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Details of KRT5 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| KRT5 | --- | P13647 | K2C5_HUMAN | 3852 | ENSG00000186081 | Keratin, type II cytoskeletal 5 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Epidermolysis bullosa simplex, Dowling-Meara type (DM- EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. Note=The disease is caused by mutations affecting the gene represented in this entry. | 131760 | Epidermolysis bullosa simplex, with migratory circinate erythema (EBSMCE) [MIM:609352]: A form of intraepidermal epidermolysis bullosa characterized by unusual migratory circinate erythema. Skin lesions appear from birth primarily on the hands, feet, and legs but spare nails, ocular epithelia and mucosae. Lesions heal with brown pigmentation but no scarring. Electron microscopy findings are distinct from those seen in the DM-EBS, with no evidence of tonofilament clumping. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609352 | Epidermolysis bullosa simplex, Weber-Cockayne type (WC- EBS) [MIM:131800]: A form of intraepidermal epidermolysis bullosa characterized by blistering limited to palmar and plantar areas of the skin. Note=The disease is caused by mutations affecting the gene represented in this entry. | 131800 | Epidermolysis bullosa simplex, Koebner type (K-EBS) [MIM:131900]: A form of intraepidermal epidermolysis bullosa characterized by generalized skin blistering. The phenotype is not fundamentally distinct from the Dowling-Meara type, although it is less severe. Note=The disease is caused by mutations affecting the gene represented in this entry. | 131900 | Epidermolysis bullosa simplex, with mottled pigmentation (MP-EBS) [MIM:131960]: A form of intraepidermal epidermolysis bullosa characterized by blistering at acral sites and 'mottled' pigmentation of the trunk and proximal extremities with hyper- and hypopigmentation macules. Note=The disease is caused by mutations affecting the gene represented in this entry. | 131960 | Dowling-Degos disease (DDD) [MIM:179850]: Autosomal dominant genodermatosis. Affected individuals develop a postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. Note=The disease is caused by mutations affecting the gene represented in this entry. | 179850 |
Phenotypes
Abnormal appendicular skeleton morphology, Abnormality of limb bone morphology, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of skeletal morphology, Abnormality of skin adnexa, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of the hand, Abnormality of the integument, Abnormality of the nail, Abnormality of the nervous system, Abnormality of the palm, Abnormality of the plantar skin of foot, Abnormality of the skeletal system, Abnormality of the skin, Abnormality of the upper limb, Age of onset, All, Autosomal dominant inheritance, Discrete 2 to 5-mm hyper- and hypopigmented macules, Epidermal thickening, Generalized abnormality of skin, Growth abnormality, Growth delay, Hyperactivity, Hyperkeratosis, Hyperkinesis, Hyperpigmentation of the skin, Hyperpigmented/hypopigmented macules, Hypopigmentation of the skin, Irregular hyperpigmentation, Juvenile onset, Localized skin lesion, Milia, Mixed hypo- and hyperpigmentation of the skin, Mode of inheritance, Mottled pigmentation, Mottled pigmentation of the trunk and proximal extremities, Nail dysplasia, Neonatal onset, Onset, Onset and clinical course, Pallor, Palmar hyperkeratosis, Palmoplantar blistering, Palmoplantar hyperkeratosis, Phenotypic abnormality, Plantar hyperkeratosis, Progressive reticulate hyperpigmentation, Punctate palmoplantar hyperkeratosis, Regional abnormality of skin, Reticular hyperpigmentation, Thickened skin, Thick nail.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Krt5 | --- | --- | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| KRT5 | KRT10 | 0.255740338 | KRT5 | KRT10 | cpx208 | no | no | no | Novel |
| KRT5 | KRT77 | 0.049300223 | KRT5 | KRT77 | cpx208 | no | no | no | Novel |
| KRT2 | KRT5 | 0.087571876 | KRT2 | KRT5 | cpx208 | no | no | no | Novel |
| KRT1 | KRT5 | 0.186043761 | KRT1 | KRT5 | cpx208 | no | no | no | Novel |