Aliases for KRT2 Gene
External Ids for KRT2 Gene
Previous HGNC Symbols for KRT2 Gene
Previous GeneCards Identifiers 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).