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The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  这个基因的产物属于formin同源蛋白家族的透光亚科。该基因可能在卵巢的发展和正常功能的作用。该基因缺陷已与卵巢早衰2编码不同亚型选择性剪接转录变异体已经确定。 [由RefSeq的,2008年7月提供]
DIAPH2基因(以及对应的蛋白质)的细胞分布位置:
DIAPH2基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Premature Ovarian Failure 2a | 0.24 | 0 | 0 | CLINVAR_CTD_human |
Ovarian Failure, Premature | 0.001085767 | 4 | 1 | BeFree |
Age related macular degeneration | 0.000542884 | 2 | 1 | BeFree |
Ovarian failure | 0.000542884 | 2 | 0 | BeFree |
Amenorrhea | 0.000271442 | 1 | 0 | BeFree |
Brain Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Premature Menopause | 0.000271442 | 1 | 0 | BeFree |
Ganglioglioma | 0.000271442 | 1 | 0 | BeFree |
Desmoplastic infantile astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Diminished ovarian reserve | 0.000271442 | 1 | 0 | BeFree |
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