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This gene is a member of the MER/AXL/TYRO3 receptor kinase family and encodes a transmembrane protein with two fibronectin type-III domains, two Ig-like C2-type (immunoglobulin-like) domains, and one tyrosine kinase domain. Mutations in this gene have been associated with disruption of the retinal pigment epithelium (RPE) phagocytosis pathway and onset of autosomal recessive retinitis pigmentosa (RP). [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  此基因是MER / AXL / TYRO3受体激酶家族的成员,编码具有两个纤连蛋白III型结构域的跨膜蛋白,二Ig样C2型(免疫球蛋白样)结构域,和一种酪氨酸激酶域。在这种基因突变与视网膜色素上皮细胞(RPE)细胞吞噬途径的破坏和常染色体隐性色素性视网膜炎(RP)的发病相关联。 [由RefSeq的,2008年7月提供]
MERTK基因(以及对应的蛋白质)的细胞分布位置:
MERTK基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Retinitis Pigmentosa | 0.367262917 | 11 | 2 | BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET |
RETINITIS PIGMENTOSA 38 (disorder) | 0.24 | 1 | 6 | CLINVAR_UNIPROT |
Multiple Sclerosis | 0.122909916 | 3 | 1 | BeFree_GAD_GWASCAT |
Thrombosis | 0.12272435 | 1 | 0 | CTD_human_LHGDN |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
Pulmonary Embolism | 0.12 | 1 | 0 | CTD_human |
Thromboembolism | 0.12 | 1 | 0 | CTD_human |
Biliary Cirrhosis, Secondary | 0.12 | 1 | 1 | GWASCAT |
Lupus Erythematosus, Systemic | 0.003181358 | 4 | 0 | BeFree_GAD |
leukemia | 0.002995792 | 2 | 0 | BeFree_LHGDN |
Atherosclerosis | 0.002638474 | 2 | 0 | BeFree_GAD |
Retinal Diseases | 0.002638474 | 2 | 0 | BeFree_GAD |
Lupus Erythematosus | 0.002638474 | 2 | 0 | BeFree_GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Glioblastoma | 0.000814326 | 3 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000814326 | 3 | 0 | BeFree |
Retinal Degeneration | 0.000814326 | 3 | 0 | BeFree |
Autosomal recessive retinitis pigmentosa | 0.000814326 | 3 | 0 | BeFree |
Glioblastoma Multiforme | 0.000814326 | 3 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000814326 | 3 | 0 | BeFree |
Autoimmune Diseases | 0.000542884 | 2 | 0 | BeFree |
Leukemia, Myelocytic, Acute | 0.000542884 | 2 | 0 | BeFree |
Leber Congenital Amaurosis | 0.000542884 | 2 | 0 | BeFree |
Retinal Dystrophies | 0.000542884 | 2 | 0 | BeFree |
Arteriosclerosis | 0.000271442 | 1 | 0 | BeFree |
Brain Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Malignant neoplasm of breast | 0.000271442 | 1 | 0 | BeFree |
Non-Small Cell Lung Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Hematological Disease | 0.000271442 | 1 | 0 | BeFree |
Lymphoid leukemia | 0.000271442 | 1 | 0 | BeFree |
Leukopenia | 0.000271442 | 1 | 0 | BeFree |
Lupus Vulgaris | 0.000271442 | 1 | 0 | BeFree |
Lupus Erythematosus, Discoid | 0.000271442 | 1 | 0 | BeFree |
Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Lymphopenia | 0.000271442 | 1 | 0 | BeFree |
Rhabdomyosarcoma | 0.000271442 | 1 | 0 | BeFree |
Tumor Progression | 0.000271442 | 1 | 0 | BeFree |
Age related macular degeneration | 0.000271442 | 1 | 0 | BeFree |
Multiple malignancy | 0.000271442 | 1 | 0 | BeFree |
Carotid Atherosclerosis | 0.000271442 | 1 | 0 | BeFree |
Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
Breast Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Severe Acute Respiratory Syndrome | 0.000271442 | 1 | 0 | BeFree |
Precursor B-cell lymphoblastic leukemia | 0.000271442 | 1 | 0 | BeFree |
IMMUNE SUPPRESSION | 0.000271442 | 1 | 0 | BeFree |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Allergic disposition | 0.000271442 | 1 | 0 | BeFree |
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