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Aliases for KRT2 Gene

Aliases for KRT2 Gene

  • Keratin 2, Type II 2 3
  • KRT2A 3 4 6
  • KRT2E 3 4 6
  • Epithelial Keratin-2e 3 4
  • Keratin-2 Epidermis 3 4
  • Type-II Keratin Kb2 3 4
  • Cytokeratin-2e 3 4
  • Keratin-2e 3 4
  • CK-2e 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
  • Keratin 2 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, Type II) 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. GO annotations related to this gene include structural constituent of cytoskeleton. An important paralog of this gene is KRT82.

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

Genomic Location for KRT2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

  • Ubiquitination at Lys188, Lys195, and Lys267
  • Modification sites at PhosphoSitePlus

Other Protein References for KRT2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for KRT2 Gene

Domains for KRT2 Gene

Gene Families for KRT2 Gene

HGNC:
  • IFF2 :Intermediate filaments type II, keratins (basic)

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 :
  • P35908
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.

Gene Ontology (GO) - Molecular Function for KRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity --
GO:0005200 structural constituent of cytoskeleton TAS 1380918
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with KRT2: view
genes like me logo Genes that share phenotypes with KRT2: view

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KRT2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting 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 4
golgi apparatus 4
cytosol 3
nucleus 2

Gene Ontology (GO) - Cellular Components for KRT2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 23580065
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA --
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 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:0008544 epidermis development TAS 7524919
GO:0031424 keratinization IDA 12598329
GO:0032980 keratinocyte activation IDA 12598329
GO:0043616 keratinocyte proliferation IDA 12598329
GO:0051546 keratinocyte migration IDA 15737202
genes like me logo Genes that share ontologies with KRT2: view

Compounds for KRT2 Gene

(4) Novoseek inferred chemical compound relationships for KRT2 Gene

Compound -log(P) Hits PubMed IDs
tazarotene 73.2 1
retinoid 39.6 2
retinoic acid 32.8 3
lysine 21.7 2
genes like me logo Genes that share compounds with KRT2: view

Transcripts for KRT2 Gene

mRNA/cDNA for KRT2 Gene

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

Unigene Clusters for KRT2 Gene

Keratin 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for KRT2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for KRT2

Flow Cytometry Products

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) (39.6) and Skin - Not Sun Exposed (Suprapubic) (13.0).

Integrated Proteomics: protein expression 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 expressions with KRT2: view

In Situ Assay 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 35
  • 97.3 (n)
  • 96.91 (a)
KRT2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia KRT2 35
  • 81.97 (n)
  • 79.71 (a)
KRT2 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KRT2 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Krt2 16
Krt2 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia KRT2 36
  • 55 (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 MAF
rs632952 -- 52,649,852(+) GCTTA(A/G/T)ACACA intron-variant
rs637247 -- 52,651,975(+) AAGCC(A/G)CCTCC reference, synonymous-codon
rs638043 - 52,650,483(+) GGGTG(C/T)CAACA missense, reference
rs638587 -- 52,650,643(+) CTGCT(C/T)CAGGA intron-variant
rs640027 -- 52,652,603(+) TAGAG(A/T)CTGCA upstream-variant-2KB

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

Relevant External Links for KRT2 Gene

HapMap Linkage Disequilibrium report
KRT2
Human Gene Mutation Database (HGMD)
KRT2

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

Disorders for KRT2 Gene

(1) OMIM Diseases for KRT2 Gene (600194)

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.

(1) Novoseek inferred disease relationships for KRT2 Gene

Disease -log(P) Hits PubMed IDs
ichthyosis 92 6

Relevant External Links for KRT2

Genetic Association Database (GAD)
KRT2
genes like me logo Genes that share disorders with KRT2: view

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
  2. Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene. (PMID: 8077693) Kremer H. … Steijlen P.M. (J. Invest. Dermatol. 1994) 3 4 23
  3. A new keratin 2e mutation in ichthyosis bullosa of Siemens. (PMID: 9036938) Jones D.O. … Bowden P.E. (J. Invest. Dermatol. 1997) 3 4 23
  4. A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens. (PMID: 10084318) Arin M.J. … Roop D.R. (J. Invest. Dermatol. 1999) 3 4 23
  5. Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in development. (PMID: 10233306) Smith L.T. … McLean W.H.I. (Br. J. Dermatol. 1999) 3 4 23

Products for KRT2 Gene

Sources for KRT2 Gene

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