RASA2 - RAS p21 protein activator 2 Gene
Also Known as GAP1M
Species: Homo sapiens
About RASA2
This gene has 6 transcripts (splice variants), 211 orthologues, 10 paralogues and is associated with 1 phenotype. Ubiquitous expression in lymph node (RPKM 9.4), appendix (RPKM 7.9) and 24 other tissues.
Summary
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]
RASA2 Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001303245.3 | NP_001290174.1 | ras GTPase-activating protein 2 isoform 2 |
| NM_001303246.3 | NP_001290175.1 | ras GTPase-activating protein 2 isoform 1 |
| NM_006506.5 | NP_006497.2 | ras GTPase-activating protein 2 isoform 3 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
33961781 | GOA |
RASA2 Protein Structure
C2: C2 domain (42 - 121)
C2: C2 domain (173 - 271)
RasGAP: GTPase-activator protein for Ras-like GTPase (380 - 549)
PH: PH domain (607 - 704)
BTK: BTK motif (713 - 742)
- 0
- 200
- 400
- 600
- 800
- 849 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
ras GTPase-activating protein 2 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Noonan Syndrome 1 |
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| Neurofibromatosis |
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| Neurofibromatosis, Type I |
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| Neurofibroma |
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| Juvenile Myelomonocytic Leukemia |
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| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
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| Lymphatic Malformation 12 |
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| Noonan Syndrome With Multiple Lentigines |
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| Rasopathy |
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| Trophoblastic Neoplasm |
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| Pylorospasm |
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| Cardiofaciocutaneous Syndrome 1 |
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| Malignant Spindle Cell Melanoma |
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| Pulmonary Valve Disease |
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| Neurofibromatosis-Noonan Syndrome |
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| Pulmonary Valve Stenosis |
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| Costello Syndrome |
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| Kuru |
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| Gingival Fibromatosis |
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| Arteriovenous Malformation |
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| Arteriovenous Malformations Of The Brain |
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