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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
External Ids for KRT14 Gene
- HGNC: 6416
- NCBI Entrez Gene: 3861
- Ensembl: ENSG00000186847
- OMIM®: 148066
- UniProtKB/Swiss-Prot: P02533
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
-
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, Autosomal Recessive 1 and Naegeli-Franceschetti-Jadassohn Syndrome. Among its related pathways are Corticotropin-releasing hormone signaling pathway and Cytoskeleton remodeling Neurofilaments. 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.
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
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
Latest Assembly
- chr17:41,582,279-41,586,895
- (GRCh38/hg38)
- Size:
- 4,617 bases
- Orientation:
- Minus strand
Previous Assembly
- chr17:39,738,531-39,743,147
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 4,617 bases
- Orientation:
- Minus strand
Genomic View for KRT14 Gene
Genes around KRT14 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q21.2 by HGNC
- 17q21.2 by Entrez Gene
- 17q21.2 by Ensembl
KRT14 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KRT14 Gene
Proteins for KRT14 Gene
-
Protein details for KRT14 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P02533-K1C14_HUMAN
- Recommended name:
- Keratin, type I cytoskeletal 14
- Protein Accession:
- P02533
- 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).
Protein Expression for KRT14 Gene
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:
Antibodies for research
- LifeSpan BioSciences KRT14 / CK14 / Cytokeratin 14 Monoclonal Antibody and KRT14 / CK14 / Cytokeratin 14 Antibody
- NSJ Bioreagents Cytokeratin 14 Antibody (Mouse Monoclonal)
-
Custom Antibody ServicesOriGene Antibodies for KRT14
- AM05292PU-N
- AM05292SU-N
- AM08402PU-N
- AM50130PU-S
- AM50130PU-T
- AP06195PU-N
- AP17528PU-N
- AP20622PU-N
- AP31048PU-N
- BM5048P
- BP5009
- CF801254
- CF803190
- CF803267
- DM3066P
- SM1359
- SM1359F
- SM1359P
- SM1359PT
- TA323634
- TA323635
- TA327662
- TA330018
- TA347767
- TA353289L
- TA354224
- TA354347
- TA801254
- TA801254S
- TA803190
- TA803190S
- TA803267
- TA803267S
- Novus Biologicals Antibodies for KRT14
-
Abcam antibodies for KRT14
- Invitrogen Antibodies for KRT14 (AFLGC-KRT14)
-
Santa Cruz Biotechnology (SCBT) Antibodies for KRT14
- Sino Biological Antibodies for KRT14
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for KRT14
- Origene Custom Protein Services for KRT14
- Novus Biologicals proteins for KRT14
- ProSpec Recombinant Proteins for KRT14
-
Abcam proteins for KRT14
Assay products for research
- antibodies-online: Show 6 available KRT14 Elisa Kits ranked by validation data
- Compare Top KRT14 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for KRT14
-
Abcam assays 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
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- Family:
-
- Belongs to the intermediate filament family.
Function for KRT14 Gene
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
| 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 |
Phenotypes for KRT14 Gene
- MGI mutant phenotypes for KRT14:
-
inferred from 7 alleles
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- immune system phenotype
- respiratory system phenotype
- mortality/aging
- hematopoietic system phenotype
- neoplasm
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- pigmentation phenotype
- craniofacial phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for KRT14:
Animal Models for KRT14 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KRT14 - Starting at $85 >
- * KRT14 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KRT14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KRT14
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRT14
miRNA for KRT14 Gene
- miRTarBase miRNAs that target KRT14
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KRT14
- Browse OriGene Inhibitory RNA Products For KRT14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT14
Clone products for research
- Applied Biological Materials (abm): Clones for KRT14 - Starting at $45 >
- * KRT14 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KRT14
- Addgene plasmids for KRT14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRT14
Cell Lines for research
-
Horizon Cell Lines 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.
| 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 |
- Intermediate filaments (4)
| 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 |
Pathways & Interactions for KRT14 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Relaxin signaling pathway | ||
| 2 | Staphylococcus aureus infection | ||
| 3 | Developmental Biology | ||
| 4 | Keratinization |
.33
|
|
| 5 | Cytoskeleton remodeling Neurofilaments |
Cytoskeleton remodeling Keratin filaments
.32
|
|
Pathways by source for KRT14 Gene
2 BioSystems pathways for KRT14 Gene
2 Reactome pathways for KRT14 Gene
2 KEGG pathways for KRT14 Gene
1 GeneGo (Thomson Reuters) pathway for KRT14 Gene
- Cytoskeleton remodeling Keratin filaments
Interacting Proteins for KRT14 Gene
Selected Interacting proteins:
P02533-K1C14_HUMAN
ENSP00000167586
for KRT14 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for KRT14
SIGNOR curated interactions 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 | -- |
Transcripts for KRT14 Gene
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 :
-
- ENST00000167586 1636 nts (view in UCSC)
- ENST00000441550 1053 nts (view in UCSC)
- ENST00000476662 710 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for KRT14 - Starting at $85 >
- * KRT14 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for KRT14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KRT14
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRT14
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KRT14
- Browse OriGene Inhibitory RNA Products For KRT14
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT14
Clone products for research
- Applied Biological Materials (abm): Clones for KRT14 - Starting at $45 >
- * KRT14 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for KRT14
- Addgene plasmids for KRT14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRT14
Relevant External Links for KRT14 Gene
- GeneLoc Exon Structure for
- KRT14
Expression for KRT14 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
- Conjunctival Basal Epithelial Cells Conjunctival Epithelium
- Basal Cells Trachea
- Dental Placode Cells Dental Placode
- Basal Cells Respiratory Bronchioles
-
Epidermis (Integumentary System)
- Outer Root Sheath Progenitor Cells Embryonic Epidermis
- Surface Ectoderm Cells Surface Ectoderm
- Basal Keratinocytes Embryonic Epidermis
- Stratified Epidermis
- Human EpiDermal Keratinocytes (HEK)
-
Hair (Integumentary System)
- Sebocyte Progenitor Cells Sebaceous Gland
- Outer Root Sheath Cells Outer Root Sheath
- Early Sebocytes Sebaceous Gland
- Bulge Stem Cells Bulge
- Outer Root Sheath Progenitor Cells Embryonic Epidermis
-
Eye (Sensory Organs)
- Conjunctival Basal Epithelial Cells Conjunctival Epithelium
- Limbal Basal Epithelial Cells Limbus Epithelium
- Fetal Corneal Basal Epithelial Cells Corneal Epithelium
- Adult Corneal Basal Epithelial Cells Corneal Epithelium
- Limbal Superbasal Epithelial Cells Limbus Epithelium
- NULL (Sensory Organs)
-
Lung (Respiratory System)
- Basal Cells Trachea
- Basal Cells Respiratory Bronchioles
-
Ectoderm (Gastrulation Derivatives)
- Surface Ectoderm Cells Surface Ectoderm
- Activin-induced cells(Lu K 2013)
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
-
Heart (Cardiovascular System)
- Atrioventricular Canal Cells Atrioventricular Canal
-
Surface Ectoderm (Integumentary System)
- Surface Ectoderm Cells Surface Ectoderm
- Esophagus
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
-
Tonsil (Hematopoietic System)
-
Larynx (Respiratory System)
-
Breast (Uncategorized)
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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT14
SOURCE GeneReport for Unigene cluster for KRT14 Gene:
Hs.654380mRNA 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(4.5)
- Liver(4.5)
- Pancreas(4.4)
- Lung(3.7)
- Eye(2.7)
- Intestine(2.6)
- Heart(2.5)
- Kidney(2.5)
- Muscle(2.2)
- Thyroid gland(2.1)
- Lymph node(2)
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
Primer products for research
-
OriGene qPCR primer pairs for KRT14
-
OriGene qPCR primer pairs and template standards for KRT14
Gene Expression Assays for research
Orthologs for KRT14 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | KRT14 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | KRT14 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Krt14 29 16 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | KRT14 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| Rat (Rattus norvegicus) |
Mammalia | Krt14 29 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | -- 30 |
|
OneToMany | |
| Chicken (Gallus gallus) |
Aves | KRT14 30 |
|
ManyToMany | |
| -- 30 |
|
ManyToMany | |||
| Lizard (Anolis carolinensis) |
Reptilia | -- 30 |
|
ManyToMany | |
| -- 30 |
|
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
- Alliance of Genome Resources:
- Additional Orthologs for KRT14
Paralogs for KRT14 Gene
Paralogs for KRT14 Gene
- KRT16 5
- KRT17 5
- KRT15 5
- KRT10 5
- KRT13 5
- KRT12 5
- KRT19 5
- KRT24 5
- KRT9 5
- KRT27 5
- KRT28 5
- KRT36 5
- KRT25 5
- KRT26 5
- KRT20 5
- KRT33A 5
- KRT31 5
- KRT32 5
- KRT35 5
- KRT33B 5
- KRT18 5
- KRT34 5
- KRT39 5
- KRT40 5
- KRT38 5
- KRT23 5
- KRT37 5
- KRT5 5
- KRT6B 5
- KRT6C 5
- KRT6A 5
- KRT75 5
- KRT76 5
- KRT3 5
- KRT4 5
- KRT8 5
- DES 5
- KRT84 5
- KRT1 5
- KRT79 5
- GFAP 5
- VIM 5
- NEFL 5
- KRT2 5
- KRT77 5
- NEFM 5
- PRPH 5
- INA 5
- KRT85 5
- KRT71 5
- KRT74 5
- KRT73 5
- LMNB1 5
- KRT7 5
- KRT86 5
- KRT81 5
- KRT72 5
- KRT78 5
- LMNA 5
- LMNB2 5
- KRT83 5
- KRT82 5
- BFSP2 5
- KRT80 5
- SYNM 5
- NES 5
- LMNTD1 5
- ENSG00000264058 5
- KRT222 5
(49) SIMAP similar genes for KRT14 Gene using alignment to 1 proteins:
- K1C14_HUMAN
- K14
- KRT16
- keratin
- GUCA1B
- KRT15
- JUP
- KRT13
- KRT33A
- KRT34
- KRT40
- KRT33B
- KRT31
- KRT20
- KRT17
- KRT10
- KRT9
- KRT39
- KRT32
- KRT35
- KRT19
- KRT18
- KRT12
- type I hair keratin
- KRTHA7
- KRT38
- KRT37
- KRT28
- KRT27
- KRT26
- KRT25
- KRT24
- FLJ40504
- KRT36
- KRT23
- KRT7
- KRT5
- DKFZp761K0922
- VIM
- GFAP
- DES
- NEFM
- KRT1
- BFSP2
- PRPH
- INA
- KRT8
- tmp_locus_29
- KRT4
- KRT77
Pseudogenes.org Pseudogenes for KRT14 Gene
Variants for KRT14 Gene
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 |
|---|---|---|---|---|---|
| 1013388 | Uncertain Significance: not provided | 41,585,017(-) |
T/C NM_000526.5(KRT14):c.566A>G (p.Gln189Arg) |
MISSENSE | |
| 1034249 | Pathogenic: Dermatopathia pigmentosa reticularis | 41,583,127(-) |
G/A NM_000526.5(KRT14):c.1288C>T (p.Gln430Ter) |
NONSENSE | |
| 1048024 | Pathogenic: Epidermolysis bullosa simplex | 41,583,365(-) |
C/A NM_000526.5(KRT14):c.1144G>T (p.Glu382Ter) |
NONSENSE | |
| 1048025 | Pathogenic: Epidermolysis bullosa simplex | 41,583,304(-) |
A/C NM_000526.5(KRT14):c.1205T>G (p.Leu402Arg) |
MISSENSE | |
| 1048026 | Pathogenic: Epidermolysis bullosa simplex | 41,583,286(-) |
A/T NM_000526.5(KRT14):c.1223T>A (p.Leu408Gln) |
MISSENSE |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT14 Gene
Disorders for KRT14 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epidermolysis bullosa simplex, autosomal recessive 1 |
|
|
| naegeli-franceschetti-jadassohn syndrome |
|
|
| dermatopathia pigmentosa reticularis |
|
|
| epidermolysis bullosa simplex, dowling-meara type |
|
|
| epidermolysis bullosa simplex, generalized |
|
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 variants 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 variants 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 variants 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 variants 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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for KRT14
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for KRT14 Gene
Publications for KRT14 Gene
- 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 22 72
- Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). (PMID: 9804355) Shemanko CS … Eady RA (The Journal of investigative dermatology 1998) 3 4 22 72
- A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. (PMID: 7526933) Hovnanian A … Goossens M (Nature genetics 1993) 3 4 22 72
- Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. (PMID: 1720261) Bonifas JM … Epstein EH (Science (New York, N.Y.) 1991) 3 4 22 72
- The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation. (PMID: 20151404) Löffek S … Magin TM (Human mutation 2010) 3 22 72
ExternalLinks
Products for KRT14 Gene
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Sources for KRT14 Gene
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