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This gene encodes a member of the RGS family of GTPase activating proteins that function in various signaling pathways by accelerating the deactivation of G proteins. This protein is anchored to photoreceptor membranes in retinal cells and deactivates G proteins in the rod and cone phototransduction cascades. Mutations in this gene result in bradyopsia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
[中文简述(自动翻译):]  此基因编码RGS家族的GTP酶激活,通过加速的G蛋白的失活的各种信号通路起作用的蛋白质的成员。这种蛋白质被固定到感光膜的视网膜细胞和停用的G蛋白的杆状和锥状光转导级联。突变这个基因导致bradyopsia。多个转录变异体的编码不同亚型也发现了这种基因。[由RefSeq的,2009年09月提供]
RGS9基因(以及对应的蛋白质)的细胞分布位置:
RGS9基因的本位(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
PERRS Gene | 0.480542884 | 3 | 1 | BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT |
Schizophrenia | 0.123181358 | 3 | 0 | BeFree_CTD_human_GAD |
Dyskinesia, Drug-Induced | 0.12 | 2 | 0 | CTD_human |
Psychoses, Substance-Induced | 0.12 | 1 | 0 | CTD_human |
Atherosclerosis | 0.002367032 | 1 | 0 | GAD |
Squamous cell carcinoma | 0.002367032 | 1 | 0 | GAD |
Head and Neck Neoplasms | 0.002367032 | 1 | 0 | GAD |
Neoplasm Recurrence, Local | 0.002367032 | 1 | 0 | GAD |
Neuroblastoma | 0.002367032 | 1 | 1 | GAD |
Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
Weight Gain | 0.002367032 | 1 | 0 | GAD |
Neoplasms, Second Primary | 0.002367032 | 1 | 0 | GAD |
Weight Gain Adverse Event | 0.002367032 | 1 | 0 | GAD |
Psychotic Disorders | 0.000542884 | 2 | 0 | BeFree |
Dyskinetic syndrome | 0.000271442 | 1 | 0 | BeFree |
Photophobia | 0.000271442 | 1 | 0 | BeFree |
Lingual-Facial-Buccal Dyskinesia | 0.000271442 | 1 | 0 | BeFree |
Abnormal involuntary movement | 0.000271442 | 1 | 0 | BeFree |
Tardive Dyskinesia | 0.000271442 | 1 | 0 | BeFree |
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