KRT14 Gene (Protein Coding)

Keratin 14

GC17M041582
GIFtS:
47
This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At leas... See more...

Aliases for KRT14 Gene

Aliases for KRT14 Gene

  • Keratin 14 2 3 5
  • Keratin, Type I Cytoskeletal 14 3 4
  • Keratin 14, Type I 2 3
  • K14 3 4
  • Keratin 14 (Epidermolysis Bullosa Simplex, Dowling-Meara, Koebner) 2
  • Epidermolysis Bullosa Simplex, Dowling-Meara, Koebner 2
  • Cytokeratin 14 3
  • Cytokeratin-14 4
  • Keratin-14 4
  • KRT14 5
  • CK-14 4
  • CK14 3
  • EBS3 3
  • EBS4 3
  • NFJ 3

External Ids for KRT14 Gene

Previous HGNC Symbols for KRT14 Gene

  • EBS3
  • EBS4

Previous GeneCards Identifiers for KRT14 Gene

  • GC17M038859
  • GC17P041732
  • GC17M039543
  • GC17M040111
  • GC17M036993
  • GC17M039738
  • GC17M035501

Summaries for KRT14 Gene

Entrez Gene Summary for KRT14 Gene

  • This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT14 Gene

KRT14 (Keratin 14) is a Protein Coding gene. Diseases associated with KRT14 include Epidermolysis Bullosa Simplex, Dowling-Meara Type and Epidermolysis Bullosa Simplex, Localized. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Relaxin signaling pathway. Gene Ontology (GO) annotations related to this gene include structural molecule activity and keratin filament binding. An important paralog of this gene is KRT16.

UniProtKB/Swiss-Prot Summary for KRT14 Gene

  • The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.

Gene Wiki entry for KRT14 Gene

Additional gene information for KRT14 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT14 Gene

Genomics for KRT14 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for KRT14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT14 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT14

Top Transcription factor binding sites by QIAGEN in the KRT14 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • C/EBPalpha
  • Sp1
  • STAT3
  • TBP

Genomic Locations for KRT14 Gene

Genomic Locations for KRT14 Gene
chr17:41,582,279-41,586,895
(GRCh38/hg38)
Size:
4,617 bases
Orientation:
Minus strand
chr17:39,738,531-39,743,173
(GRCh37/hg19)
Size:
4,643 bases
Orientation:
Minus strand

Genomic View for KRT14 Gene

Genes around KRT14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT14 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KRT14 Gene

Proteins for KRT14 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KRT14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02533-K1C14_HUMAN
    Recommended name:
    Keratin, type I cytoskeletal 14
    Protein Accession:
    P02533
    Secondary Accessions:
    • Q14715
    • Q53XY3
    • Q9BUE3
    • Q9UBN2
    • Q9UBN3
    • Q9UCY4

    Protein attributes for KRT14 Gene

    Size:
    472 amino acids
    Molecular mass:
    51561 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins. disulfide-linked keratin-14 associates with keratin-5. Interacts with TRADD and with keratin filaments. Associates with other type I keratins. Interacts with EPPK1 (By similarity). Interacts with KLHL24 (PubMed:27798626).
    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 KRT14 Gene

neXtProt entry for KRT14 Gene

Protein Expression for KRT14 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for KRT14 Gene

  • A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage around the nucleus.
  • Ubiquitinated by the BCR(KLHL24) E3 ubiquitin ligase complex.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT14 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Assay Products

  • Boster Bio ELISA Kits for KRT14

No data available for DME Specific Peptides for KRT14 Gene

Domains & Families for KRT14 Gene

Gene Families for KRT14 Gene

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

Protein Domains for KRT14 Gene

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

Suggested Antigen Peptide Sequences for KRT14 Gene

GenScript: Design optimal peptide antigens:
  • Keratin-14 (K1C14_HUMAN)
  • Epidermal type I keratin (Q13092_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P02533

UniProtKB/Swiss-Prot:

K1C14_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT14: view

Function for KRT14 Gene

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  2. CRISPR
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  6. Cell Line

Molecular function for KRT14 Gene

UniProtKB/Swiss-Prot Function:
The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the mechanical properties involved in resilience of keratin intermediate filaments in vitro.
GENATLAS Biochemistry:
keratin 14,type I,basal layer,dimerizing with KRT5

Phenotypes From GWAS Catalog for KRT14 Gene

Gene Ontology (GO) - Molecular Function for KRT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005200 structural constituent of cytoskeleton TAS 7525408
GO:0005515 protein binding IPI 10852826
GO:1990254 keratin filament binding IPI 20346438
genes like me logo Genes that share ontologies with KRT14: view
genes like me logo Genes that share phenotypes with KRT14: view

Human Phenotype Ontology for KRT14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KRT14 Gene

MGI Knock Outs for KRT14:
  • Krt14 Krt14<tm1Efu>
  • Krt14 Krt14<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for KRT14 Gene

miRTarBase miRNAs that target KRT14

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT14

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for KRT14 Gene

Localization for KRT14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KRT14 Gene

Cytoplasm. Nucleus. Note=Expressed in both as a filamentous pattern.

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 KRT14 gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for KRT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 11724817
GO:0005737 cytoplasm IEA,IDA 11724817
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IDA 10852826
GO:0045095 keratin filament IDA 7679677
genes like me logo Genes that share ontologies with KRT14: view

Pathways & Interactions for KRT14 Gene

genes like me logo Genes that share pathways with KRT14: view

Pathways by source for KRT14 Gene

2 Reactome pathways for KRT14 Gene
1 GeneGo (Thomson Reuters) pathway for KRT14 Gene
  • Cytoskeleton remodeling Keratin filaments

SIGNOR curated interactions for KRT14 Gene

Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for KRT14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007568 aging IDA 21916889
GO:0008544 epidermis development TAS 7525408
GO:0010043 response to zinc ion IEA --
GO:0010212 response to ionizing radiation IEA --
GO:0030855 epithelial cell differentiation IEA --
genes like me logo Genes that share ontologies with KRT14: view

Drugs & Compounds for KRT14 Gene

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  1. Drug

(31) Drugs for KRT14 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0

(10) Additional Compounds for KRT14 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT14: view

Transcripts for KRT14 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KRT14 Gene

1 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
3 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 KRT14

Alternative Splicing Database (ASD) splice patterns (SP) for KRT14 Gene

No ASD Table

Relevant External Links for KRT14 Gene

GeneLoc Exon Structure for
KRT14

Expression for KRT14 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT14 Gene

mRNA expression in normal human tissues for KRT14 Gene
mRNA expression by BioGPS for KRT14 GenemRNA expression by GTEx for KRT14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT14 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x21.1), Skin - Sun Exposed (Lower leg) (x17.4), and Esophagus - Mucosa (x5.5).

Protein differential expression in normal tissues from HIPED for KRT14 Gene

This gene is overexpressed in Cerebrospinal fluid (13.9), Saliva (11.3), Pancreatic juice (7.3), and Hair follicle (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT14 Gene



Protein tissue co-expression partners for KRT14 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT14

SOURCE GeneReport for Unigene cluster for KRT14 Gene:

Hs.654380

mRNA Expression by UniProt/SwissProt for KRT14 Gene:

P02533-K1C14_HUMAN
Tissue specificity: Expressed in the corneal epithelium (at protein level) (PubMed:26758872). Detected in the basal layer, lowered within the more apically located layers specifically in the stratum spinosum, stratum granulosum but is not detected in stratum corneum. Strongly expressed in the outer root sheath of anagen follicles but not in the germinative matrix, inner root sheath or hair (PubMed:9457912). Found in keratinocytes surrounding the club hair during telogen (PubMed:9457912).

Evidence on tissue expression from TISSUES for KRT14 Gene

  • Skin(5)
  • Nervous system(5)
  • Blood(4.6)
  • Liver(4.5)
  • Pancreas(4.5)
  • Lung(3.8)
  • Eye(2.8)
  • Intestine(2.7)
  • Heart(2.7)
  • Kidney(2.6)
  • Muscle(2.5)
  • Thyroid gland(2.3)
  • Lymph node(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • scalp
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with KRT14: view

Orthologs for KRT14 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT14 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KRT14 30 31
  • 96.26 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KRT14 30 31
  • 93.11 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Krt14 30 17 31
  • 92.05 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KRT14 30 31
  • 91.71 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 89 (a)
 OneToMany
Rat
(Rattus norvegicus)
 Mammalia Krt14 30
  • 84.38 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 82 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves KRT14 31
  • 70 (a)
 ManyToMany
-- 31
  • 69 (a)
 ManyToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 67 (a)
 ManyToMany
-- 31
  • 67 (a)
 ManyToMany
Species where no ortholog for KRT14 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KRT14 Gene

ENSEMBL:
Gene Tree for KRT14 (if available)
TreeFam:
Gene Tree for KRT14 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT14: view image

Paralogs for KRT14 Gene

Paralogs for KRT14 Gene

(49) SIMAP similar genes for KRT14 Gene using alignment to 1 proteins:

  • K1C14_HUMAN

Pseudogenes.org Pseudogenes for KRT14 Gene

genes like me logo Genes that share paralogs with KRT14: view

Variants for KRT14 Gene

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  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT14 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
669378 Likely Benign: not provided 41,586,753(-) AGCCGCCCCCGAT/A INFRAME_DELETION
711995 Likely Benign: not provided 41,583,306(-) C/T SYNONYMOUS_VARIANT
713211 Benign: not provided 41,584,374(-) G/C SYNONYMOUS_VARIANT
721880 Benign: not provided 41,586,781(-) G/A SYNONYMOUS_VARIANT
722105 Benign: not provided 41,584,995(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for KRT14 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRT14 Gene

Variant ID Type Subtype PubMed ID
esv22954 CNV loss 19812545
esv2758690 CNV gain+loss 17122850
esv34903 CNV gain 17911159
esv3640590 CNV gain 21293372
nsv1146669 OTHER inversion 26484159
nsv2053 CNV insertion 18451855
nsv471400 CNV gain 19718026
nsv514846 CNV gain 21397061
nsv827992 CNV gain 20364138
nsv827993 CNV loss 20364138
nsv9556 CNV gain 18304495
nsv9557 CNV loss 18304495
nsv960490 CNV duplication 23825009

Variation tolerance for KRT14 Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.48; 88.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT14 Gene

Human Gene Mutation Database (HGMD)
KRT14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT14

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT14 Gene

Disorders for KRT14 Gene

MalaCards: The human disease database

(129) MalaCards diseases for KRT14 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search KRT14 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K1C14_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:10583131, ECO:0000269 PubMed:10730767, ECO:0000269 PubMed:10733662, ECO:0000269 PubMed:10820403, ECO:0000269 PubMed:11710919, ECO:0000269 PubMed:12603865, ECO:0000269 PubMed:12655565, ECO:0000269 PubMed:12707098, ECO:0000269 PubMed:14987259, ECO:0000269 PubMed:16786515, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:1717157, ECO:0000269 PubMed:7561171, ECO:0000269 PubMed:7688405, ECO:0000269 PubMed:8601736, ECO:0000269 PubMed:9804355, ECO:0000269 PubMed:9989794, ECO:0000269 Ref.33}. 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:10733662, ECO:0000269 PubMed:12603865, ECO:0000269 PubMed:12655565, ECO:0000269 PubMed:12707098, ECO:0000269 PubMed:14987259, ECO:0000269 PubMed:16786515, ECO:0000269 PubMed:16882168, ECO:0000269 PubMed:7506097, ECO:0000269 PubMed:7506606, ECO:0000269 PubMed:7561171, ECO:0000269 PubMed:9284105, ECO:0000269 PubMed:9804357, ECO:0000269 PubMed:9989794}. 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:10733662, ECO:0000269 PubMed:10820403, ECO:0000269 PubMed:11710919, ECO:0000269 PubMed:16786515, ECO:0000269 PubMed:1720261, ECO:0000269 PubMed:7526926, ECO:0000269 PubMed:7682883, ECO:0000269 PubMed:9989794, ECO:0000269 Ref.10, ECO:0000269 Ref.33}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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:7526933}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]: A rare autosomal dominant form of ectodermal dysplasia. The cardinal features are absence of dermatoglyphics (fingerprints), reticular cutaneous hyperpigmentation (starting at about the age of 2 years without a preceding inflammatory stage), palmoplantar keratoderma, hypohidrosis with diminished sweat gland function and discomfort provoked by heat, nail dystrophy, and tooth enamel defects. {ECO:0000269 PubMed:16960809}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dermatopathia pigmentosa reticularis (DPR) [MIM:125595]: A rare ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, non-cicatricial alopecia, and nail dystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis. {ECO:0000269 PubMed:16960809}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KRT14

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KRT14: view

No data available for Genatlas for KRT14 Gene

Publications for KRT14 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
  2. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. (PMID: 16786515) Müller FB … Arin MJ (Human mutation 2006) 3 4 23
  3. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. (PMID: 16960809) Lugassy J … Sprecher E (American journal of human genetics 2006) 3 4 23
  4. Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. (PMID: 14987259) Csikós M … Kárpáti S (Experimental dermatology 2004) 3 4 23
  5. Epidermolysis bullosa simplex in Israel: clinical and genetic features. (PMID: 12707098) Ciubotaru D … Sprecher E (Archives of dermatology 2003) 3 4 23

ExternalLinks

View latest publications for KRT14 gene in Mastermind

Products for KRT14 Gene

  • Addgene plasmids for KRT14

Sources for KRT14 Gene