RRAS2 Chromosome 11
RAS related 2
Upload your DNA to see your personal genotypes for variants in RRAS2.
What This Gene Does
This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]
Gene Info
Gene Group
RAS type GTPase family
Locus Type
gene with protein product
Location
11p15.2
Ensembl
ENSG00000133818
Associated Conditions (9)
Noonan syndrome
Germinoma
Noonan syndrome 12
RRAS2-related disorder
RASopathy
Ovarian neoplasm
Inborn genetic diseases
Central nervous system germ cell tumor
Adenocarcinoma of the large intestine
Key Variants
RS2134048726
Conflicting classifications of pathogenicity
Noonan syndrome, Germinoma, Noonan syndrome 12
Health Risk
RS1160017680
Likely pathogenic
Health Risk
RS1591495776
Likely pathogenic
Noonan syndrome, Noonan syndrome
Health Risk
RS782457908
Likely pathogenic
Noonan syndrome, Noonan syndrome 12, RRAS2-related disorder
Health Risk
RS113954997
Pathogenic
Noonan syndrome 12, Ovarian neoplasm, Noonan syndrome
Health Risk
RS1591495767
Pathogenic
Noonan syndrome, Noonan syndrome 12, Inborn genetic diseases
Health Risk
RS1591495779
Pathogenic
Noonan syndrome, Inborn genetic diseases, Germinoma
Health Risk
RS2493951813
Pathogenic/Likely pathogenic
Adenocarcinoma of the large intestine, Noonan syndrome 12, Adenocarcinoma of the large intestine
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2134048726 | Health Risk | Conflicting classifications of pathogenicity | Noonan syndrome, Germinoma, Noonan syndrome 12 |
| RS1160017680 | Health Risk | Likely pathogenic | — |
| RS1591495776 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome |
| RS782457908 | Health Risk | Likely pathogenic | Noonan syndrome, Noonan syndrome 12, RRAS2-related disorder |
| RS113954997 | Health Risk | Pathogenic | Noonan syndrome 12, Ovarian neoplasm, Noonan syndrome |
| RS1591495767 | Health Risk | Pathogenic | Noonan syndrome, Noonan syndrome 12, Inborn genetic diseases |
| RS1591495779 | Health Risk | Pathogenic | Noonan syndrome, Inborn genetic diseases, Germinoma |
| RS2493951813 | Health Risk | Pathogenic/Likely pathogenic | Adenocarcinoma of the large intestine, Noonan syndrome 12, Adenocarcinoma of the large intestine |