence variations from dbSNP and Humsavar for KRT4 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_016038 White sponge nevus 1 (WSN1) [MIM:193900]
rs587776844 Pathogenic 52,813,619(+) CAAAC(-/TTG)TTGTT cds-indel
rs587776845 Pathogenic 52,813,639(+) TGATC(-/TTG)TGTTC cds-indel
rs62642055 Pathogenic 52,807,687(-) ACATC(A/G)AGATC reference, missense
rs113928381 Likely benign 52,808,339(+) ATCAT(C/T)CTGTT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for KRT4 Gene

Variant ID Type Subtype PubMed ID
nsv976623 CNV duplication 23825009
nsv832416 CNV loss 17160897
nsv470293 CNV loss 18288195
nsv1048816 CNV gain 25217958
esv3629524 CNV gain 21293372

Variation tolerance for KRT4 Gene

Residual Variation Intolerance Score: 94.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.92; 91.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT4 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for KRT4 Gene

MalaCards: The human disease database

(10) MalaCards diseases for KRT4 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
white sponge nevus 1
  • hereditary mucosal leukokeratosis
white sponge nevus of cannon, krt4-related
  • hereditary mucosal leukokeratosis, krt4-related
cloacogenic carcinoma
  • cloacogenic anal carcinoma
  • dwarf tapeworm infection
- elite association - COSMIC cancer census association via MalaCards
Search KRT4 in MalaCards View complete list of genes associated with diseases


  • White sponge nevus 1 (WSN1) [MIM:193900]: A rare disorder 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. {ECO:0000269 PubMed:10652003, ECO:0000269 PubMed:12828738}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KRT4

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KRT4: view

No data available for Genatlas for KRT4 Gene

Publications for KRT4 Gene

  1. A glutamine insertion in the 1A alpha helical domain of the keratin 4 gene in a familial case of white sponge nevus. (PMID: 10652003) Terrinoni A … Melino G (The Journal of investigative dermatology 2000) 3 4 22 60
  2. Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12. (PMID: 7684424) Wanner R … Mischke D (The Journal of investigative dermatology 1993) 3 4 22 60
  3. Comparative analysis of the expression of cytokeratins (1, 10, 14, 16, 4), involucrin, filaggrin and e-cadherin in plane warts and epidermodysplasia verruciformis plane wart-type lesions. (PMID: 19515043) Barcelos AC … Sotto MN (Journal of cutaneous pathology 2009) 3 22 60
  4. The surface protein Srr-1 of Streptococcus agalactiae binds human keratin 4 and promotes adherence to epithelial HEp-2 cells. (PMID: 17709412) Samen U … Borges F (Infection and immunity 2007) 3 22 60
  5. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J … Wright MW (The Journal of cell biology 2006) 2 3 60

Products for KRT4 Gene

Sources for KRT4 Gene

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