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 expressed largely in the upper spinous layer of epidermal keratinocytes and mut... See more...

Aliases for KRT2 Gene

Aliases for KRT2 Gene

  • Keratin 2 2 3 5
  • Keratin, Type II Cytoskeletal 2 Epidermal 3 4
  • Epithelial Keratin-2e 3 4
  • Keratin-2 Epidermis 3 4
  • Type-II Keratin Kb2 3 4
  • Keratin 2, Type II 2 3
  • Cytokeratin-2e 3 4
  • Keratin-2e 3 4
  • CK-2e 3 4
  • KRT2A 3 4
  • KRT2E 3 4
  • KRTE 2 3
  • K2e 3 4
  • Keratin 2A (Epidermal Ichthyosis Bullosa Of Siemens) 2
  • Epidermal Ichthyosis Bullosa Of Siemens 2
  • KRT2 5

External Ids for KRT2 Gene

Previous HGNC Symbols for KRT2 Gene

  • KRT2A

Previous GeneCards Identifiers for KRT2 Gene

  • GC12M051325
  • GC12M053038
  • GC12M050082

Summaries for KRT2 Gene

Entrez Gene Summary for KRT2 Gene

  • 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 expressed largely in the upper spinous layer of epidermal keratinocytes and mutations in this gene have been associated with bullous congenital ichthyosiform erythroderma. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]

GeneCards Summary for KRT2 Gene

KRT2 (Keratin 2) is a Protein Coding gene. Diseases associated with KRT2 include Ichthyosis Bullosa Of Siemens and Exfoliative Ichthyosis. Among its related pathways are Cytoskeleton remodeling Neurofilaments and Developmental Biology. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT1.

UniProtKB/Swiss-Prot Summary for KRT2 Gene

  • Probably contributes to terminal cornification (PubMed:1380918). Associated with keratinocyte activation, proliferation and keratinization (PubMed:12598329). Plays a role in the establishment of the epidermal barrier on plantar skin (By similarity).

Gene Wiki entry for KRT2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KRT2 Gene

Genomics for KRT2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KRT2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J052652 Promoter 0.4 EPDnew 600.7 0.0 -20 0.1 ZNF133 KRT2 JA662197 HSALNG0091200 KRT1
GH12J052650 Enhancer 0.3 Ensembl 600.7 +1.4 1410 0.8 NFE2 REST KRT2 JA662197 KRT1 KRT128P lnc-KRT2-1 KRT73
GH12J052869 Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 20.6 -221.1 -221114 7.1 CTCF PRDM10 ZNF629 LEF1 IKZF1 ZNF692 TARDBP JUND FOXA1 PRDM1 lnc-KRT8-2 KRT2 AAAS KRT84 ZNF740 PFDN5 KRT79 TARBP2 ENSG00000257808 CSAD
GH12J052867 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 43.3 -215.5 -215529 1.4 USF1 ZNF664 USF2 KRT2 KRT74 KRT79 KRT4 KRT84 KRT8 KRT1 KRT77 lnc-KRT8-2 KRT78
GH12J052515 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.9 +131.2 131167 11.4 CREB1 ZBTB33 JUND ZIC2 SCRT2 MNT ESR1 CTBP1 NR3C1 FOS KRT5 HSALNG0091190 lnc-KRT6A-1 KRT6A KRT6C KRT71 KRT74 KRT84 KRT2 KRT4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KRT2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KRT2

Top Transcription factor binding sites by QIAGEN in the KRT2 gene promoter:
  • AML1a
  • AP-4
  • E47
  • POU6F1 (c2)
  • RORalpha1
  • Tal-1beta
  • TBP
  • YY1
  • ZIC2

Genomic Locations for KRT2 Gene

Genomic Locations for KRT2 Gene
chr12:52,644,558-52,652,211
(GRCh38/hg38)
Size:
7,654 bases
Orientation:
Minus strand
chr12:53,038,342-53,045,959
(GRCh37/hg19)
Size:
7,618 bases
Orientation:
Minus strand

Genomic View for KRT2 Gene

Genes around KRT2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KRT2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KRT2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KRT2 Gene

Proteins for KRT2 Gene

  • Protein details for KRT2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P35908-K22E_HUMAN
    Recommended name:
    Keratin, type II cytoskeletal 2 epidermal
    Protein Accession:
    P35908
    Secondary Accessions:
    • Q4VAQ2

    Protein attributes for KRT2 Gene

    Size:
    639 amino acids
    Molecular mass:
    65433 Da
    Quaternary structure:
    • Heterotetramer of two type I and two type II keratins. Associates with KRT10 (By similarity).
    Miscellaneous:
    • There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

neXtProt entry for KRT2 Gene

Post-translational modifications for KRT2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for KRT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT2 Gene

Domains & Families for KRT2 Gene

Gene Families for KRT2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for KRT2 Gene

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

Suggested Antigen Peptide Sequences for KRT2 Gene

GenScript: Design optimal peptide antigens:
  • Type-II keratin Kb2 (K22E_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P35908

UniProtKB/Swiss-Prot:

K22E_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with KRT2: view

Function for KRT2 Gene

Molecular function for KRT2 Gene

UniProtKB/Swiss-Prot Function:
Probably contributes to terminal cornification (PubMed:1380918). Associated with keratinocyte activation, proliferation and keratinization (PubMed:12598329). Plays a role in the establishment of the epidermal barrier on plantar skin (By similarity).

Phenotypes From GWAS Catalog for KRT2 Gene

Gene Ontology (GO) - Molecular Function for KRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 1380918
GO:0005515 protein binding IPI 25416956
GO:0008092 cytoskeletal protein binding IEA --
GO:0030280 structural constituent of epidermis IEA,IDA 7543090
genes like me logo Genes that share ontologies with KRT2: view

Phenotypes for KRT2 Gene

genes like me logo Genes that share phenotypes with KRT2: view

Human Phenotype Ontology for KRT2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT2

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KRT2 Gene

Localization for KRT2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KRT2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
plasma membrane 4
extracellular 4
nucleus 4
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for KRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IDA 7543090
GO:0005615 extracellular space HDA 23580065
GO:0005634 nucleus HDA 21630459
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament TAS 1380918
genes like me logo Genes that share ontologies with KRT2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for KRT2 Gene

Pathways & Interactions for KRT2 Gene

PathCards logo

SuperPathways for KRT2 Gene

SuperPathway Contained pathways
1 Developmental Biology
2 Keratinization
3 Cytoskeleton remodeling Neurofilaments
.32
genes like me logo Genes that share pathways with KRT2: view

Pathways by source for KRT2 Gene

2 Reactome pathways for KRT2 Gene
1 GeneGo (Thomson Reuters) pathway for KRT2 Gene
  • Cytoskeleton remodeling Keratin filaments

Gene Ontology (GO) - Biological Process for KRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003334 keratinocyte development IEA --
GO:0008544 epidermis development IEA,TAS 7524919
GO:0018149 peptide cross-linking IDA 7543090
GO:0031424 keratinization TAS --
GO:0032980 keratinocyte activation IDA 12598329
genes like me logo Genes that share ontologies with KRT2: view

No data available for SIGNOR curated interactions for KRT2 Gene

Drugs & Compounds for KRT2 Gene

(6) Drugs for KRT2 Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Anthralin Approved Pharma Target, antagonist 6
Copper Approved, Investigational Pharma Target 249
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0

(2) Additional Compounds for KRT2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KRT2: view

Transcripts for KRT2 Gene

mRNA/cDNA for KRT2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KRT2

Alternative Splicing Database (ASD) splice patterns (SP) for KRT2 Gene

No ASD Table

Relevant External Links for KRT2 Gene

GeneLoc Exon Structure for
KRT2

Expression for KRT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KRT2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KRT2 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x39.6) and Skin - Not Sun Exposed (Suprapubic) (x13.0).

Protein differential expression in normal tissues from HIPED for KRT2 Gene

This gene is overexpressed in Cerebrospinal fluid (13.4), Pancreatic juice (11.4), Bone marrow mesenchymal stem cell (8.5), and Bone (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KRT2 Gene



Protein tissue co-expression partners for KRT2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KRT2

SOURCE GeneReport for Unigene cluster for KRT2 Gene:

Hs.707

mRNA Expression by UniProt/SwissProt for KRT2 Gene:

P35908-K22E_HUMAN
Tissue specificity: Expressed in the upper spinous and granular suprabasal layers of normal adult epidermal tissues from most body sites including thigh, breast nipple, foot sole, penile shaft and axilla. Not present in foreskin, squamous metaplasias and carcinomas. Expression in hypertrophic and keloid scars begins in the deepest suprabasal layer. Weakly expressed in normal gingiva and tongue, however expression is induced in benign keratoses of lingual mucosa and in mild-to-moderate oral dysplasia with orthokeratinization.

Evidence on tissue expression from TISSUES for KRT2 Gene

  • Skin(4.8)
  • Blood(4.5)
  • Liver(4.4)
  • Heart(2.4)
  • Kidney(2.4)
  • Eye(2.3)
  • Lung(2.2)
  • Intestine(2.1)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for KRT2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
Regions:
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with KRT2: view

Orthologs for KRT2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KRT2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KRT2 30 31
  • 97.3 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KRT2 31
  • 82 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia KRT2 30 31
  • 81.97 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Krt2 31
  • 72 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia KRT2 31
  • 61 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia KRT2 31
  • 55 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 52 (a)
ManyToMany
Species where no ortholog for KRT2 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)
  • Chicken (Gallus gallus)
  • 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)
  • Rat (Rattus norvegicus)
  • 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 KRT2 Gene

ENSEMBL:
Gene Tree for KRT2 (if available)
TreeFam:
Gene Tree for KRT2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KRT2: view image

Paralogs for KRT2 Gene

genes like me logo Genes that share paralogs with KRT2: view

Variants for KRT2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KRT2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
714340 Benign: Ichthyosis bullosa of Siemens; not provided 52,651,826(-) C/T MISSENSE_VARIANT
715648 Benign: not provided 52,651,803(-) C/T MISSENSE_VARIANT
721363 Likely Benign: not provided 52,650,389(-) CTG/C FRAMESHIFT_VARIANT
768549 Benign: not provided 52,651,839(-) A/AGCC INFRAME_INSERTION
779152 Benign: Ichthyosis bullosa of Siemens; not provided 52,652,043(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for KRT2 Gene

Structural Variations from Database of Genomic Variants (DGV) for KRT2 Gene

Variant ID Type Subtype PubMed ID
nsv428281 CNV gain 18775914
nsv832415 CNV loss 17160897

Variation tolerance for KRT2 Gene

Residual Variation Intolerance Score: 86.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.44; 88.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KRT2 Gene

Human Gene Mutation Database (HGMD)
KRT2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KRT2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KRT2 Gene

Disorders for KRT2 Gene

MalaCards: The human disease database

(15) MalaCards diseases for KRT2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ichthyosis bullosa of siemens
  • ibs
exfoliative ichthyosis
  • autosomal recessive exfoliative ichthyosis
epidermolytic hyperkeratosis
  • ehk
ichthyosis
  • ichthyoses
keratinopathic ichthyosis
  • kpi
- elite association - COSMIC cancer census association via MalaCards
Search KRT2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

K22E_HUMAN
  • Ichthyosis bullosa of Siemens (IBS) [MIM:146800]: A rare autosomal dominant skin disorder displaying a type of epidermolytic hyperkeratosis characterized by generalized erythema and extensive blistering from birth. Large, dark gray hyperkeratoses are observed in later weeks. The skin of IBS patients is unusually fragile and has a tendency to shed the outer layers of the epidermis, producing localized denuded areas (molting effect). IBS usually improves with age so that in most middle-aged patients the hyperkeratosis and keratotic lichenification is limited to the flexural folds of the major joints. {ECO:0000269 PubMed:10084318, ECO:0000269 PubMed:10233323, ECO:0000269 PubMed:10564334, ECO:0000269 PubMed:10620137, ECO:0000269 PubMed:10688369, ECO:0000269 PubMed:11167982, ECO:0000269 PubMed:11531804, ECO:0000269 PubMed:15949009, ECO:0000269 PubMed:7521371, ECO:0000269 PubMed:7524919, ECO:0000269 PubMed:8077693, ECO:0000269 PubMed:9036938, ECO:0000269 PubMed:9204966, ECO:0000269 PubMed:9804344, ECO:0000269 PubMed:9833038}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for KRT2

genes like me logo Genes that share disorders with KRT2: view

No data available for Genatlas for KRT2 Gene

Publications for KRT2 Gene

  1. Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens. (PMID: 7524919) Rothnagel JA … Roop DR (Nature genetics 1994) 2 3 4 23
  2. Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. (PMID: 15949009) Akiyama M … Shimizu H (The British journal of dermatology 2005) 3 4 23
  3. Expression of keratin K2e in cutaneous and oral lesions: association with keratinocyte activation, proliferation, and keratinization. (PMID: 12598329) Bloor BK … Waseem A (The American journal of pathology 2003) 3 4 23
  4. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. (PMID: 11531804) Whittock NV … McGrath JA (The British journal of dermatology 2001) 3 4 23
  5. Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens. (PMID: 10688369) Suga Y … Roop DR (Experimental dermatology 2000) 3 4 23

Products for KRT2 Gene

Sources for KRT2 Gene