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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 specifically expressed in the basal layer of the epidermis with family member KRT14. Mutations in these genes have been associated with a complex of diseases termed epidermolysis bullosa simplex. The type II cytokeratins are clustered in a region of chromosome 12q12-q13. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是角蛋白基因家族的一个成员。 II型角蛋白包括被布置成对简单和分层上皮组织分化过程中共同表达异型角蛋白链的碱性或中性的蛋白质。这种II型角蛋白是在表皮的家庭成员KRT14基底层特异性表达。在这些基因中的突变已与称为表皮松解单纯的疾病的复杂相关联。 II型角蛋白聚集在染色体12q12-Q13的一个区域。 [由RefSeq的,2008年7月提供]
KRT5基因(以及对应的蛋白质)的细胞分布位置:
KRT5基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Epidermolysis bullosa simplex with mottled pigmentation | 0.482171535 | 8 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
| Epidermolysis Bullosa Herpetiformis Dowling-Meara | 0.44 | 9 | 9 | CLINVAR_MGD_ORPHANET_UNIPROT |
| Weber-Cockayne Syndrome | 0.361357209 | 15 | 16 | BeFree_CLINVAR_ORPHANET_UNIPROT |
| Epidermolysis Bullosa Simplex with Migratory Circinate Erythema | 0.360542884 | 2 | 2 | BeFree_CLINVAR_CTD_human_ORPHANET |
| Epidermolysis Bullosa Simplex Kobner | 0.360271442 | 8 | 11 | BeFree_CLINVAR_ORPHANET_UNIPROT |
| dowling-degos disease | 0.242985861 | 11 | 1 | BeFree_CLINVAR_CTD_human |
| Basal cell carcinoma | 0.242367032 | 3 | 1 | CTD_human_GAD_GWASCAT |
| Epidermolysis Bullosa Simplex | 0.15418532 | 58 | 9 | BeFree_CTD_human_GAD_LHGDN |
| Neoplastic Cell Transformation | 0.12 | 1 | 0 | CTD_human |
| Adenoid Cystic Carcinoma | 0.12 | 1 | 0 | CTD_human |
| Animal Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
| Mammary Neoplasms, Experimental | 0.12 | 1 | 0 | CTD_human |
| Salivary Gland Neoplasms | 0.12 | 1 | 0 | CTD_human |
| EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder) | 0.12 | 0 | 2 | CLINVAR |
| Bladder Neoplasm | 0.08 | 1 | 0 | RGD |
| Squamous cell carcinoma | 0.006448592 | 7 | 0 | BeFree_GAD_LHGDN |
| Adenocarcinoma | 0.006263026 | 5 | 0 | BeFree_LHGDN |
| Malignant neoplasm of breast | 0.003528744 | 13 | 0 | BeFree |
| Epidermolysis Bullosa | 0.003267234 | 3 | 0 | BeFree_LHGDN |
| Mammary Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Skin Neoplasms | 0.002909916 | 3 | 0 | BeFree_GAD |
| Hyperplasia | 0.00272435 | 1 | 0 | LHGDN |
| Mesothelioma | 0.00272435 | 1 | 0 | LHGDN |
| Carcinoma, Lobular | 0.00272435 | 1 | 0 | LHGDN |
| Breast Carcinoma | 0.002714419 | 10 | 0 | BeFree |
| Cardiovascular Diseases | 0.002367032 | 1 | 0 | GAD |
| Brain Ischemia | 0.002367032 | 1 | 0 | GAD |
| Coronary heart disease | 0.002367032 | 1 | 0 | GAD |
| melanoma | 0.002367032 | 1 | 0 | GAD |
| Cerebrovascular accident | 0.002367032 | 1 | 0 | GAD |
| Coronary Artery Disease | 0.002367032 | 1 | 0 | GAD |
| Dermatologic disorders | 0.001628651 | 6 | 0 | BeFree |
| Neoplasm Metastasis | 0.000814326 | 3 | 0 | BeFree |
| Skin Diseases, Genetic | 0.000814326 | 3 | 0 | BeFree |
| Adrenocortical carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Carcinogenesis | 0.000814326 | 3 | 0 | BeFree |
| Mottled pigmentation | 0.000814326 | 3 | 3 | BeFree |
| Noninfiltrating Intraductal Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Glomerulonephritis, Membranoproliferative | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of adrenal cortex | 0.000542884 | 2 | 0 | BeFree |
| Epidermolysis bullosa simplex herpetiformis | 0.000542884 | 2 | 0 | BeFree |
| Experimental Organism Basal Cell Carcinoma | 0.000542884 | 2 | 1 | BeFree |
| Malignant neoplasm of urinary bladder | 0.000271442 | 1 | 0 | BeFree |
| Brain Neoplasms | 0.000271442 | 1 | 1 | BeFree |
| Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
| Immunologic Deficiency Syndromes | 0.000271442 | 1 | 0 | BeFree |
| Influenza | 0.000271442 | 1 | 0 | BeFree |
| Palmoplantar Keratosis | 0.000271442 | 1 | 1 | BeFree |
| Liver neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Mycoplasma Infections | 0.000271442 | 1 | 0 | BeFree |
| Odontogenic Tumors | 0.000271442 | 1 | 0 | BeFree |
| Papilloma | 0.000271442 | 1 | 0 | BeFree |
| Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
| Psoriasis | 0.000271442 | 1 | 0 | BeFree |
| Erythema | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of mouth | 0.000271442 | 1 | 0 | BeFree |
| Adenosquamous carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Verrucous carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Comedone | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Ichthyosis hystrix | 0.000271442 | 1 | 1 | BeFree |
| Superficial ulcer | 0.000271442 | 1 | 0 | BeFree |
| Triploidy syndrome | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.000271442 | 1 | 0 | BeFree |
| Poikiloderma of Kindler | 0.000271442 | 1 | 0 | BeFree |
| Pigmentation Disorders | 0.000271442 | 1 | 0 | BeFree |
| Prostate carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of bladder | 0.000271442 | 1 | 0 | BeFree |
| Malignant Squamous Cell Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Breast adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| Hyperkeratosis | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.000271442 | 1 | 0 | BeFree |
| Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
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