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This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  该基因编码含有在骨骼肌和平滑肌表达的蛋白质,和外周血淋巴细胞一个血影重复,即定位于核膜。在这种基因突变与常染色体隐性遗传脊髓小脑性共济失调8,也被称为常染色体隐性遗传小脑性共济失调1型或博斯隐性共济失调相关联。编码不同同种型的可变剪接转录物变体已有描述。 [由RefSeq的,2008年7月提供]
SYNE1基因(以及对应的蛋白质)的细胞分布位置:
SYNE1基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8 (disorder) | 0.36 | 0 | 13 | CLINVAR_CTD_human_ORPHANET |
Emery-Dreifuss Muscular Dystrophy 4 | 0.32 | 1 | 3 | CLINVAR_MGD_UNIPROT |
Bipolar Disorder | 0.130282454 | 7 | 3 | BeFree_GAD_GWASCAT |
Muscular Dystrophy, Emery-Dreifuss | 0.121085767 | 4 | 0 | BeFree_CTD_human |
Colorectal Neoplasms | 0.12 | 2 | 0 | CTD_human |
Substance-Related Disorders | 0.12 | 1 | 0 | CTD_human |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | 0.12 | 0 | 0 | ORPHANET |
Mammary Neoplasms | 0.12 | 1 | 0 | CTD_human |
Nasopharyngeal carcinoma | 0.12 | 1 | 0 | CTD_human |
Cerebellar Ataxia | 0.003538676 | 3 | 0 | BeFree_LHGDN |
Muscular Dystrophy | 0.00272435 | 1 | 0 | LHGDN |
Malignant neoplasm of ovary | 0.002638474 | 1 | 1 | BeFree_GAD |
Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
Squamous cell carcinoma | 0.002367032 | 1 | 0 | GAD |
Diabetes Mellitus, Non-Insulin-Dependent | 0.002367032 | 1 | 1 | GAD |
Esophageal Neoplasms | 0.002367032 | 1 | 0 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Blood pressure finding | 0.002367032 | 1 | 1 | GAD |
Systemic arterial pressure | 0.002367032 | 1 | 1 | GAD |
Colorectal Carcinoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of breast | 0.000814326 | 3 | 0 | BeFree |
Breast Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Colorectal Cancer | 0.000814326 | 3 | 0 | BeFree |
Ataxia | 0.000542884 | 2 | 0 | BeFree |
Essential Hypertension | 0.000542884 | 2 | 0 | BeFree |
Cardiomyopathies | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Adenoma | 0.000271442 | 1 | 0 | BeFree |
Alzheimer's Disease | 0.000271442 | 1 | 0 | BeFree |
Arthrogryposis | 0.000271442 | 1 | 0 | BeFree |
Colitis | 0.000271442 | 1 | 0 | BeFree |
Muscular Dystrophy, Duchenne | 0.000271442 | 1 | 0 | BeFree |
Heart Diseases | 0.000271442 | 1 | 0 | BeFree |
leukemia | 0.000271442 | 1 | 0 | BeFree |
Acute lymphocytic leukemia | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Ovarian Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
Diffuse Large B-Cell Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Ataxia, Spinocerebellar | 0.000271442 | 1 | 0 | BeFree |
Migraine Disorders | 0.000271442 | 1 | 0 | BeFree |
Cutaneous Melanoma | 0.000271442 | 1 | 0 | BeFree |
Vascular anomaly | 0.000271442 | 1 | 0 | BeFree |
Hyperplastic Polyp | 0.000271442 | 1 | 0 | BeFree |
Cortical Dysplasia | 0.000271442 | 1 | 0 | BeFree |
Epithelial ovarian cancer | 0.000271442 | 1 | 0 | BeFree |
Hippocampal sclerosis | 0.000271442 | 1 | 0 | BeFree |
Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Congenital vascular anomaly | 0.000271442 | 1 | 0 | BeFree |
Liver carcinoma | 0.000271442 | 1 | 0 | BeFree |
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