Aliases for KRT14 Gene
Aliases for KRT14 Gene
External Ids for KRT14 Gene
- HGNC: 6416
- Entrez Gene: 3861
- Ensembl: ENSG00000186847
- OMIM: 148066
- UniProtKB: 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, Dowling-Meara Type and Epidermolysis Bullosa Simplex, Autosomal Recessive 1. Among its related pathways are Glucocorticoid receptor regulatory network and Keratinization. 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 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
- Monarch Initiative
- Search for KRT14 at DataMed
- Search for KRT14 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT14 Gene
Genomics for KRT14 Gene
GeneHancer (GH) Regulatory Elements for KRT14 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KRT14 gene promoter:
-
- STAT3
- TBP
- AP-2alpha
- AP-2alpha isoform 2
- AP-2alpha isoform 3
- AP-2alpha isoform 4
- AP-2alphaA
- C/EBPalpha
- Sp1
Regulatory Element Products
Genomic Locations for KRT14 Gene
Genomic Locations for KRT14 Gene
- chr17:41,582,279-41,586,921
- (GRCh38/hg38)
- Size:
- 4,643 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:
-
- 17q21.2 by Entrez Gene
- 17q21.2 by HGNC
- 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:
Antibody Products
- R&D Systems Antibodies for KRT14 (Cytokeratin 14)
-
Custom Antibody ServicesOriGene Antibodies for KRT14
- Novus Biologicals Antibodies for KRT14
-
Abcam antibodies for KRT14
- Invitrogen Antibodies for KRT14
- GeneTex KRT14 Antibody for KRT14
-
Santa Cruz Biotechnology (SCBT) Antibodies for KRT14
- Sino Biological Antibodies for KRT14
Protein Products
-
OriGene Purified Proteins for KRT14
- Search Origene for MassSpec and Protein Over-expression Lysates for KRT14
- Origene Custom Protein Services for KRT14
- ProSpec Recombinant Proteins for KRT14
- Search GeneTex for Proteins for KRT14
-
Abcam proteins for KRT14
Assay Products
- antibodies-online: Search results for 5 available KRT14 Elisa Kits ranked by validation data
- Compare Top KRT14 Elisa Kits
-
Quality Products:
-
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KRT14 Gene
- GenScript: Design optimal peptide antigens:
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| 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 6 alleles
- respiratory system phenotype
- pigmentation phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- neoplasm
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- craniofacial phenotype
- reproductive system phenotype
- hearing/vestibular/ear phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for KRT14:
Animal Models for KRT14 Gene
- MGI Knock Outs for KRT14:
-
- Krt14 Krt14<tm1Efu>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for KRT14
-
CRISPR Products
-
OriGene CRISPR knockouts for KRT14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KRT14
- genomics-online: gRNA clones - Search results for available KRT14 gene related products
- Applied Biological Materials CRISPR for KRT14
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRT14
- GenScript: Design CRISPR guide RNA sequences for KRT14
miRNA for KRT14 Gene
- miRTarBase miRNAs that target KRT14
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available KRT14 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KRT14
- VectorBuilder custom plasmid, inducible vectors for KRT14
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KRT14
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for KRT14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRT14
- genomics-online: cdna clones - Search results for available KRT14 gene related products
- orf clones - Search results for available KRT14 gene related products
- Applied Biological Materials Clones for KRT14
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KRT14
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 | 1 |
| mitochondrion | 1 |
| endoplasmic reticulum | 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 | Circadian entrainment | ||
| 2 | Developmental Biology | ||
| 3 | Keratinization |
.33
|
|
| 4 | Cytoskeleton remodeling Neurofilaments | ||
| 5 | Corticotropin-releasing hormone signaling pathway | ||
Pathways by source for KRT14 Gene
2 BioSystems pathways for KRT14 Gene
2 Reactome pathways for KRT14 Gene
1 KEGG pathway for KRT14 Gene
1 GeneGo (Thomson Reuters) pathway for KRT14 Gene
Interacting Proteins for KRT14 Gene
Selected Interacting proteins:
ENSP00000167586
P02533-K1C14_HUMAN
for KRT14 Gene via
STRING
MINT
IID
UniProtKB
GPS-Prot Interaction Network for KRT14
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007568 | aging | IDA | 21916889 |
| GO:0008544 | epidermis development | TAS | 7525408 |
| GO:0031424 | keratinization | TAS | -- |
| GO:0031581 | hemidesmosome assembly | TAS | -- |
| GO:0042633 | hair cycle | IDA | 21916889 |
No data available for SIGNOR curated interactions for KRT14 Gene
Drugs & Compounds for KRT14 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Zinc | Approved, Investigational | Pharma | Target | 2430 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
|---|
Drug Products
Transcripts for KRT14 Gene
mRNA/cDNA for KRT14 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (659) Selected AceView cDNA sequences:
- (3) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000167586 1662 bps (uc002hxf.3)
- ENST00000441550 1053 bps (uc060fby.1)
- ENST00000476662 710 bps (uc060fbz.1)
CRISPR Products
-
OriGene CRISPR knockouts for KRT14
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KRT14
- genomics-online: gRNA clones - Search results for available KRT14 gene related products
- Applied Biological Materials CRISPR for KRT14
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KRT14
- GenScript: Design CRISPR guide RNA sequences for KRT14
miRNA Products
Inhibitory RNA Products
- 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
- genomics-online: shRNA clones - Search results for available KRT14 gene related products
Clone Products
- Sino Biological Human cDNA Clone for KRT14
- VectorBuilder custom plasmid, inducible vectors for KRT14
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KRT14
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for KRT14
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KRT14
- genomics-online: cdna clones - Search results for available KRT14 gene related products
- orf clones - Search results for available KRT14 gene related products
- Applied Biological Materials Clones for KRT14
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
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
- Full-thickness skin substitutes
-
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
NURSA nuclear receptor signaling pathways regulating expression of KRT14 Gene:
KRT14SOURCE GeneReport for Unigene cluster for KRT14 Gene:
Hs.654380mRNA Expression by UniProt/SwissProt for KRT14 Gene:
P02533-K1C14_HUMAN
Tissue specificity:
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. Found in keratinocytes surrounding the club hair during telogen.
Evidence on tissue expression from TISSUES for KRT14 Gene
- Skin(5)
- Nervous system(5)
- Liver(4.4)
- Pancreas(4.2)
- Lung(3.6)
- Eye(2.4)
- Blood(2.2)
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
-
OriGene qPCR primer pairs and template standards for KRT14
-
OriGene qPCR primer pairs for KRT14
- genomics-online: primer clones - Search results for available KRT14 gene related products
Gene Expression Assay Products
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 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KRT14 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Krt14 16 34 33 |
|
||
| cow (Bos Taurus) |
Mammalia | KRT14 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 34 |
|
OneToMany | |
| rat (Rattus norvegicus) |
Mammalia | Krt14 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 34 |
|
OneToMany | |
| chicken (Gallus gallus) |
Aves | KRT14 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
| -- 34 |
|
ManyToMany |
- Species where no ortholog for KRT14 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)
- 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)
- 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
- 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
| SNP ID | Clin | Chr 17 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs11551758 | not-provided, benign, not provided, not specified | 41,586,646(-) | G/A | coding_sequence_variant, synonymous_variant | |
| rs147611635 | Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900] | 41,584,282(-) | G/T | coding_sequence_variant, missense_variant | |
| rs2001185 | not-provided, benign, not provided, not specified | 41,582,545(-) | T/C/G | intron_variant | |
| rs28928893 | pathogenic, not-provided, Epidermolysis bullosa herpetiformis, Dowling-Meara, not provided, Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760] | 41,586,479(-) | A/G | coding_sequence_variant, missense_variant | |
| rs3826549 | not-provided, benign, not provided, not specified, Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760] | 41,586,466(-) | A/G/T | coding_sequence_variant, missense_variant, synonymous_variant |
| 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 Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT14 Gene
Disorders for KRT14 Gene
(77) MalaCards diseases for KRT14 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| epidermolysis bullosa simplex, dowling-meara type |
|
|
| epidermolysis bullosa simplex, autosomal recessive 1 |
|
|
| dermatopathia pigmentosa reticularis |
|
|
| naegeli-franceschetti-jadassohn syndrome |
|
|
| 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.31}. 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.31}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Epidermolysis bullosa simplex, autosomal recessive 1 (EBSB1) [MIM:601001]: An intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and plantar surfaces of the feet. {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
No data available for Genatlas for KRT14 Gene
Publications for KRT14 Gene
- 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 22 58
- 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 58
- Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. (PMID: 14987259) Csikós M … Kárpáti S (Experimental dermatology 2004) 3 4 22 58
- 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 PH … Scheffer H (Human mutation 2003) 3 4 22 58
- Epidermolysis bullosa simplex in Israel: clinical and genetic features. (PMID: 12707098) Ciubotaru D … Sprecher E (Archives of dermatology 2003) 3 4 22 58
Products for KRT14 Gene
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- Mammalian expression: PiggyBac
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- Addgene plasmids for KRT14
- antibodies-online: Search results for 314 available KRT14 Antibodies ranked by validation data
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- antibodies-online: Search results for 17 available KRT14 Proteins ranked by validation data
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- GeneTex KRT14 Antibody for KRT14
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- Horizon Cell Lines for KRT14
- genomics-online: cdna clones - Search results for available KRT14 gene related products
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- Browse GeneCopoeia Cell Lines
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Sources for KRT14 Gene
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