keratin, type 2 cytoskeletal 2 epidermal; cytokeratin-2e; CK 2e; K2e; keratin-2 (KRT2, KRT2A, KRT2E)
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Function
- probably contributes to terminal cornification associated with keratinocyte activation, proliferation & keratinization
- associates with KRT10 (putative)
Structure
- type 2 keratin
- heterotetramer of 2 type 1 & 2 type 2 keratins
- belongs to the intermediate filament family
Expression
- expressed in upper spinous & granular suprabasal layers of normal adult epidermal tissues from most body sites including thigh, breast nipple, foot sole, penile shaft & axilla
- not present in foreskin, squamous metaplasias & carcinomas
- expression in hypertrophic & keloid scars begins in the deepest suprabasal layer. weakly expressed in normal gingiva & tongue, however expression is induced in benign keratoses of lingual mucosa & in mild-to-moderate oral dysplasia with orthokeratinization
- synthesized during maturation of epidermal keratinocytes & localized in the upper intermediate cells offetal skin
- earliest expression is at 10 weeks in the developing embryo in the presumptive nail bed of developing digits, shifting to the proximal nail fold by 13.5 weeks
- at 12.5 weeks, detected in scattered cells of the intermediate layer of trunk skin
- at 19.3 weeks, regional expression patterns were observed in upper intermediate keratinocytes of cheek, trunk, dorsal & ventral knee, elbow & dorsal hand
- distal areas around the periumbilical region showed increased number of positive cells & by 15 weeks is expressed in small groups of cells in the fetal hair follicles
Pathology
- defects in KRT2 are a cause of ichthyosis bullosa of Siemens
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P35908.html
- ↑ Human intermediate Filament mutation Database http://www.interfil.org
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=KRT2
- ↑ Wikipedia; Note: keratin-2A entry http://en.wikipedia.org/wiki/keratin_2A
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=3849