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 K... See more...

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
  • Keratin, Type II Cytoskeletal 5 3 4
  • Type-II Keratin Kb5 3 4
  • Keratin 5, Type II 2 3
  • Cytokeratin-5 3 4
  • CK-5 3 4
  • K5 3 4
  • 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 With Mottled Pigmentation and Epidermolysis Bullosa Simplex, Generalized. Among its related pathways are Glucocorticoid receptor regulatory network and Keratinization. Gene Ontology (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

Additional gene information for KRT5 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT5 Gene

Genomics for KRT5 Gene

GeneHancer (GH) Regulatory Elements for KRT5 Gene

Promoters and enhancers for KRT5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J052515 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 518.7 -0.5 -514 11.4 ZIC2 POLR2A EP300 CTBP1 DEK ZNF316 MAFF ZNF263 FOS NR3C1 KRT5 HSALNG0091190 lnc-KRT6A-1 KRT6A KRT6C KRT71 KRT74 KRT84 KRT2 KRT4
GH12J052491 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.6 +26.0 25973 6.4 TEAD4 ZIC2 POLR2A SAP30 HDAC2 WT1 CTCF FOS NR3C1 FOSL2 KRT6A KRT6B JA662198 KRT6C KRT5 KRT71 KRT82 KRT84 KRT87P KRT86
GH12J052143 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 9.8 +369.9 369927 14.9 ZNF217 CTCF TCF12 JUND FOS ZFX ZIC2 REST POLR2A CLOCK HSALNG0091158 HNRNPA3P10 KRT5 ENSG00000257989 KRT7 KRT6A OR7E47P IGFBP6 KRT6C KRT80
GH12J052566 Enhancer 0.7 Ensembl ENCODE 10.1 -47.0 -46960 2.2 EP300 PBX2 PKNOX1 VEZF1 MEIS2 KLF1 RFX1 lnc-KRT71-1 lnc-KRT74-1 KRT1 KRT5 KRT79 KRT78 KRT4 KRT72 KRT73 HNRNPA3P10
GH12J052707 Enhancer 0.6 Ensembl 9.9 -187.7 -187671 0.8 CTBP1 KLF9 KLF13 FOXK2 ZNF384 SIN3A VEZF1 MEIS2 PRDM4 GATA1 KRT1 KRT72 KRT2 KRT79 KRT76 KRT4 KRT78 KRT71 KRT82 KRT5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT5 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT5

Top Transcription factor binding sites by QIAGEN in the KRT5 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • COMP1
  • NRSF form 1
  • NRSF form 2
  • p53

Genomic Locations for KRT5 Gene

Genomic Locations for KRT5 Gene
chr12:52,514,575-52,520,530
(GRCh38/hg38)
Size:
5,956 bases
Orientation:
Minus strand
chr12:52,908,359-52,914,471
(GRCh37/hg19)
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:
    • Heterodimer of a type I and a type II keratin. Heterodimer with type I keratin KRT25 leading to the formation of keratin intermediate filament (KIF) network (PubMed:28899683). Heterodimer with KRT14 (PubMed:22705788). Interacts with TCHP (PubMed:15731013). Interacts with EPPK1 (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

No data available for DME Specific Peptides for KRT5 Gene

Domains & Families for KRT5 Gene

Gene Families for KRT5 Gene

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

Protein Domains for KRT5 Gene

Blocks:
  • Intermediate filament protein
  • Type I keratin signature
  • Type II keratin signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KRT5 Gene

GenScript: Design optimal peptide antigens:
  • Type-II keratin Kb5 (K2C5_HUMAN)
  • Keratin (Q9UEK9_HUMAN)

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

Phenotypes From GWAS Catalog for KRT5 Gene

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:
  • Krt5 Krt5<tm1Tmm>
  • Krt5 Krt5<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for KRT5 Gene

miRTarBase miRNAs that target KRT5

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT5

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

Localization for KRT5 Gene

Subcellular locations from

COMPARTMENTS
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 KRT5 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
nucleus 4
extracellular 3
plasma membrane 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRT5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IDA 22170488
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IDA,IEA 10852826
GO:0016020 membrane HDA 19946888
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 BioSystems pathway for KRT5 Gene
2 Reactome pathways for KRT5 Gene
1 GeneGo (Thomson Reuters) pathway for KRT5 Gene
  • Cytoskeleton remodeling Keratin filaments
1 Cell Signaling Technology pathway for KRT5 Gene

SIGNOR curated interactions for KRT5 Gene

Is activated by:

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:0031424 keratinization TAS --
GO:0031581 hemidesmosome assembly TAS --
GO:0070268 cornification TAS --
genes like me logo Genes that share ontologies with KRT5: view

Drugs & Compounds for KRT5 Gene

(24) Drugs for KRT5 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 2822
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target 0

(8) 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

mRNA/cDNA for KRT5 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT5

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

Expression for KRT5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for KRT5 Gene



Protein tissue co-expression partners for KRT5 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT5

SOURCE GeneReport for Unigene cluster for KRT5 Gene:

Hs.433845

Evidence on tissue expression from TISSUES for KRT5 Gene

  • Nervous system(5)
  • Skin(4.9)
  • Pancreas(4.8)
  • Liver(4.4)
  • Lung(4.4)
  • Eye(4.1)
  • Lymph node(2.9)
  • Blood(2.2)
  • Intestine(2.1)
  • Kidney(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT5 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns 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 31 30
  • 89.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KRT5 31 30
  • 89.29 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Krt5 30
  • 88.16 (n)
mouse
(Mus musculus)
Mammalia Krt5 17 31 30
  • 85.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia KRT5 31
  • 77 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KRT5 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves KRT6A 31
  • 73 (a)
ManyToMany
KRT5 30
  • 72.88 (n)
KRT75 31
  • 67 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 68 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia krt5.2 30
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for KRT5: view image

Paralogs for KRT5 Gene

(65) SIMAP similar genes for KRT5 Gene using alignment to 7 proteins:

  • K2C5_HUMAN
  • F8VU69_HUMAN
  • F8VV57_HUMAN
  • F8W0C6_HUMAN
  • H0YI76_HUMAN
  • H0YIN9_HUMAN
  • Q9UEK9_HUMAN

Pseudogenes.org Pseudogenes for KRT5 Gene

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

Variants for KRT5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT5 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
711340 Benign: not provided 52,515,179(-) G/A SYNONYMOUS_VARIANT
715647 Likely Benign: not provided 52,519,973(-) G/A SYNONYMOUS_VARIANT
718179 Likely Benign: not provided 52,517,130(-) C/T MISSENSE_VARIANT
725255 Benign: not provided 52,519,826(-) G/A SYNONYMOUS_VARIANT
726637 Benign: not provided 52,520,017(-) C/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KRT5 Gene

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)

Additional Variant Information for KRT5 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for KRT5 Gene

MalaCards: The human disease database

(181) MalaCards diseases for KRT5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- 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
  • Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]: A form of epidermolysis bullosa, a genodermatosis characterized by recurrent blistering and cleavage within basal keratinocytes, fragility of the skin and mucosal epithelia, and erosions caused by minor mechanical trauma. {ECO:0000269 PubMed:11973334}. 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.18}. 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: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.

Additional Disease Information for KRT5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (The British journal of dermatology 2006) 3 4 23 54
  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 JG … Peng ZH (Clinical and experimental dermatology 2004) 3 4 23 54
  3. A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex. (PMID: 14723728) Xu Z … Yang Y (Clinical and experimental dermatology 2004) 3 4 23 54
  4. 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 (Experimental dermatology 2004) 3 4 23 54
  5. 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 LH … Kitajima Y (The Journal of investigative dermatology 2003) 3 4 41 54

Products for KRT5 Gene

Sources for KRT5 Gene