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Details of KRT2 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| KRT2 | KRT2A,KRT2E | P35908 | K22E_HUMAN | 3849 | ENSG00000172867 | Keratin, type II cytoskeletal 2 epidermal | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| 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. Note=The disease is caused by mutations affecting the gene represented in this entry. | 146800 | ||||||||
Phenotypes
Abnormality of skin morphology, Abnormality of the integument, Abnormality of the skin, All, Autosomal dominant inheritance, Congenital ichthyosiform erythroderma, Epidermal thickening, Generalized abnormality of skin, Ichthyosiform abnormality of the skin, Mode of inheritance, Phenotypic abnormality, Thickened skin.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Krt2 | --- | --- | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| KRT2 | KRT10 | 0.135929651 | KRT2 | KRT10 | cpx208 | no | yes | no | Known |
| KRT1 | KRT2 | 0.160197069 | KRT1 | KRT2 | cpx208 | no | yes | no | Known |
| KRT2 | KRT77 | 0.150767291 | KRT2 | KRT77 | cpx208 | no | no | no | Novel |
| KRT2 | KRT5 | 0.087571876 | KRT2 | KRT5 | cpx208 | no | no | no | Novel |