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Aliases for KRT5 Gene

Aliases for KRT5 Gene

  • Keratin 5 2 3 5
  • Keratin 5 (Epidermolysis Bullosa Simplex, Dowling-Meara/Kobner/Weber-Cockayne Types) 2 3
  • Epidermolysis Bullosa Simplex 2 Dowling-Meara/Kobner/Weber-Cockayne Types 2 3
  • Type-II Keratin Kb5 3 4
  • Keratin 5, Type II 2 3
  • Cytokeratin-5 3 4
  • CK-5 3 4
  • K5 3 4
  • Keratin, Type II Cytoskeletal 5 3
  • 58 Kda Cytokeratin 3
  • 58 KDa Cytokeratin 4
  • Keratin-5 4
  • KRT5A 3
  • DDD1 3
  • EBS2 3
  • CK5 3
  • DDD 3

External Ids for KRT5 Gene

Previous HGNC Symbols for KRT5 Gene

  • EBS2

Previous GeneCards Identifiers for KRT5 Gene

  • GC12M052976
  • GC12M052938
  • GC12M052625
  • GC12M051194
  • GC12M049953
  • GC12M052908

Summaries for KRT5 Gene

Entrez Gene Summary for KRT5 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 the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT5 Gene

KRT5 (Keratin 5) is a Protein Coding gene. Diseases associated with KRT5 include Epidermolysis Bullosa Simplex, Weber-Cockayne Type and Epidermolysis Bullosa Simplex, Dowling-Meara Type. Among its related pathways are Cytoskeletal Signaling and Glucocorticoid receptor regulatory network. GO annotations related to this gene include structural molecule activity and scaffold protein binding. An important paralog of this gene is KRT6A.

Gene Wiki entry for KRT5 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT5 Gene

Genomics for KRT5 Gene

Regulatory Elements for KRT5 Gene

Enhancers for KRT5 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
GH12F052491 1.4 FANTOM5 Ensembl ENCODE 19.6 +26.1 26131 6.4 KLF17 SIN3A RAD21 ZNF48 ZNF335 ZNF121 SCRT2 ZNF143 ZNF391 DEK KRT6C KRT5 KRT6A KRT71 KRT82 KRT84 KRT87P KRT86 KRT2 KRT78
GH12F052515 1.6 FANTOM5 Ensembl ENCODE 18.8 -0.4 -358 11.4 ELF3 PKNOX1 ZNF133 ARID4B RAD21 ZNF48 ZNF121 GLIS2 GATA2 ZNF366 KRT5 KRT6A SP1 KRT6C KRT71 KRT74 HNRNPA3P10 KRT84 KRT2 KRT4
GH12F052566 0.9 ENCODE 10.1 -46.6 -46579 1.8 CTCF KLF1 PKNOX1 RFX1 PBX2 KRT1 KRT5 KRT79 KRT78 KRT4 KRT72 KRT73 KRT74 KRT71
GH12F052143 1.3 FANTOM5 Ensembl ENCODE 9.8 +370.1 370084 14.9 HDGF PKNOX1 SIN3A YBX1 BRCA1 GLIS2 ELK1 ZNF143 ZNF207 FOS TFCP2 KRT5 ENSG00000257989 KRT7 KRT6A OR7E47P IGFBP6 KRT6C KRT80 ATG101
GH12F052513 0.5 ENCODE 5.5 +6.7 6722 1.2 HDGF PKNOX1 ARNT ARID4B SIN3A ZNF48 ZNF766 ELK1 ZNF207 FOS KRT6A KRT71 KRT6C KRT5 ENSG00000259884 GC12M052518
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around KRT5 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT5 Gene

Chromosome:
12
Start:
52,514,575 bp from pter
End:
52,520,687 bp from pter
Size:
6,113 bases
Orientation:
Minus strand

Genomic View for KRT5 Gene

Genes around KRT5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT5 Gene

Proteins for KRT5 Gene

  • Protein details for KRT5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13647-K2C5_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 5
    Protein Accession:
    P13647
    Secondary Accessions:
    • Q6PI71
    • Q6UBJ0
    • Q8TA91

    Protein attributes for KRT5 Gene

    Size:
    590 amino acids
    Molecular mass:
    62378 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins. Keratin-5 associates with keratin-14. Interacts with TCHP. Interacts with KEPPK1 (By similarity).
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

    Three dimensional structures from OCA and Proteopedia for KRT5 Gene

neXtProt entry for KRT5 Gene

Post-translational modifications for KRT5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT5 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for KRT5 (K5)

No data available for DME Specific Peptides for KRT5 Gene

Domains & Families for KRT5 Gene

Gene Families for KRT5 Gene

Suggested Antigen Peptide Sequences for KRT5 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P13647

UniProtKB/Swiss-Prot:

K2C5_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT5: view

Function for KRT5 Gene

Molecular function for KRT5 Gene

GENATLAS Biochemistry:
keratin 5,type II,basal layer,dimerizing with KRT14

Gene Ontology (GO) - Molecular Function for KRT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 7520042
GO:0005515 protein binding IPI 10727209
GO:0097110 scaffold protein binding IPI 10852826
genes like me logo Genes that share ontologies with KRT5: view
genes like me logo Genes that share phenotypes with KRT5: view

Human Phenotype Ontology for KRT5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT5 Gene

MGI Knock Outs for KRT5:

Animal Model Products

miRNA for KRT5 Gene

miRTarBase miRNAs that target KRT5

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KRT5

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KRT5 Gene

Localization for KRT5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT5 Gene COMPARTMENTS Subcellular localization image for KRT5 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
extracellular 5
nucleus 5
mitochondrion 3
plasma membrane 3
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KRT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IDA 22170488
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA,IDA 10852826
genes like me logo Genes that share ontologies with KRT5: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT5 Gene

Pathways & Interactions for KRT5 Gene

genes like me logo Genes that share pathways with KRT5: view

Pathways by source for KRT5 Gene

1 Cell Signaling Technology pathway for KRT5 Gene
1 BioSystems pathway for KRT5 Gene
1 Reactome pathway for KRT5 Gene
1 GeneGo (Thomson Reuters) pathway for KRT5 Gene

Gene Ontology (GO) - Biological Process for KRT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007010 cytoskeleton organization IEA --
GO:0008544 epidermis development TAS 7520042
GO:0031581 hemidesmosome assembly TAS --
genes like me logo Genes that share ontologies with KRT5: view

No data available for SIGNOR curated interactions for KRT5 Gene

Drugs & Compounds for KRT5 Gene

(20) Drugs for KRT5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(9) Additional Compounds for KRT5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT5: view

Transcripts for KRT5 Gene

Unigene Clusters for KRT5 Gene

Keratin 5:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for KRT5

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KRT5 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9a · 9b ^ 10a · 10b ^ 11
SP1: - -
SP2: -
SP3:
SP4:
SP5:
SP6:

Relevant External Links for KRT5 Gene

GeneLoc Exon Structure for
KRT5
ECgene alternative splicing isoforms for
KRT5

Expression for KRT5 Gene

mRNA expression in normal human tissues for KRT5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT5 Gene

This gene is overexpressed in Esophagus - Mucosa (x17.2), Skin - Not Sun Exposed (Suprapubic) (x11.9), Skin - Sun Exposed (Lower leg) (x10.0), and Vagina (x5.8).

Protein differential expression in normal tissues from HIPED for KRT5 Gene

This gene is overexpressed in Hair follicle (36.9) and Saliva (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KRT5 Gene



Protein tissue co-expression partners for KRT5 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KRT5 Gene:

KRT5

SOURCE GeneReport for Unigene cluster for KRT5 Gene:

Hs.433845
genes like me logo Genes that share expression patterns with KRT5: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for KRT5 Gene

Orthologs for KRT5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT5 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KRT5 34 35
  • 89.36 (n)
dog
(Canis familiaris)
Mammalia KRT5 34 35
  • 89.29 (n)
rat
(Rattus norvegicus)
Mammalia Krt5 34
  • 88.16 (n)
mouse
(Mus musculus)
Mammalia Krt5 34 16 35
  • 85.57 (n)
oppossum
(Monodelphis domestica)
Mammalia KRT5 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KRT5 35
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves KRT6A 35
  • 73 (a)
ManyToMany
KRT5 34
  • 72.88 (n)
KRT75 35
  • 67 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia krt5.2 34
  • 68.22 (n)
Species where no ortholog for KRT5 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)
  • chimpanzee (Pan troglodytes)
  • 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 KRT5 Gene

ENSEMBL:
Gene Tree for KRT5 (if available)
TreeFam:
Gene Tree for KRT5 (if available)

Paralogs for KRT5 Gene

Pseudogenes.org Pseudogenes for KRT5 Gene

genes like me logo Genes that share paralogs with KRT5: view

Variants for KRT5 Gene

Sequence variations from dbSNP and Humsavar for KRT5 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs121912475 Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900], Pathogenic 52,519,160(-) TCCAG(A/G/T)TGCGG reference, missense
rs121912476 Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900], Pathogenic 52,516,824(-) ATGCC(A/G)AGCAG reference, missense
rs267607456 Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760], untested 52,519,802(-) GTGAG(G/T)ACCGA reference, missense
rs267607457 Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800], untested 52,519,159(-) CCAGG(A/T)GCGGT reference, missense
rs267607458 Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800], untested 52,516,794(-) AGGAT(A/G)CCAGG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for KRT5 Gene

Variant ID Type Subtype PubMed ID
nsv558933 CNV loss 21841781
nsv709 CNV insertion 18451855
nsv832412 CNV loss 17160897
nsv973067 CNV duplication 23825009

Variation tolerance for KRT5 Gene

Residual Variation Intolerance Score: 82.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.17; 84.77% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KRT5 Gene

Human Gene Mutation Database (HGMD)
KRT5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT5 Gene

Disorders for KRT5 Gene

MalaCards: The human disease database

(89) MalaCards diseases for KRT5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epidermolysis bullosa simplex, weber-cockayne type
  • epidermolysis bullosa of hands and feet
epidermolysis bullosa simplex, dowling-meara type
  • epidermolysis bullosa simplex dowling-meara type
epidermolysis bullosa simplex, koebner type
  • epidermolysis bullosa simplex, generalized
dowling-degos disease 1
  • reticulate acropigmentation of kitamura
epidermolysis bullosa simplex-mp
  • epidermolysis bullosa simplex with mottled pigmentation
- elite association - COSMIC cancer census association via MalaCards
Search KRT5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K2C5_HUMAN
  • Dowling-Degos disease 1 (DDD1) [MIM:179850]: An autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. {ECO:0000269 PubMed:16465624}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. {ECO:0000269 PubMed:10730767, ECO:0000269 PubMed:12655565, ECO:0000269 PubMed:1372711, ECO:0000269 PubMed:16786515, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:21623745, ECO:0000269 PubMed:8757772, ECO:0000269 PubMed:9036937, ECO:0000269 PubMed:9406827, ECO:0000269 PubMed:9989794, ECO:0000269 Ref.16}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe. {ECO:0000269 PubMed:11407988, ECO:0000269 PubMed:11973334, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:21623745, ECO:0000269 PubMed:7534039, ECO:0000269 PubMed:7686424, ECO:0000269 PubMed:9740251, ECO:0000269 PubMed:9989794}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, Weber-Cockayne type (WC-EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. {ECO:0000269 PubMed:10782015, ECO:0000269 PubMed:12655565, ECO:0000269 PubMed:12707098, ECO:0000269 PubMed:14723728, ECO:0000269 PubMed:15140024, ECO:0000269 PubMed:15347343, ECO:0000269 PubMed:16786515, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:21623745, ECO:0000269 PubMed:7506097, ECO:0000269 PubMed:7520042, ECO:0000269 PubMed:7688477, ECO:0000269 PubMed:8595431, ECO:0000269 PubMed:8807337, ECO:0000269 PubMed:9804357}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE) [MIM:609352]: A form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS, with no evidence of tonofilament clumping. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS) [MIM:131960]: A form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and mottled pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules. {ECO:0000269 PubMed:10494094, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:21623745, ECO:0000269 PubMed:8799157}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for KRT5

Genetic Association Database (GAD)
KRT5
Human Genome Epidemiology (HuGE) Navigator
KRT5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KRT5
genes like me logo Genes that share disorders with KRT5: view

No data available for Genatlas for KRT5 Gene

Publications for KRT5 Gene

  1. Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (PMID: 16882168) Yasukawa K. … Shimizu H. (Br. J. Dermatol. 2006) 3 4 22 64
  2. A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype. (PMID: 15140024) Liovic M. … Komel R. (Exp. Dermatol. 2004) 3 4 22 64
  3. A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. (PMID: 15347343) Li J.-G. … Peng Z.-H. (Clin. Exp. Dermatol. 2004) 3 4 22 64
  4. A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex. (PMID: 14723728) Xu Z. … Yang Y. (Clin. Exp. Dermatol. 2004) 3 4 22 64
  5. Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. (PMID: 12655565) Schuilenga-Hut P.H.L. … Scheffer H. (Hum. Mutat. 2003) 3 4 22 64

Products for KRT5 Gene

Sources for KRT5 Gene

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