This gene encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
这个基因编码属于该纽蛋白/阿尔法连环蛋白家族的蛋白质。所编码的蛋白质在细胞 - 细胞粘附于肌肉细胞的作用。在这种基因突变与致心律失常性右心室发育不良,家族13选择性剪接的结果在多个转录变体相关联。 [由RefSeq的,2014年3月提供]
CTNNA3基因(以及对应的蛋白质)的细胞分布位置:
CTNNA3基因的本体(GO)信息:
名称 |
---|
4390 Hippo signaling pathway [PATH:hsa04390] |
4520 Adherens junction [PATH:hsa04520] |
4530 Tight junction [PATH:hsa04530] |
4670 Leukocyte transendothelial migration [PATH:hsa04670] |
5200 Pathways in cancer [PATH:hsa05200] |
5213 Endometrial cancer [PATH:hsa05213] |
5412 Arrhythmogenic right ventricular cardiomyopathy (ARVC) [PATH:hsa05412] |
5100 Bacterial invasion of epithelial cells [PATH:hsa05100] |
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13 | 0.24 | 1 | 2 | CLINVAR_UNIPROT |
Asthma | 0.123452799 | 4 | 1 | BeFree_CTD_human_GAD |
Schizophrenia | 0.120271442 | 1 | 1 | BeFree_GWASCAT |
Substance-Related Disorders | 0.12 | 1 | 0 | CTD_human |
Bronchopulmonary Dysplasia | 0.12 | 1 | 1 | GWASCAT |
Lung Diseases, Interstitial | 0.12 | 1 | 1 | GWASCAT |
Alzheimer's Disease | 0.022732561 | 7 | 0 | GAD_LHGDN |
Tobacco Use Disorder | 0.004734064 | 2 | 1 | GAD |
Cardiomyopathy, Dilated | 0.002995792 | 1 | 0 | BeFree_LHGDN |
Multiple Sclerosis | 0.002367032 | 1 | 0 | GAD |
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