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  2. RASA2 - RAS p21 protein activator 2 Gene

RASA2 - RAS p21 protein activator 2 Gene

中文名称:RAS p21 蛋白激活因子 2

种属: Homo sapiens

同用名: GAP1M

基因 ID: 5922 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是 GTPase 激活蛋白 GAP1 家族的成员。该基因产物刺激正常 Ras p21 的 GTPase 活性,但不刺激其致癌对应物。作为 Ras 功能的抑制剂,该蛋白增强了 Ras 蛋白的弱内在 GTPase 活性,导致 Ras 的 GDP 结合形式处于非活性状态,从而控制细胞增殖和分化。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
33961781 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

RASA2 蛋白结构

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
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  • 849 a.a.
蛋白主名 其他名称

ras GTPase-activating protein 2

GTPase-activating protein 1m

RASA2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
RASA2 Q15283 NOLC1 Homo sapiens Q14978 33961781
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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