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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KRT5 Gene

protein-coding GIFtS: 66
GCID: GC12M052908

keratin 5

(Previous names: epidermolysis bullosa simplex 2 Dowling-Meara/Kobner/Weber-Cockayne...)
(Previous symbol: EBS2)

Explore 65 diseases affiliated with
KRT5 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 5¹ ²		K5² ³
EBS2¹ ²		DDD² ⁵
KRT5A¹ ²		CK5²
Epidermolysis Bullosa Simplex 2 Dowling-Meara/Kobner/Weber-Cockayne Types¹ ²		Cytokeratin-5³
Keratin 5 (Epidermolysis Bullosa Simplex, Dowling-Meara/Kobner/Weber-Cockayne Types)¹ ²		Keratin, Type II Cytoskeletal 5²
58 KDa Cytokeratin² ³		Cytokeratin-5³
Type-II Keratin Kb5² ³		Keratin-5³
CK-5² ³

External Ids:	HGNC: 6442¹	Entrez Gene: 3852²	Ensembl: ENSG00000186081⁷	OMIM: 148040⁵	UniProtKB: P13647³

Export aliases for KRT5 gene to outside databases

Previous GC identifers: GC12M052976 GC12M052938 GC12M052625 GC12M051194 GC12M049953

(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 KRT5:

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or

neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of

simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the basal layer of the

epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed

epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. (provided

by RefSeq, Jul 2008)

Gene Wiki entry for KRT5 (Keratin 5)

(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_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KRT5 gene promoter:
AP-1 p53 COMP1 NRSF form 1 ATF-2 c-Jun NRSF form 2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KRT5 promoter sequence

Search SABiosciences Chromatin IP Primers for KRT5

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KRT5

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

Entrez Gene cytogenetic band: 12q13.13 Ensembl cytogenetic band: 12q13.13 HGNC cytogenetic band: 12q13.13

KRT5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KRT5 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M052908: view genomic region (about GC identifiers)

Start:	52,908,359 bp from pter	End:	52,914,471 bp from pter
Size:	6,113 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: K2C5_HUMAN, P13647 (See protein sequence)

Recommended Name: Keratin, type II cytoskeletal 5

Size: 590 amino acids; 62378 Da

Subunit: Heterotetramer of two type I and two type II keratins. Keratin-5 associates with keratin-14. Interacts with

TCHP

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 KRT5:

3TNU (3D)

Secondary accessions: Q6PI71 Q6UBJ0 Q8TA91

Explore the universe of human proteins at neXtProt for KRT5: NX_P13647

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P13647

KRT5 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000415.2

ENSEMBL proteins:

ENSP00000252242 ENSP00000448767 ENSP00000449783 ENSP00000447209 ENSP00000448041

ENSP00000449651

Reactome Protein details: P13647
Human Recombinant Protein Products:

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	Novus Biologicals KRT5 Protein Novus Biologicals KRT5 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for KRT5

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005739	mitochondrion	IEA	--
GO:0005829	cytosol	TAS	--
GO:0005882	intermediate filament	IDA	10852826
GO:0005886	plasma membrane	IEA	--

KRT5 for ontologies About GeneDecksing

KRT5 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of KRT5
	R&D Systems Antibodies for KRT5 (Cytokeratin 5)
	Cell Signaling Technology (CST) Antibodies for KRT5 (K5)
	OriGene Antibodies (see all 10): KRT5 OriGene Custom Antibody Services for KRT5
	GenScript Custom Superior Antibodies Services for KRT5
	Novus Biologicals KRT5 Antibodies
	Abcam antibodies for KRT5
	Uscn Antibodies for KRT5
	ThermoFisher Antibody for KRT5

Assay Products for KRT5:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for KRT5
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for KRT5

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

KRT5 for domains About GeneDecksing

4 InterPro domains/families:

IPR018039 Intermediate_filament_CS

IPR001664 IF

IPR016044 F

IPR003054 Keratin_II

Graphical View of Domain Structure for InterPro Entry P13647

ProtoNet protein and cluster: P13647

3 Blocks protein families:

IPB001664 Intermediate filament protein

IPB002957 Type I keratin signature

IPB003054 Type II keratin signature

UniProtKB/Swiss-Prot: K2C5_HUMAN, P13647

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:

Genatlas biochemistry entry for KRT5:

keratin 5,type II,basal layer,dimerizing with KRT14

miRNA Products:		miRTarBase miRNAs that target KRT5: hsa-mir-196a (MIRT000221)

		OriGene 3'-UTR Clone: KRT5 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT5
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT5:
		hsa-miR-3163 hsa-miR-2052 hsa-miR-656 hsa-miR-127-5p hsa-miR-340
		SwitchGear 3'UTR luciferase reporter plasmid: KRT5 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KRT5 (see all 7) OriGene shRNA RFP: KRT5 OriGene siRNA: KRT5
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT5

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for KRT5

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT5 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT5 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: KRT5 (NM_000424)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT5
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for KRT5
		Search LifeMap BioReagents cell lines for KRT5

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT5

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005198	structural molecule activity	--	--
GO:0005200	structural constituent of cytoskeleton	TAS	7520042
GO:0005515	protein binding	IPI	10727209
GO:0097110	scaffold protein binding	IPI	10852826

KRT5 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for KRT5:

Decreased nuclei size in G2M

Animal Models:
Mouse knock-out Krt5^tm1Tmm for KRT5
7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Krt5):

behavior/neurological	craniofacial	digestive/alimentary	integument	limbs/digits/tail
mortality/aging	no phenotypic analysis

KRT5 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

Cytoskeletal Signaling

Cytoskeletal Signaling

1.00

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 KRT5

Cytoskeleton remodeling Keratin filaments

1 Cell Signaling Technology (CST) Pathway for KRT5

Cytoskeletal Signaling

1 GeneGo (Thomson Reuters) Pathway for KRT5

Cytoskeleton remodeling Keratin filaments

1 BioSystems Pathway for KRT5

Glucocorticoid receptor regulatory network

3 Reactome Pathways for KRT5

	Type I hemidesmosome assembly
	Cell junction organization
	Cell-Cell communication

KRT5 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KRT5

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/86 Interacting proteins for KRT5 (P13647^{1, 3} ENSP00000252242⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 86)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ALOX12	P18054¹^,³, ENSP00000251535⁴	EBI-702187,EBI-1633210 I2D: score=6 STRING: ENSP00000251535
APC	P25054³, ENSP00000257430⁴	I2D: score=3 STRING: ENSP00000257430
KRT18	P05783³, ENSP00000373487⁴	I2D: score=2 STRING: ENSP00000373487
PKP2	Q99959³, ENSP00000070846⁴	I2D: score=2 STRING: ENSP00000070846
BTK	Q06187³, ENSP00000308176⁴	I2D: score=1 STRING: ENSP00000308176

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0008544	epidermis development	TAS	7520042
GO:0031581	hemidesmosome assembly	TAS	--
GO:0034329	cell junction assembly	TAS	--

KRT5 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

KRT5 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KRT5
10/29 Novoseek chemical compound relationships for KRT5 gene (see all 29) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
kalinin	70.2	1	7530560 (1)
estrogen	42.3	24	19675450 (2), 17214855 (1), 19221640 (1), 18752048 (1) (see all 13)
retinoid	41	1	7682522 (1)
retinoic acid	36.8	6	7505782 (3), 1284070 (1), 12890214 (1)
acitretin	27.2	2	1373746 (2)
calcipotriol	26.3	2	1373949 (2)
progesterone	24.1	15	16241993 (1), 19221640 (1), 19567831 (1), 16266999 (1) (see all 11)
paraffin	20.2	1	19514352 (1)
valine	19.2	1	9740251 (1)
asparagine	17.5	2	15102078 (1), 7534039 (1)

Search CenterWatch for drugs/clinical trials and news about KRT5 / K2C5

(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 KRT5 gene:

NM_000424.3

Unigene Cluster for KRT5:

Keratin 5

Hs.433845 [show with all ESTs]

Unigene Representative Sequence: M21389

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

ENST00000252242(uc001san.3) ENST00000552952 ENST00000549511 ENST00000548409

ENST00000552629(uc009zmh.3) ENST00000547890 ENST00000551013 ENST00000551188

ENST00000549420 ENST00000551275 ENST00000546577

miRNA Products:		OriGene 3'-UTR Clone: KRT5 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KRT5
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate KRT5:
		hsa-miR-3163 hsa-miR-2052 hsa-miR-656 hsa-miR-127-5p hsa-miR-340
		SwitchGear 3'UTR luciferase reporter plasmid: KRT5 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for KRT5 (see all 7) OriGene shRNA RFP: KRT5 OriGene siRNA: KRT5
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat KRT5

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KRT5 (see all 3) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KRT5 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: KRT5 (NM_000424)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for KRT5
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KRT5

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRT5 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay in human, mouse, rat KRT5
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT5
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT5

Additional cDNA sequence:

AK093720.1 AK296823.1 AK303972.1 AK310827.1 AY373434.1 BC024292.1 BC042132.1 BC071906.1

M19723.1 M21389.1

24/89 DOTS entries (see all 89):

DT.95147644 DT.97861421 DT.92470157 DT.91647885 DT.92049484 DT.97845743 DT.121119205 DT.95214039

DT.95174976 DT.97845772 DT.121118495 DT.121118296 DT.92470136 DT.92408071 DT.100805796 DT.121118151

DT.121118662 DT.121118114 DT.121118882 DT.121118281 DT.121118676 DT.121118613 DT.95147651 DT.100805805

24/404 AceView cDNA sequences (see all 404):

BF831594 AW946461 AW366724 BQ350594 BF914819 BF876882 AK093720 CR612432

AX748277 BE140567 BF838929 BF149187 AW243951 AA586890 BF915071 AW366728

BQ378588 BF915078 BQ330386 BF873253 BC008807 BT006899 AA583975 BG991287

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for KRT5 (see all 6) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7a	·	7b	^	8	^	9a	·	9b	^	10a	·	10b	^	11
SP1:																							-								-
SP2:																							-
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for KRT5

(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

KRT5 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GCCCCTGCTG

About this image

KRT5 expression in embryonic tissues and stem cells

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

3 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Lung

Respiratory Bronchioles

Lung

Lung

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 4 LifeMap Cells

Name

Category

Early proximal lung progenitors (Directed differentia...)

Mature airway epithelial cells (Directed differentia...)

Immature proximal lung cells (Directed differentia...)

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

Brain

See KRT5 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KRT5

SOURCE GeneReport for Unigene cluster: Hs.433845

SABiosciences Expression via Pathway-Focused PCR Arrays including KRT5:

Lung Cancer in human mouse rat

Cell Surface Markers in human mouse rat

Breast Cancer in human mouse rat

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KRT5 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KRT5
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KRT5

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KRT5

(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 animals.

Orthologs for KRT5 gene from 4/12 species (see all 12) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	KRT5¹	keratin 5	74(n) 76.06(a)		407779 NM_001001195.1 NP_001001195.1
lizard (Anolis carolinensis)	Reptilia	-- -- (see all 3)	--	63(a) (see all 3)	possible ortholog possible ortholog (see all 3)	AAWZ02039762(4434-6932) 2(95689880-95702695)
zebrafish (Danio rerio)	Actinopterygii	zgc:136930⁶ wu:fb15e04⁶ (see all 3)	wu:fb15e04 (see all 3)	20(a) 18(a) (see all 3)	possible ortholog possible ortholog (see all 3)	2(32498013-32508762) 21(24464941-24474821)
worm (Caenorhabditis elegans)	Secernentea	ifc-2⁶ ifp-1⁶ (see all 12)	Intermediate filament protein ifp-1 (see all 12)	7(a) 7(a) (see all 12)	possible ortholog possible ortholog (see all 12)	X(642160-654902) X(9675786-9680111)

ENSEMBL Gene Tree for KRT5 (if available)
TreeFam Gene Tree for KRT5 (if available)

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

Paralogs for KRT5 gene

KRT74² KRT77² KRT6B² KRT83² KRT76² KRT86² KRT3² KRT84²

KRT8² KRT81² KRT71² KRT8P11² KRT78² KRT7² ENSG00000170442² KRT79²

KRT72² KRT73² KRT6C² KRT6A² KRT85² KRT2² KRT75² KRT1²

KRT82² KRT4²

18/65 SIMAP similar genes for KRT5 using alignment to 7 protein entries: K2C5_HUMAN (see all proteins) (see all similar genes):

KRT6A KRT6C KRT1B KRT6B KRT75 KRT7

KRT4 KRT72 KRT71 KRT77 KRT79 KRT3

KRT121P KRTHB6 KRT1 KRT8 KRT74 KRT73

KRT5 for paralogs About GeneDecksing

2 Pseudogenes.org Pseudogenes for KRT5
PGOHUM00000261132 PGOHUM00000261133

(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 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs61126080^1,2	C	pathogenic	52908850(-)	`GGGGG-/GCTCTG`	2	A G	fra¹		0	--	--	--	--
rs59190510^1,2	C	pathogenic	52910431(-)	`AGGGCA/G/TAGGAA`	3	K E *	mis¹ stg¹		0	--	--	--	--
rs61348633^1,2	C	pathogenic	52910436(-)	`GCTGGA/GGGGCG`	2	E G	mis¹		0	--	--	--	--
rs57348201^1,2	C	pathogenic	52910446(-)	`ACCGCA/TAGCTG`	2	K *	stg¹		0	--	--	--	--
rs57599352^1,2	C	pathogenic	52910472(-)	`GGCCCC/TGGACG`	2	P L	mis¹		0	--	--	--	--
rs121912476^1,2	C	pathogenic	52910608(-)	`ATGCCA/GAGCAG`	2	K E	mis¹		0	--	--	--	--
rs59730172^1,2	C	pathogenic	52911479(-)	`GACAAA/CAACCG`	2	K N	mis¹		0	--	--	--	--
rs58072617^1,2	C	pathogenic	52911486(-)	`CTCCAA/C/TGGACA`	3	K T M	mis¹		0	--	--	--	--
rs60586163^1,2	C	pathogenic	52912921(-)	`CAGAAA/C/G/T AAGGT`	4	K N	mis¹ syn¹		0	--	--	--	--
rs121912475^1,2	C	pathogenic	52912944(-)	`TCCAGA/G/TTGCGG`	3	M V L	mis¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for KRT5 (52908359 - 52914471 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for KRT5: --
Human Gene Mutation Database (HGMD): KRT5

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KRT5

DNA2.0 Custom Variant and Variant Library Synthesis for KRT5

(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

KRT5 for disorders           About GeneDecksing

OMIM gene information: 148040
OMIM disorders: 131760  131900  131800  131960  179850  609352
UniProtKB/Swiss-Prot: K2C5_HUMAN, P13647

Defects in KRT5 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 KRT5 are the cause of epidermolysis bullosa simplex with migratory circinate erythema (EBSMCE)

[MIM:609352]. EBSMCE is a form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate

erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and

mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those

seen in the DM-EBS, with no evidence of tonofilament clumping

Defects in KRT5 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 KRT5 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 KRT5 are the cause of epidermolysis bullosa simplex with mottled pigmentation (MP-EBS)

[MIM:131960]. MP-EBS is a form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and

'mottled' pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules

Defects in KRT5 are the cause of Dowling-Degos disease (DDD) [MIM:179850]; also known as

Dowling-Degos-Kitamura disease or reticulate acropigmentation of Kitamura. DDD is an autosomal dominant

genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and

disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds.

Patients usually show no abnormalities of the hair or nails

20/65 diseases for KRT5 (see all 65): About MalaCards

epidermolysis bullosa simplex epidermolysis bullosa epidermolysis bullosa simplex, dowling-meara type ichthyosis hystrix, curth macklin type

epidermolysis bullosa simplex with migratory circinate erythema epidermolysis bullosa simplex with mottled pigmentation dowling-degos disease congenital ichthyosiform erythroderma

pachyonychia congenita pachyonychia congenita type 2 epidermolytic hyperkeratosis degos disease

non-small cell lung carcinoma exfoliative ichthyosis clear cell renal cell carcinoma ceruminoma

primary cutaneous amyloidosis ichthyosis bullous pemphigoid bladder squamous cell carcinoma

7 diseases from the University of Copenhagen DISEASES database for KRT5:

Epidermolysis bullosa simplex Carcinoma Breast cancer Benign mesothelioma

Malignant mesothelioma Ductal carcinoma in situ Papilloma

10/46 Novoseek disease relationships for KRT5 gene (see all 46) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
epidermolysis bullosa simplex	97.2	90	12655565 (3), 12648226 (3), 15347343 (3), 10782015 (2) (see all 60)
ebs-mp	91.9	4	10494094 (1), 8799157 (1), 16581562 (1), 15982306 (1)
epidermolysis bullosa	77	3	8435522 (1), 7537032 (1), 19691749 (1)
ichthyosis	61.1	2	16417221 (1)
keratoderma palmoplantar	60.3	2	16417221 (1)
skin diseases	58.4	6	9989794 (1), 12655565 (1), 17039244 (1), 20030639 (1)
hyperkeratosis	56.8	1	11407989 (1)
bullous congenital ichthyosiform erythroderma	54.9	1	10903910 (1)
breast carcinoma	51.9	10	16241993 (2), 16938528 (1), 17123107 (1), 20049202 (1) (see all 7)
carcinoma	50.1	15	16846983 (2), 1379783 (2), 19536621 (2), 15494931 (1) (see all 10)

GeneTests: KRT5

Epidermolysis Bullosa Simplex

Genetic Association Database (GAD): KRT5
Human Genome Epidemiology (HuGE) Navigator: KRT5 (5 documents)

Export disorders for KRT5 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 KRT5 gene, integrated from 9 sources (see all 392):
(articles sorted by number of sources associating them with KRT5)

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

A usual frameshift and delayed termination codon mutation in keratin 5 causes a novel type of epidermolysis bullosa simplex with migratory circinate erythema. (PubMed id 12925204)^{1, 2, 4, 9} Gu L.-H.... Kitajima Y. (2003)
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)
K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber- Cockayne). (PubMed id 10782015)^{1, 2, 9} Liovic M.... Komel R. (2000)
A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype. (PubMed id 15140024)^{1, 2, 9} Liovic M.... Komel R. (2004)
A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. (PubMed id 15347343)^{1, 2, 9} Li J.-G.... Peng Z.-H. (2004)
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)
A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex. (PubMed id 9740251)^{1, 2, 9} Galligan P.... Rothnagel J.A. (1998)
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. (PubMed id 9036937)^{1, 2, 9} Stephens K.... Sybert V.P. (1997)
The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. (PubMed id 8799157)^{1, 2, 9} Uttam J.... Fuchs E. (1996)
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. (PubMed id 16882168)^{1, 2, 9} Yasukawa K....Shimizu H. (2006)

(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: 3852	HGNC: 6442	AceView: KRT5	Ensembl:ENSG00000186081	euGenes: HUgn3852
ECgene: KRT5	H-InvDB: KRT5

(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 KRT5	Pharmacogenomics, SNPs, Pathways
Human Intermediate Filament Mutation Database	http://www.interfil.org
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/KRT5

Intellectual Property for KRT5 gene
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Patent Information for KRT5 gene:
Search GeneIP for patents involving KRT5

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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keratin 5

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BREAST CARCINOMA
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KRT5 Gene

keratin 5

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