RASA2 - RAS p21 protein activator 2 Gene

Also Known as GAP1M

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 5922

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
Molecular Function GO Annotation Evidence References 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

C2

C2: C2 domain (42 - 121)

C2

C2: C2 domain (173 - 271)

RasGAP

RasGAP: GTPase-activator protein for Ras-like GTPase (380 - 549)

PH

PH: PH domain (607 - 704)

BTK

BTK: BTK motif (713 - 742)

  • 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
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
RASA2 Q15283 NOLC1 Homo sapiens Q14978 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