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Aliases for KRT2 Gene

Aliases for KRT2 Gene

  • Keratin 2 2 3
  • Keratin 2, Type II 2 3 5
  • Epithelial Keratin-2e 3 4
  • Keratin-2 Epidermis 3 4
  • Type-II Keratin Kb2 3 4
  • 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
  • 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 Superficial Epidermolytic Ichthyosis. Among its related pathways are Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is KRT73.

UniProtKB/Swiss-Prot for KRT2 Gene

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

Gene Wiki entry for KRT2 Gene

No data available for 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

Proteomics data for KRT2 Gene at MOPED

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

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 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

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

Localization for KRT2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KRT2 Gene COMPARTMENTS Subcellular localization image for KRT2 gene
Compartment Confidence
cytoskeleton 5
extracellular 5
golgi apparatus 5
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for KRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005882 intermediate filament IEA,TAS 1380918
GO:0045095 keratin filament IEA --
GO:0045111 intermediate filament cytoskeleton IDA --
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

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:0043616 keratinocyte proliferation 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

(2) Drugs for KRT2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(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:

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 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



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.
genes like me logo Genes that share expression patterns with KRT2: view

Protein tissue co-expression partners for KRT2 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia KRT2 35
  • 81.97 (n)
  • 79.71 (a)
KRT2 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KRT2 35
  • 97.3 (n)
  • 96.91 (a)
KRT2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT2 36
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KRT2 36
  • 55 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt2 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KRT2 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 52 (a)
ManyToMany
Species with no ortholog for KRT2:
  • 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

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

Variants for KRT2 Gene

Sequence variations from dbSNP and Humsavar for KRT2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_003865 Ichthyosis bullosa of Siemens (IBS)
VAR_003866 Ichthyosis bullosa of Siemens (IBS)
VAR_003867 Ichthyosis bullosa of Siemens (IBS)
VAR_009185 Ichthyosis bullosa of Siemens (IBS)
rs56829062 Ichthyosis bullosa of Siemens (IBS) 52,646,783(-) ATGTG(A/G)AGATC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv832415 CNV Loss 17160897
nsv428281 CNV Gain 18775914

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

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

Disorders for KRT2 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
ichthyosis bullosa of siemens
  • irritable bowel syndrome
superficial epidermolytic ichthyosis
  • ichthyosis bullosa of siemens
epidermolytic hyperkeratosis
  • bullous congenital ichthyosiform erythroderma
exfoliative ichthyosis
  • autosomal recessive exfoliative ichthyosis
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 J.A. … Roop D.R. (Nat. Genet. 1994) 2 3 4 23 67
  2. New consensus nomenclature for mammalian keratins. (PMID: 16831889) Schweizer J. … Wright M.W. (J. Cell Biol. 2006) 2 3
  3. Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing. (PMID: 15949009) Akiyama M. … Shimizu H. (Br. J. Dermatol. 2005) 3 23
  4. Expression of keratin K2e in cutaneous and oral lesions: association with keratinocyte activation, proliferation, and keratinization. (PMID: 12598329) Bloor B.K. … Waseem A. (Am. J. Pathol. 2003) 3 23
  5. New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. (PMID: 11531804) Whittock N.V. … McGrath J.A. (Br. J. Dermatol. 2001) 3 23

Products for KRT2 Gene

Sources for KRT2 Gene

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