RASA2 Chromosome 3
RAS p21 protein activator 2
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What This Gene Does
The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
"Pleckstrin homology domain containing|C2 and RasGAP domain containing"
Locus Type
gene with protein product
Location
3q23
Ensembl
ENSG00000155903
Associated Conditions (4)
RASA2-related disorder
Clear cell carcinoma of kidney
Familial cancer of breast
Noonan syndrome 1
Key Variants
RS1194909078
Conflicting classifications of pathogenicity
Health Risk
RS138115393
Conflicting classifications of pathogenicity
Health Risk
RS141310259
Conflicting classifications of pathogenicity
Health Risk
RS144759014
Conflicting classifications of pathogenicity
Health Risk
RS150847466
Conflicting classifications of pathogenicity
RASA2-related disorder, RASA2-related disorder
Health Risk
RS201190266
Conflicting classifications of pathogenicity
RASA2-related disorder, RASA2-related disorder
Health Risk
RS201352230
Conflicting classifications of pathogenicity
RASA2-related disorder, RASA2-related disorder
Health Risk
RS371059099
Conflicting classifications of pathogenicity
Health Risk
RS373463558
Conflicting classifications of pathogenicity
Clear cell carcinoma of kidney, Familial cancer of breast, Clear cell carcinoma of kidney
Health Risk
RS376313232
Conflicting classifications of pathogenicity
Health Risk
RS548063424
Conflicting classifications of pathogenicity
RASA2-related disorder, RASA2-related disorder
Health Risk
RS747837865
Conflicting classifications of pathogenicity
Health Risk
All Variants (17)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1194909078 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138115393 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141310259 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144759014 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150847466 | Health Risk | Conflicting classifications of pathogenicity | RASA2-related disorder, RASA2-related disorder |
| RS201190266 | Health Risk | Conflicting classifications of pathogenicity | RASA2-related disorder, RASA2-related disorder |
| RS201352230 | Health Risk | Conflicting classifications of pathogenicity | RASA2-related disorder, RASA2-related disorder |
| RS371059099 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS373463558 | Health Risk | Conflicting classifications of pathogenicity | Clear cell carcinoma of kidney, Familial cancer of breast, Clear cell carcinoma of kidney |
| RS376313232 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS548063424 | Health Risk | Conflicting classifications of pathogenicity | RASA2-related disorder, RASA2-related disorder |
| RS747837865 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747843653 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS754617499 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS767782524 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS781067370 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1169587141 | Health Risk | Likely pathogenic | Noonan syndrome 1, Noonan syndrome 1 |