InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: KRT2

Summary

InnateDB Protein

IDBP-34859.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

KRT2

Protein Name

keratin 2

Synonyms

CK-2e; K2e; KRT2A; KRT2E; KRTE;

Species

Homo sapiens

Ensembl Protein

ENSP00000310861

InnateDB Gene

IDBG-34857 (KRT2)

Protein Structure

UniProt Annotation

Function

Probably contributes to terminal cornification. Associated with keratinocyte activation, proliferation and keratinization. {ECO:0000269PubMed:12598329, ECO:0000269PubMed:1380918}.

Subcellular Localization

Disease Associations

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:0000269PubMed:10084318, ECO:0000269PubMed:10233323, ECO:0000269PubMed:10564334, ECO:0000269PubMed:10620137, ECO:0000269PubMed:10688369, ECO:0000269PubMed:11167982, ECO:0000269PubMed:11531804, ECO:0000269PubMed:15949009, ECO:0000269PubMed:7521371, ECO:0000269PubMed:7524919, ECO:0000269PubMed:8077693, ECO:0000269PubMed:9036938, ECO:0000269PubMed:9204966, ECO:0000269PubMed:9804344, ECO:0000269PubMed:9833038}. Note=The disease is caused by mutations affecting the gene represented in this entry.

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. {ECO:0000269PubMed:10233306, ECO:0000269PubMed:12598329, ECO:0000269PubMed:1380918}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	39 [view]
Protein-Protein	39 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005198	structural molecule activity
GO:0005200	structural constituent of cytoskeleton

Biological Process

GO:0008544	epidermis development
GO:0031424	keratinization
GO:0032980	keratinocyte activation
GO:0043616	keratinocyte proliferation
GO:0051546	keratinocyte migration

Cellular Component

GO:0005615	extracellular space
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005794	Golgi apparatus
GO:0005882	intermediate filament
GO:0016020	membrane
GO:0045095	keratin filament
GO:0045111	intermediate filament cytoskeleton
GO:0070062	extracellular vesicular exosome