更多...
收起
The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including RAS and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Three alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
[中文简述(自动翻译):]  由该基因编码的蛋白质是含有N-末端GEF域,EF-手钙结合基序2串联重复,以及一个C端的二酰基甘油/佛波醇酯结合脑富含核苷酸交换因子域。这种蛋白质可以激活小GTP酶,包括RAS和RAP1 / RAS3。这种蛋白质的核苷酸交换活性可以通过钙和二酰基甘油刺激。已发现此基因三个编码相同蛋白质可变剪接转录物变体。 [由RefSeq的,2008年7月提供]
RASGRP2基因(以及对应的蛋白质)的细胞分布位置:
RASGRP2基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| BLEEDING DISORDER, PLATELET-TYPE, 18 | 0.24 | 1 | 0 | ORPHANET_UNIPROT |
| Leukocyte Adhesion Deficiency, Type III | 0.08 | 0 | 0 | MGD |
| Gout | 0.002367032 | 1 | 1 | GAD |
| Congenital leukocyte adherence deficiency | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。