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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KRT14 Gene

protein-coding GIFtS: 65
GCID: GC17M039738

keratin 14

(Previous names: keratin 14 (epidermolysis bullosa simplex, Dowling-Meara,...)
(Previous symbols: EBS3, EBS4)

Explore 106 diseases affiliated with
KRT14 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Keratin 14¹ ²		NFJ²
EBS3¹ ²		Cytokeratin 14²
EBS4¹ ²		Cytokeratin-14³
Keratin 14 (Epidermolysis Bullosa Simplex, Dowling-Meara, Koebner)¹ ²		Keratin, Type I Cytoskeletal 14²
CK-14² ³		Keratin-14³
K14² ³		Cytokeratin-14³
CK14²		Keratin-14³

External Ids:	HGNC: 6416¹	Entrez Gene: 3861²	Ensembl: ENSG00000186847⁷	OMIM: 148066⁵	UniProtKB: P02533³

Export aliases for KRT14 gene to outside databases

Previous GC identifers: GC17M038859 GC17P041732 GC17M039543 GC17M040111 GC17M036993 GC17M035501

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KRT14:

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)

UniProtKB/Swiss-Prot: K1C14_HUMAN, P02533

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

Gene Wiki entry for KRT14 (Keratin 14)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000017.10 NC_018928.1 NT_010783.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KRT14 gene promoter:
TBP Sp1 AP-2alpha isoform 3 AP-2alpha isoform 2 C/EBPalpha STAT3 AP-2alpha isoform 4 AP-2alpha AP-2alphaA
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KRT14 promoter sequence

Search SABiosciences Chromatin IP Primers for KRT14

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT14

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17q12-q21 Ensembl cytogenetic band: 17q21.2 HGNC cytogenetic band: 17q12-q21

KRT14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT14 gene location

GeneLoc information about chromosome 17 GeneLoc Exon Structure

GeneLoc location for GC17M039738: view genomic region (about GC identifiers)

Start:	39,738,531 bp from pter	End:	39,743,173 bp from pter
Size:	4,643 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: K1C14_HUMAN, P02533 (See protein sequence)

Recommended Name: Keratin, type I cytoskeletal 14

Size: 472 amino acids; 51561 Da

Subunit: 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

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

Miscellaneous: There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to

basic; 56-70 kDa)

1 PDB 3D structure from and Proteopedia for KRT14:

3TNU (3D)

Secondary accessions: Q14715 Q53XY3 Q9BUE3 Q9UBN2 Q9UBN3 Q9UCY4

Explore the universe of human proteins at neXtProt for KRT14: NX_P02533

Post-translational modifications:

A disulfide bond is formed between rather than within filaments and promotes the formation of a keratin filament cage

around the nucleus¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P02533

KRT14 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000517.2

ENSEMBL proteins:

ENSP00000167586

Reactome Protein details: P02533
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for KRT14
	Uscn Proteins for KRT14

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	--	--
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	--	--

KRT14 for ontologies About GeneDecksing

KRT14 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of KRT14
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	ThermoFisher Antibodies for KRT14

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	Uscn ELISAs and CLIAs for KRT14

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KRT14 for domains About GeneDecksing

5 InterPro domains/families:

IPR018039 Intermediate_filament_CS

IPR001664 IF

IPR002957 Keratin_I

IPR009053 Prefoldin

IPR016044 F

Graphical View of Domain Structure for InterPro Entry P02533

ProtoNet protein and cluster: P02533

2 Blocks protein families:

IPB001664 Intermediate filament protein

IPB002957 Type I keratin signature

UniProtKB/Swiss-Prot: K1C14_HUMAN, P02533

Similarity: Belongs to the intermediate filament family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: K1C14_HUMAN, P02533

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 entry for KRT14:

keratin 14,type I,basal layer,dimerizing with KRT5

miRNA Products:		OriGene 3'-UTR Clone: KRT14 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT14
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		Browse SwitchGear 3'UTR luciferase reporter plasmids

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KRT14 (see all 4) OriGene shRNA RFP: KRT14 OriGene siRNA: KRT14
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT14

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for KRT14

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT14

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005200	structural constituent of cytoskeleton	TAS	7525408
GO:0005515	protein binding	IPI	15731013

KRT14 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Krt14^tm1Efu for KRT14
     11 MGI mutant phenotypes (inferred from 6 alleles) (MGI details for Krt14):

cellular	digestive/alimentary	homeostasis/metabolism	immune system	integument
mortality/aging	pigmentation	reproductive system	respiratory system	tumorigenesis
vision/eye

KRT14 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Cytoskeleton remodeling Keratin filaments

Cytoskeleton remodeling Keratin filaments

1.00

Cytoskeleton remodeling_Keratin filaments

0.91

Cell-cell junction organization

Cell junction organization

0.69

Cell-Cell communication

0.45

Type I hemidesmosome assembly

Type I hemidesmosome assembly

1.00

Glucocorticoid receptor regulatory network

Glucocorticoid receptor regulatory network

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for KRT14

Cytoskeleton remodeling Keratin filaments

1 GeneGo (Thomson Reuters) Pathway for KRT14

Cytoskeleton remodeling Keratin filaments

1 BioSystems Pathway for KRT14

Glucocorticoid receptor regulatory network

3 Reactome Pathways for KRT14

	Type I hemidesmosome assembly
	Cell junction organization
	Cell-Cell communication

KRT14 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KRT14

STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

5/84 Interacting proteins for KRT14 (P02533³ ENSP00000167586⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 84)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TRADD	Q15628³, ENSP00000341268⁴	I2D: score=5 STRING: ENSP00000341268
APC	P25054³, ENSP00000257430⁴	I2D: score=3 STRING: ENSP00000257430
MDM2	Q00987³, ENSP00000417281⁴	I2D: score=1 STRING: ENSP00000417281
PTEN	P60484³, ENSP00000361021⁴	I2D: score=1 STRING: ENSP00000361021
KRT5	P13647³, ENSP00000252242⁴	I2D: score=2 STRING: ENSP00000252242

About this table

Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
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	--
GO:0031581	hemidesmosome assembly	TAS	--

KRT14 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KRT14 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KRT14
10/39 Novoseek chemical compound relationships for KRT14 gene (see all 39) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mucicarmine	47.4	2	11136565 (1), 11023104 (1)
progesterone	41.7	22	18536655 (1), 18715613 (1), 20340005 (1), 19479727 (1) (see all 20)
hpvs	39.4	2	11774168 (1)
calcipotriol	37.7	1	8615633 (1)
estrogen	37.2	18	18375895 (2), 18536655 (1), 18715613 (1), 20340005 (1) (see all 14)
hematoxylin	36.3	2	16679481 (1), 18305433 (1)
isotretinoin	34.1	3	7967513 (1), 10983416 (1)
retinoic acid	31.1	10	1711202 (1), 1284070 (1), 10983416 (1), 15482329 (1) (see all 6)
paraffin	29.8	2	19319956 (1), 17912630 (1)
retinoid	24.4	1	1376755 (1)

Search CenterWatch for drugs/clinical trials and news about KRT14 / K1C14

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KRT14 gene:

NM_000526.4

Unigene Cluster for KRT14:

Keratin 14

Hs.654380 [show with all ESTs]

Unigene Representative Sequence: BC042437

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000167586(uc002hxf.2) ENST00000441550 ENST00000476662

miRNA Products:		OriGene 3'-UTR Clone: KRT14 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT14
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT14

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT14

Additional cDNA sequence:

AK309280.1 BC002690.2 BC019097.2 BC042437.1 BC094830.1 BT007186.1 M28646.1

24/83 DOTS entries (see all 83):

DT.95164414 DT.91778104 DT.120985815 DT.91668763 DT.100798829 DT.97841180 DT.92339664 DT.120986157

DT.100798819 DT.120985939 DT.95164370 DT.97841197 DT.86843680 DT.100798830 DT.91849837 DT.120986284

DT.95206028 DT.120986429 DT.92397656 DT.95211715 DT.97841204 DT.100798837 DT.120986418 DT.91778130

24/659 AceView cDNA sequences (see all 659):

BF149184 BG743329 H46592 AA586986 BG740800 CR613487 BM910160 CR621301

CA432895 BG680252 BU683797 BC000159 BG682253 CR608685 CR605895 CR615020

CR598735 CR618580 BG682283 BQ315603 BQ376870 BG676308 CA433474 CB127326

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KRT14 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GATGTGCACG

About this image

KRT14 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Respiratory Bronchioles

Basal Cells

Lung

Trachea

Basal Cells

Lung

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

GABA neuron-like cells (Generation of motor ...)

Brain

HyStem+TGF?3+GDF5-induced E15 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

See KRT14 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KRT14

SOURCE GeneReport for Unigene cluster: Hs.654380

UniProtKB/Swiss-Prot: K1C14_HUMAN, P02533

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

SABiosciences Expression via Pathway-Focused PCR Arrays including KRT14 (see all 6):

Notch Signaling Targets in human mouse rat

Lung Cancer in human mouse rat

Cell Lineage Identification in human mouse rat

Terminal Differentiation Markers in human mouse rat

Cancer PathwayFinder in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT14

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT14

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for KRT14 gene from 4/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KRT14¹	keratin 14	77.02(n) 72.21(a)		408039 NM_001001311.2 NP_001001311.2
lizard (Anolis carolinensis)	Reptilia	-- --	--	67(a) 65(a)	many ↔ many many ↔ many	6(70844971-70856046) 6(70865556-70875342)
African clawed frog (Xenopus laevis)	Amphibia	BC042927.1²	--	74.37(n)		BC042927.1
zebrafish (Danio rerio)	Actinopterygii	cyt1⁶ krt17⁶ (see all 15)	keratin 17 (see all 15)	52(a) 52(a) (see all 15)	many ↔ many many ↔ many (see all 15)	19(5986623-5988852) 19(5991533-5996775)

ENSEMBL Gene Tree for KRT14 (if available)
TreeFam Gene Tree for KRT14 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KRT14 gene

KRT17² KRT13² KRT16² KRT26² KRT10² KRT12² KRT18² KRT25²

KRT27² KRT15² KRT20² KRT24² KRT19² KRT9² KRT28² KRT23²

18/49 SIMAP similar genes for KRT14 using alignment to 1 protein entry: K1C14_HUMAN(see all similar genes):

K14 KRT16 GUCA1B keratin KRT15 JUP

KRT13 KRT33A KRT34 KRT10 KRT17 KRT20

KRT31 KRT33B KRT40 KRT9 KRT32 KRT39

KRT14 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for KRT14
PGOHUM00000236938 PGOHUM00000237076

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 17 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs60831116^1,2	C,	pathogenic	35599578(-)	`TCCTGA/C/TGGCAT`	3	* C	stg¹ syn¹		0	--	--	--	--
rs28928893^1,2	C	pathogenic	35599880(-)	`GACCAT/CGCAGA`	2	/T /M	mis¹ ese³		1		NA	2
rs57358989^1,2	C	pathogenic	35599881(-)	`ACCATA/GCAGAA`	2	I M	mis¹		0	--	--	--	--
rs60171927^1,2	C	pathogenic	35599892(-)	`CCTCAA/GTGACC`	2	N S	mis¹		0	--	--	--	--
rs60399023^1,2	C	pathogenic	35599897(-)	`ATGACC/G/TGCCTG`	3	R G C	mis¹		0	--	--	--	--
rs57121345^1,2	C	pathogenic	35599955(-)	`CCTGGA/CAGTGA`	2	E A	mis¹		0	--	--	--	--
rs60725382^1,2	C	pathogenic	35601949(-)	`AGGTAA/TGAGAC`	2	* Y	stg¹		0	--	--	--	--
rs61371557^1,2	C,	pathogenic	35602473(-)	`GGAGAC/G/TGGACG`	3	T R M	mis¹		0	--	--	--	--
rs58380626^1,2	C,	pathogenic	35603079(-)	`CCACCC/TACCGC`	2	H Y	mis¹		0	--	--	--	--
rs57364972^1,2	C,	pathogenic	35603092(-)	`CCTGCA/TGGAGG`	2	Q L	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KRT14 (39738531 - 39743173 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for KRT14
10 CNVs: 72934 35458 88474 8845 32180 88473 4036 77610 3145 77611
1 Indel: 72935
Human Gene Mutation Database (HGMD): KRT14

SABiosciences Cancer Mutation PCR Assays

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

KRT14 for disorders           About GeneDecksing

OMIM gene information: 148066
OMIM disorders: 131760  131900  601001  161000  125595  131800
UniProtKB/Swiss-Prot: K1C14_HUMAN, P02533

Defects in KRT14 are a cause of epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]. DM-EBS

is a severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia

formation, dystrophic nails, and mucous membrane involvement

Defects in KRT14 are a cause of epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800].

WC-EBS is a form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar

areas of the skin

Defects in KRT14 are a cause of epidermolysis bullosa simplex Koebner type (K-EBS) [MIM:131900]. K-EBS is 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

Defects in KRT14 are the cause of epidermolysis bullosa simplex autosomal recessive (AREBS) [MIM:601001].

AREBS is an intraepidermal epidermolysis bullosa characterized by localized blistering on the dorsal, lateral and

plantar surfaces of the feet

Defects in KRT14 are the cause of Naegeli-Franceschetti-Jadassohn syndrome (NFJS) [MIM:161000]; also known as

Naegeli syndrome. NFJS is 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

Defects in KRT14 are the cause of dermatopathia pigmentosa reticularis (DPR) [MIM:125595]. DPR is a rare

ectodermal dysplasia characterized by lifelong persistent reticulate hyperpigmentation, noncicatricial alopecia, and

nail dystrophy

20/106 diseases for KRT14 (see all 106): About MalaCards

epidermolysis bullosa simplex epidermolysis bullosa epidermolysis bullosa simplex, dowling-meara type naegeli-franceschetti-jadassohn syndrome

dermatopathia pigmentosa reticularis epidermolysis bullosa simplex with mottled pigmentation epidermolysis bullosa simplex, recessive epidermolytic palmoplantar keratoderma

spinal cord injury junctional epidermolysis bullosa sweat gland neoplasm epithelial-myoepithelial carcinoma

ichthyosis vulgaris hidradenitis suppurativa squamous cell carcinoma molluscum contagiosum

sweat gland carcinoma lichen planus oral lichen planus basaloid squamous cell carcinoma

10 diseases from the University of Copenhagen DISEASES database for KRT14:

Epidermolysis bullosa simplex Carcinoma Breast cancer Papilloma

Myoepithelioma Thyroid hurthle cell adenoma Ductal carcinoma in situ Skin cancer

epithelial-myoepithelial carcinoma Syringoma

10/84 Novoseek disease relationships for KRT14 gene (see all 84) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
epidermolysis bullosa simplex	96.2	80	10733662 (3), 12655565 (2), 7526933 (2), 11356849 (2) (see all 64)
epidermolysis bullosa simplex, dowling-meara type	73.2	3	1721080 (1), 16439965 (1)
epidermolysis bullosa	71.5	4	8435522 (1), 7537032 (1), 17476356 (1), 18713255 (1)
myoepithelioma	70	3	7542546 (2), 12610349 (1)
skin diseases genetic	62.8	1	17476356 (1)
carcinoma	62.6	38	11859206 (5), 9833698 (3), 10534158 (2), 12207786 (1) (see all 22)
hyperkeratosis	60.8	6	9804355 (2), 14987259 (1), 16356392 (1)
carcinoma ductal	58.9	10	1384227 (2), 17522367 (1), 12884041 (1), 10680887 (1) (see all 8)
papilloma	56.3	14	16698948 (3), 16990761 (1), 9614560 (1), 9754566 (1)
carcinoma squamous cell	55.8	20	11454039 (3), 18067814 (2), 16273259 (2), 15313863 (1) (see all 14)

GeneTests: KRT14

Epidermolysis Bullosa Simplex

Human Genome Epidemiology (HuGE) Navigator: KRT14 (2 documents)

Export disorders for KRT14 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for KRT14 gene, integrated from 9 sources (see all 605):
(articles sorted by number of sources associating them with KRT14)

Utopia: connect your pdf to the dynamic
world of online information

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. (PubMed id 1717157)^{1, 2, 3} Coulombe P.A....Fuchs E. (1991)
Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot analysis. (PubMed id 10733662)^{1, 2, 9} Hut P.H.L.... Scheffer H. (2000)
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. (PubMed id 12655565)^{1, 2, 9} Schuilenga-Hut P.H.L.... Scheffer H. (2003)
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. (PubMed id 16960809)^{1, 2, 9} Lugassy J.... Sprecher E. (2006)
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (PubMed id 16882168)^{1, 2, 9} Yasukawa K....Shimizu H. (2006)
Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. (PubMed id 9989794)^{1, 2, 9} Soerensen C.B.... Gregersen N. (1999)
Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. (PubMed id 16786515)^{1, 2, 9} Mueller F.B.... Arin M.J. (2006)
Epidermolysis bullosa simplex in Israel: clinical and genetic features. (PubMed id 12707098)^{1, 2, 9} Ciubotaru D.... Sprecher E. (2003)
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. (PubMed id 7526933)^{1, 2, 9} Hovnanian A....Goossens M. (1993)
Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. (PubMed id 14987259)^{1, 2, 9} Csikos M....Karpati S. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3861	HGNC: 6416	AceView: KRT17andKRT14andKRT16	Ensembl:ENSG00000186847	euGenes: HUgn3861
ECgene: KRT14	H-InvDB: KRT14

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KRT14	Pharmacogenomics, SNPs, Pathways
Human Intermediate Filament Mutation Database	http://www.interfil.org
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT14

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keratin 14

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KRT14 Gene

keratin 14

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