RRAS2
Function
GTP-binding protein with GTPase activity involved in the regulation of MAPK signaling pathway, thereby controlling multiple cellular processes (PubMed:31130282). Involved in the regulation of MAPK signaling pathway (PubMed:31130282, PubMed:31130285). Regulation of craniofacial development (PubMed:31130282, PubMed:31130285).
Involvement in disease
Ovarian cancer
OC
The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Noonan syndrome 12
NS12
A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS12 inheritance is autosomal dominant. There is considerable variability in severity.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
May be post-translationally modified by both palmitoylation and polyisoprenylation.
Fatty-acylation at Lys-192, Lys-194; lys-196 and Lys-197 is required for localization to the plasma membrane and activity (PubMed:28406396). Defatty-acylated by SIRT6, affecting its localization to the plasma membrane (PubMed:28406396).
Sequence Similarities
Belongs to the small GTPase superfamily. Ras family.
Tissue Specificity
Ubiquitously present in all tissues examined, with the highest levels in heart, placenta, and skeletal muscle. Moderate levels in lung and liver; low levels in brain, kidney, and pancreas.
Cellular localization
- Cell membrane
- Lipid-anchor
- Cytoplasmic side
- Golgi apparatus membrane
- Lipid-anchor
Alternative names
TC21, RRAS2, Ras-related protein R-Ras2, Ras-like protein TC21, Teratocarcinoma oncogene