RASA2 - RAS p21 protein activator 2 Gene

Homo sapiens

Also known as GAP1M

Gene ID: 5922 | Gene type: protein coding

About RASA2

Cytogenetic location: 3q23 Genomic coordinates (GRCh38): 3:141,487,027-141,615,344 (from NCBI)

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	33961781	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RASA2 Protein Structure

RasGAP

BTK

0
200
400
600
800
849 a.a.

Protein Preferred Names

Protein Names

ras GTPase-activating protein 2

GTPase-activating protein 1m

RASA2 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RASA2	Q15283	NOLC1	Homo sapiens	Q14978	Anti Tag CoIP	33961781

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

Neurofibromatosis

Neurofibromatoses	Acoustic Neurofibromatosis
Central Neurofibromatosis	Peripheral Neurofibromatosis
Recklinghausen'S Neurofibromatosis	Von Reklinghausen Disease
Neurofibromatosis Type 1

Neurofibromatosis, Type I

Von Recklinghausen Disease	Neurofibromatosis 1
Neurofibromatosis, Type 1	NF1
Neurofibromatosis, Peripheral Type	Neurofibromatosis Type I
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Familial Spinal Neurofibromatosis
Fsnf	Peripheral Neurofibromatosis
Von Recklinghausen'S Neurofibromatosis	Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion
Neurofibromatosis Peripheral Type	Von Recklinghausen Syndrome
Neurofibromatosis Type 1	Von Recklinghausen Neuropathy
Nf1 - [Neurofibromatosis Type 1]	Recklinghausen Disease

Neurofibroma

Neurofibromas	Neurofibromatoses
Nerve Sheath Tumors

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic	JMML
Leukemia, Juvenile Myelomonocytic, Somatic	Juvenile Chronic Myelomonocytic Leukemia
Juvenile Chronic Myelogenous Leukemia	Leukemia, Myelomonocytic, Juvenile
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Noonan Syndrome-Like Disorder With Loose Anagen Hair

Noonan-Like Syndrome With Loose Anagen Hair	Mazzanti Syndrome
Ns/Lah

Lymphatic Malformation 12

Central Conducting Lymphatic Anomaly	LMPHM12
Ccla	Lymphatic Malformation-7
Doid:0081030

Noonan Syndrome With Multiple Lentigines

Leopard Syndrome	Multiple Lentigines Syndrome
Moynahan Syndrome	Cardiomyopathic Lentiginosis
Progressive Cardiomyopathic Lentiginosis	Cardio-Cutaneous Syndrome
Lentiginosis Profusa	Capute-Rimoin-Konigsmark-Esterly-Richardson Syndrome
Generalized Lentiginosis	Gorlin Syndrome Ii
Lentiginosis Profusa Syndrome	Lentigines, Electrocardiographic Conduction Abnormalities, Ocular Hypertelorism, Pulmonic Stenosis, Abnormal Genitalia, Retardation Of Growth, Deafnes
Diffuse Lentiginosis	Nsml
Familial Multiple Lentigines Syndrome	Alopecia-Epilepsy-Intellectual Disability Syndrome, Moynahan Type
Progressive Cardiomyopathic Lentiginosis Syndrome	Alopecia Epilepsy Oligophrenia Syndrome Of Moynahan

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Trophoblastic Neoplasm

Trophoblastic Tumor

Trophoblastic Neoplasms

Pylorospasm

Cardiofaciocutaneous Syndrome 1

Cardiofaciocutaneous Syndrome	Cfc Syndrome
Cardio-Facio-Cutaneous Syndrome	CFC1
Cfcs	Cardio-Facial-Cutaneous Syndrome
Congenital Heart Defects Characteristic Facial Appearance Ectodermal Abnormalities And Growth Failure	Cardiofaciocutaneous Syndrome, Type 1

Malignant Spindle Cell Melanoma

Spindle Cell Melanoma	Desmoplastic Melanoma
Spindle Cell Malignant Melanoma	Spitzoid Malignant Melanoma

Pulmonary Valve Disease

Pulmonary Valve Disorder

Neurofibromatosis-Noonan Syndrome

NFNS	Neurofibromatosis Type 1
Neurofibromatosis With Noonan Phenotype	Nf1
Von Recklinghausen Disease	Neurofibromatosis Type 1-Noonan Syndrome
Noonan Neurofibromatosis Syndrome	Recklinghausen'S Disease
Noonan-Neurofibromatosis Syndrome	Fibromatosis Multiple Non Ossifying
Disseminated Nonossifying Fibromas In Association With Cafe-Au-Lait Spots	Jaffe Campanacci Syndrome
Type 1 Neurofibromatosis	Neurofibromatosis 1
Peripheral Neurofibromatosis	Recklinghausen Disease, Nerve
Jaffe-Campanacci Syndrome

Pulmonary Valve Stenosis

Valvular Pulmonary Stenosis	Heart Valve Pulmonary Stenosis
Valvar Pulmonary Stenosis	Valvate Pulmonary Stenosis
Pulmonary Stenosis	Pulmonary Valve Stricture
Pulmonic Valve Stenosis	Ps - [Pulmonary Valve Stenosis]
Pvs - [Pulmonary Valve Stenosis]	Pulmonary Valvular Stricture
Pulmonary Valvular Stenosis	Pulmonary Valvular Obstruction
Pulmonary Valve Obstruction	Obstructed Pulmonary Valve

Costello Syndrome

Faciocutaneoskeletal Syndrome	Fcs Syndrome
Congenital Myopathy With Excess Of Muscle Spindles	CSTLO
CMEMS	Fcss
Myopathy, Congenital, With Excess Of Muscle Spindles

Kuru

Kuru, Susceptibility To	Kuru Encephalopathy
Kuru Encephalitis	Kuru Disease

Gingival Fibromatosis

Hereditary Gingival Fibromatosis	Hereditary Gingival Hyperplasia
Autosomal Dominant Gingival Fibromatosis	Autosomal Dominant Gingival Hyperplasia
Fibromatosis, Gingival, Hereditary	Fibromatosis, Gingival

Arteriovenous Malformation

Arteriovenous Malformations	Arteriovenous Hemangioma
Cirsoid Aneurysm	Racemose Aneurysm
Racemose Angioma	Racemose Hemangioma
Congenital Arteriovenous Malformation

Arteriovenous Malformations Of The Brain

Cerebral Arteriovenous Malformation	Intracranial Arteriovenous Malformation
Intracranial Hemorrhage In Brain Cerebrovascular Malformations, Susceptibility To	Intracranial Arteriovenous Malformations
Bavm	Cerebral Arteriovenous Malformations
Intracranial Hemorrhage In Brain Cerebrovascular Malformations	Arteriovenous Malformation Of The Brain, Somatic
Intracranial Avm	Arteriovenous Malformations Cerebral

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS11679	RASA2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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