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Aliases for KRT5 Gene

Aliases for KRT5 Gene

  • Keratin 5, Type II 2 3
  • 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
  • Cytokeratin-5 3 4
  • DDD1 3 6
  • CK-5 3 4
  • K5 3 4
  • Keratin, Type II Cytoskeletal 5 3
  • 58 Kda Cytokeratin 3
  • 58 KDa Cytokeratin 4
  • Keratin 5 2
  • Keratin-5 4
  • KRT5A 3
  • EBS2 3
  • CK5 3
  • DDD 3

External Ids for KRT5 Gene

Previous Symbols for KRT5 Gene

  • EBS2

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, Type II) is a Protein Coding gene. Diseases associated with KRT5 include dowling-degos disease 1 and epidermolysis bullosa simplex, weber-cockayne type. Among its related pathways are Glucocorticoid receptor regulatory network and Cytoskeletal Signaling. GO annotations related to this gene include structural constituent of cytoskeleton and scaffold protein binding. An important paralog of this gene is KRT82.

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

Genomic Location for KRT5 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KRT5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT5 Gene

Regulatory Elements 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.
    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

Proteomics data for KRT5 Gene at MOPED

Post-translational modifications for KRT5 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys178, Lys185, and Lys257

Other Protein References for KRT5 Gene

No data available for DME Specific Peptides for KRT5 Gene

Domains for KRT5 Gene

Gene Families for KRT5 Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

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
Family:
  • Belongs to the intermediate filament family.:
    • P13647
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:0005198 structural molecule activity --
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

Animal Models for KRT5 Gene

MGI Knock Outs for KRT5:

miRNA for KRT5 Gene

miRTarBase miRNAs that target KRT5

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 4
mitochondrion 2
nucleus 2
plasma membrane 2
extracellular 1
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 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 for KRT5 Gene

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

Pathways by source for KRT5 Gene

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

Gene Ontology (GO) - Biological Process for KRT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development TAS 7520042
GO:0031581 hemidesmosome assembly TAS --
GO:0034329 cell junction assembly TAS --
genes like me logo Genes that share ontologies with KRT5: view

Compounds for KRT5 Gene

(29) Novoseek inferred chemical compound relationships for KRT5 Gene

Compound -log(P) Hits PubMed IDs
kalinin 70.2 1
estrogen 42.3 14
retinoid 41 1
retinoic acid 36.8 5
acitretin 27.2 2
genes like me logo Genes that share compounds with KRT5: view

Transcripts for KRT5 Gene

Unigene Clusters for KRT5 Gene

Keratin 5:
Representative Sequences:

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 (17.2), Skin - Not Sun Exposed (Suprapubic) (11.9), Skin - Sun Exposed (Lower leg) (10.0), and Vagina (5.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KRT5 Gene

SOURCE GeneReport for Unigene cluster for KRT5 Gene Hs.433845

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

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 35
  • 89.36 (n)
  • 93.57 (a)
KRT5 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT5 35
  • 89.29 (n)
  • 92.81 (a)
KRT5 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt5 35
  • 85.57 (n)
  • 88.66 (a)
Krt5 16
Krt5 36
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KRT5 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KRT5 36
  • 77 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krt5 35
  • 88.16 (n)
  • 93.02 (a)
chicken
(Gallus gallus)
Aves KRT5 35
  • 72.88 (n)
  • 73.16 (a)
KRT6A 36
  • 73 (a)
ManyToMany
KRT75 36
  • 67 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia krt5.2 35
  • 68.22 (n)
  • 71.97 (a)
Species with no ortholog for KRT5:
  • 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 MAF
rs6603 -- 52,514,689(-) GAGAA(C/T)CCAAA utr-variant-3-prime
rs89962 -- 52,521,388(-) TCCTG(A/C)AGGTA upstream-variant-2KB
rs596453 -- 52,522,359(+) GCTCC(C/T)GCTCC upstream-variant-2KB
rs607860 -- 52,519,245(+) CTTTC(C/T)GTCCC intron-variant
rs638907 untested 52,519,733(+) AGATC(A/G)TAGCT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv832412 CNV Loss 17160897
nsv709 CNV Insertion 18451855

Relevant External Links for KRT5 Gene

HapMap Linkage Disequilibrium report
KRT5
Human Gene Mutation Database (HGMD)
KRT5

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

Disorders for KRT5 Gene

(7) OMIM Diseases for KRT5 Gene (148040)

UniProtKB/Swiss-Prot

K2C5_HUMAN
  • 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.15}. 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, 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, 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, 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.
  • 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.

(46) Novoseek inferred disease relationships for KRT5 Gene

Disease -log(P) Hits PubMed IDs
epidermolysis bullosa simplex 97.2 76
ebs-mp 91.9 4
epidermolysis bullosa 77 3
ichthyosis 61.1 1
keratoderma palmoplantar 60.3 1

Relevant External Links for KRT5

GeneTests
KRT5
GeneReviews
KRT5
Genetic Association Database (GAD)
KRT5
Human Genome Epidemiology (HuGE) Navigator
KRT5
genes like me logo Genes that share disorders with KRT5: view

Publications for KRT5 Gene

  1. A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. (PMID: 12925204) Gu L.-H. … Kitajima Y. (J. Invest. Dermatol. 2003) 3 4 23 48
  2. 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 23
  3. Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. (PMID: 10730767) Shemanko C.S. … Lane E.B. (Br. J. Dermatol. 2000) 3 4 23
  4. 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 23
  5. Epidermolysis bullosa simplex in Israel: clinical and genetic features. (PMID: 12707098) Ciubotaru D. … Sprecher E. (Arch. Dermatol. 2003) 3 4 23

Products for KRT5 Gene

Sources for KRT5 Gene

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