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Aliases for KRT2 Gene

Aliases for KRT2 Gene

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

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 Keratinization. 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 for KRT2 Gene

  • Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation and keratinization.

Gene Wiki entry for KRT2 Gene

Additional gene information for KRT2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KRT2 Gene

Genomics for KRT2 Gene

Regulatory Elements for KRT2 Gene

Enhancers for KRT2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12H052867 1.3 FANTOM5 Ensembl ENCODE dbSUPER 43.3 -215.6 -215566 1 ZNF664 USF2 KRT2 KRT74 KRT79 KRT4 KRT84 KRT8 KRT1 KRT77 RPL7P41 KRT78
GH12H052869 2 FANTOM5 Ensembl ENCODE dbSUPER 20.6 -221.2 -221151 7 HDGF PKNOX1 SIN3A ZBTB7B ZNF766 CBX5 ZNF207 ZNF143 FOS REST AAAS KRT2 LOC100652999 PCBP2 EIF4B SP1 ZNF740 ATF7 KRT84 PFDN5
GH12H052859 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.8 -208.2 -208245 1 NFIB CEBPG BMI1 RFX5 CTBP1 FOS SMARCE1 RFX1 ZNF687 MAZ KRT79 KRT4 KRT76 KRT1 KRT2 KRT83 KRT71 KRT6A RARG KRT5
GH12H052491 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.7 +157.6 157619 6 STAT1 CEBPB KLF17 SIN3A EBF1 NR3C1 ZIC2 JUND GLIS1 SCRT2 KRT6C KRT5 KRT6A KRT71 KRT82 KRT84 KRT87P KRT86 KRT2 KRT78
GH12H052515 1.5 FANTOM5 ENCODE dbSUPER 9.9 +131.1 131131 11 PKNOX1 ZNF133 GLIS2 SCRT2 RCOR1 FOS DEK ZNF398 MAFF GLIS1 KRT5 KRT6A KRT6C KRT71 KRT74 KRT84 KRT2 KRT4 KRT82 KRT83
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KRT2 on UCSC Golden Path with GeneCards custom track

Genomic Location for KRT2 Gene

Chromosome:
12
Start:
52,644,558 bp from pter
End:
52,652,175 bp from pter
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:

Antibody Products

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
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for KRT2 Gene

GenScript: Design optimal peptide antigens:

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. Associated with keratinocyte activation, proliferation and keratinization.

Phenotypes From GWAS Catalog for KRT2 Gene

Gene Ontology (GO) - Molecular Function for KRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
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 IDA 7543090
genes like me logo Genes that share ontologies with KRT2: view

Phenotypes for KRT2 Gene

GenomeRNAi human phenotypes for KRT2:
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

Clone Products

  • Applied Biological Materials Clones for KRT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
plasma membrane 4
golgi apparatus 2

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 IDA 23580065
GO:0005634 nucleus IDA 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

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

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 TAS,IEA 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved Pharma Target 188
Zinc Approved Pharma Target 2359

(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 :
(4) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KRT2 Gene

Keratin 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for KRT2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for KRT2 Gene

GeneLoc Exon Structure for
KRT2
ECgene alternative splicing isoforms for
KRT2

Expression for KRT2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, and MOPED for KRT2 Gene



Protein tissue co-expression partners for KRT2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KRT2 Gene:

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)
  • Liver(4.2)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
Organs:
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

Primer Products

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 33 34
  • 97.3 (n)
dog
(Canis familiaris)
Mammalia KRT2 34
  • 82 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KRT2 33 34
  • 81.97 (n)
mouse
(Mus musculus)
Mammalia Krt2 34
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KRT2 34
  • 61 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KRT2 34
  • 55 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 52 (a)
ManyToMany
Species where no ortholog for KRT2 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)
  • 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 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 KRT2 Gene

ENSEMBL:
Gene Tree for KRT2 (if available)
TreeFam:
Gene Tree for KRT2 (if available)

Paralogs for KRT2 Gene

Variants for KRT2 Gene

Sequence variations from dbSNP and Humsavar for KRT2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs137852631 Pathogenic, Ichthyosis bullosa of Siemens (IBS) [MIM:146800] 52,651,587(-) CTCTC(A/G/T)ACAAC reference, missense
rs56829062 Pathogenic, Ichthyosis bullosa of Siemens (IBS) [MIM:146800] 52,646,783(-) ATGTG(A/G)AGATC reference, missense
rs57510142 Pathogenic, Ichthyosis bullosa of Siemens (IBS) [MIM:146800] 52,651,601(-) TGAGC(A/C/T)GATCA reference, missense
rs60537449 untested, Ichthyosis bullosa of Siemens (IBS) [MIM:146800] 52,646,782(-) TGTGG(A/T)GATCG reference, missense
rs61622714 untested, Ichthyosis bullosa of Siemens (IBS) [MIM:146800] 52,651,598(-) GCAGA(A/T)CAAAA reference, missense

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)

Relevant External Links for KRT2 Gene

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

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

Disorders for KRT2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for KRT2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ichthyosis bullosa of siemens
  • bullous type ichthyosis
exfoliative ichthyosis
  • autosomal recessive exfoliative ichthyosis
ichthyosis
  • ichthyoses
epidermolytic hyperkeratosis
  • bullous congenital ichthyosiform erythroderma
congenital ichthyosiform erythroderma
  • alligator skin
- 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.

Relevant External Links for KRT2

Genetic Association Database (GAD)
KRT2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 60
  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 22 60
  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 22 60
  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 22 60
  5. A novel mutation in the 2B domain of keratin 2e causing ichthyosis bullosa of Siemens. (PMID: 11167982) Irvine AD … McLean WH (Clinical and experimental dermatology 2000) 3 4 22 60

Products for KRT2 Gene

Sources for KRT2 Gene

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