DISEASES

Disease-gene associations mined from literature

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Literature associating CDC42EP2 and familial temporal lobe epilepsy 4

CDC42EP2 [ENSP00000279249]

CDC42 effector protein (Rho GTPase binding) 2; Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts in a CDC42-dependent manner; Belongs to the BORG/CEP family.

Synonyms:  CDC42EP2,  O14613,  BORG1,  CEP2,  O14613p ...

Linkouts:  STRING  Pharos  UniProt  OMIM

The disease-gene associations are derived from automatic text mining of the biomedical literature, manually curated database annotations, cancer mutation data, and genome-wide association studies. The confidence of each association is signified by stars, where ★★★★★ is the highest confidence and ★☆☆☆☆ is the lowest.

Developed by Sune Frankild, Alexander Junge, Albert Pallejà, Dhouha Grissa, Kalliopi Tsafou, and Lars Juhl Jensen from the Novo Nordisk Foundation Center for Protein Research.