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Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  整合素是由α和β亚基的异二聚体,即非共价相关联的跨膜糖蛋白受体。 α和β多肽的不同组合形成,在它们的配体结合特异性不同的复合物。整介导的细胞 - 基质或细胞 - 细胞粘附,以及调节基因表达和细胞生长转导信号。该基因编码的整合素4亚基,为层粘连蛋白的受体。此亚基倾向于用α-6亚基相关联,并有可能发挥浸润癌的生物学举足轻重的作用。在这个基因的突变与幽门闭锁表皮松解相关联。已发现该基因编码不同亚型多重选择性剪接转录变异体。 [由RefSeq的,2008年7月提供]
ITGB4基因(以及对应的蛋白质)的细胞分布位置:
ITGB4基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Epidermolysis bullosa with pyloric atresia | 0.563800186 | 17 | 11 | BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Adult junctional epidermolysis bullosa (disorder) | 0.56 | 1 | 1 | CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT |
Epidermolysis Bullosa | 0.125991584 | 4 | 0 | BeFree_CTD_human_LHGDN |
Pyloric Atresia | 0.121628651 | 8 | 0 | BeFree_CTD_human |
Junctional Epidermolysis Bullosa | 0.121357209 | 6 | 0 | BeFree_CTD_human |
Spontaneous abortion | 0.12 | 1 | 0 | CTD_human |
Adenoid Cystic Carcinoma | 0.12 | 1 | 0 | CTD_human |
Ectodermal Dysplasia | 0.12 | 1 | 0 | CTD_human |
Gliosis | 0.12 | 1 | 0 | CTD_human |
Salivary Gland Neoplasms | 0.12 | 1 | 0 | CTD_human |
Epidermolysis Bullosa Simplex | 0.12 | 0 | 0 | CTD_human |
Weber-Cockayne Syndrome | 0.12 | 0 | 0 | CLINVAR |
Epidermolysis Bullosa Simplex With Pyloric Atresia | 0.12 | 0 | 0 | ORPHANET |
Mammary Neoplasms | 0.013621751 | 5 | 0 | LHGDN |
Neoplasm Metastasis | 0.011983168 | 8 | 0 | BeFree_LHGDN |
Malignant neoplasm of breast | 0.005276948 | 3 | 0 | BeFree_GAD |
Squamous cell carcinoma | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Dermatologic disorders | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Adenocarcinoma | 0.00272435 | 1 | 0 | LHGDN |
Carcinoma, Papillary | 0.00272435 | 1 | 0 | LHGDN |
Colonic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Lung Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Pathologic Neovascularization | 0.00272435 | 1 | 0 | LHGDN |
Bullous pemphigoid | 0.00272435 | 1 | 0 | LHGDN |
Prostatic Neoplasms | 0.00272435 | 1 | 0 | LHGDN |
Thyroid Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
Polycystic Kidney, Autosomal Dominant | 0.00272435 | 1 | 0 | LHGDN |
Chronic Lymphocytic Leukemia | 0.002367032 | 1 | 0 | GAD |
Asthma | 0.000542884 | 2 | 0 | BeFree |
Colorectal Carcinoma | 0.000542884 | 2 | 2 | BeFree |
Glioblastoma | 0.000542884 | 2 | 0 | BeFree |
Herlitz Disease | 0.000542884 | 2 | 0 | BeFree |
Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
Pancreatic Ductal Adenocarcinoma | 0.000542884 | 2 | 0 | BeFree |
Colorectal Cancer | 0.000542884 | 2 | 2 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Malignant tumor of colon | 0.000271442 | 1 | 0 | BeFree |
Cardiovascular Diseases | 0.000271442 | 1 | 0 | BeFree |
Intestinal Diseases | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Skin Diseases, Genetic | 0.000271442 | 1 | 0 | BeFree |
Allergic asthma | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Pancreatic carcinoma | 0.000271442 | 1 | 0 | BeFree |
Miller Dieker syndrome | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma of esophagus | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000271442 | 1 | 0 | BeFree |
Secondary malignant neoplasm of lymph node | 0.000271442 | 1 | 0 | BeFree |
Colon Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Dissecting aneurysm of the thoracic aorta | 0.000271442 | 1 | 0 | BeFree |
Malignant Peripheral Nerve Sheath Tumor | 0.000271442 | 1 | 0 | BeFree |
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