SOS2 - SOS Ras/Rho guanine nucleotide exchange factor 2 Gene

Also Known as NS9; SOS-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6655

About SOS2

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:50,117,130-50,231,882 (from NCBI)

This gene has 6 transcripts (splice variants), 201 orthologues, 24 paralogues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 19.8), thyroid (RPKM 17.5) and 25 other tissues.

Summary

This gene encodes a regulatory protein that is involved in the positive regulation of Ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]

SOS2 Products (2)

mRNA Protein Name
NM_001411020.1 NP_001397949.1 son of sevenless homolog 2 isoform 2
NM_006939.4 NP_008870.2 son of sevenless homolog 2 isoform 1
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
7629138 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

SOS2 Protein Structure

Histone

Histone: Core histone H2A/H2B/H3/H4 (97 - 168)

RhoGEF

RhoGEF: RhoGEF domain (207 - 386)

PH

PH: PH domain (444 - 542)

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (599 - 715)

RasGEF

RasGEF: RasGEF domain (776 - 961)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1332 a.a.
Protein Preferred Names Protein Names

son of sevenless homolog 2

  • guanine nucleotide releasing factor

SOS2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
SOS2 Q07890 GRB2 Homo sapiens P62993 14679214
Intra
SOS2 Q07890 GRB2 Homo sapiens P62993 7629138
Intra
SOS2 Q07890 PLCG1 Homo sapiens P19174 17474147
Intra
SOS2 Q07890 PLCG1 Homo sapiens P19174 17474147
Intra
SOS2 Q07890 PLCG1 Homo sapiens P19174 17474147
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Noonan Syndrome 9
  • NS9

  • Noonan Syndrome, Type 9

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

Rasopathy
  • Ras/Mitogen-Activated Protein Kinase Syndrome

Pseudo-Turner Syndrome
  • Noonan Syndrome

Noonan Syndrome-Like Disorder With Loose Anagen Hair
  • Noonan-Like Syndrome With Loose Anagen Hair

  • Mazzanti Syndrome

  • Ns/Lah

Glandular Tularemia
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

Pulmonary Valve Disease
  • Pulmonary Valve Disorder

Gingival Fibromatosis
  • Hereditary Gingival Fibromatosis

  • Hereditary Gingival Hyperplasia

  • Autosomal Dominant Gingival Fibromatosis

  • Autosomal Dominant Gingival Hyperplasia

  • Fibromatosis, Gingival, Hereditary

  • Fibromatosis, Gingival

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

Typhoidal Tularemia
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

Lymphatic Malformation 12
  • Central Conducting Lymphatic Anomaly

  • LMPHM12

  • Ccla

  • Lymphatic Malformation-7

  • Doid:0081030

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

Chylothorax, Congenital
  • Congenital Chylothorax

  • Hydrothorax, Congenital

Costello Syndrome
  • Faciocutaneoskeletal Syndrome

  • Fcs Syndrome

  • Congenital Myopathy With Excess Of Muscle Spindles

  • CSTLO

  • CMEMS

  • Fcss

  • Myopathy, Congenital, With Excess Of Muscle Spindles

Hypertrophic Cardiomyopathy
  • Hypertrophic Obstructive Cardiomyopathy

  • Cardiomyopathy, Hypertrophic

  • Cardiomyopathy Hypertrophic Obstructive

  • Cardiomyopathy, Hypertrophic, Familial

  • Idiopathic Myocardial Hypertrophy

  • Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Idiopathic Hypertrophic Cardiomyopathy

  • Obstructive Cardiomyopathy

  • Idiopathic Hypertrophic Subaortic Stenosis

  • Muscular Subaortic Stenosis

  • Hypertrophic Obstructive Subaortic Stenosis

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

Colorectal Cancer
  • Colon Cancer

  • Colorectal Carcinoma

  • Colon Carcinoma

  • Colorectal Cancer, Susceptibility To

  • Carcinoma Of Colon

  • CRC

  • Colorectal Cancer With Chromosomal Instability, Somatic

  • Colon Cancer, Somatic

  • Colon Cancer, Susceptibility To

  • Colonic Neoplasms

  • Colorectal Neoplasms

  • Colorectal Cancer, Somatic

  • Colon Cancer, Advanced, Somatic

  • Colonic Carcinoma

  • Colorectal Carcinomas

  • Colon Cancers

  • Colorectal Cancers

  • Cancer, Colorectal, Somatic

  • Cancer, Colon

  • Cancer, Colorectal, Susceptibility To

  • Colorectal Neoplasm

  • Colonic Neoplasm

  • Malignant Tumor Of Colon

Breast Cancer
  • Breast Carcinoma

  • Male Breast Cancer

  • Breast Cancer, Familial

  • Malignant Neoplasm Of Breast

  • Breast Cancer, Susceptibility To

  • Breast Cancer, Early-Onset

  • Malignant Tumor Of Breast

  • Carcinoma Of Male Breast

  • Breast Cancer, Invasive Ductal

  • Breast Cancer, Protection Against

  • Breast Cancer, Somatic

  • Breast Cancer, Male

  • Breast Cancer, Lobular, Somatic

  • Breast Tumor

  • Mammary Cancer

  • Mammary Tumor

  • Malignant Neoplasm Of Male Breast

  • Mammary Carcinoma

  • Male Breast Carcinoma

  • Familial Cancer Of Breast

  • Invasive Ductal Breast Carcinoma

  • Breast Cancer Susceptibility

  • Breast Cancer, Male, Susceptibility To

  • Breast Cancer, Early-Onset, Susceptibility To

  • Malignant Tumor Of The Breast

  • Mammary Neoplasm

  • Primary Breast Cancer

  • Neoplasm Of Male Breast

  • Carcinoma Of Breast

  • Breast Cancer In Men

  • Familial Breast Cancer

  • Cancer Of Breast

  • BC

  • Breast Cancer Familial

  • Breast Cancer Familial Male

  • Breast Cancer, Familial Male

  • Breast Male Carcinoma

  • Breast Neoplasms

  • Breast Neoplasms, Male

  • Mammary Tumors

  • Mammary Carcinomas

  • Cancer, Breast

  • Cancer, Breast, Susceptibility

  • Invasive Breast Ductal Carcinoma

  • Breast Neoplasm

  • Susceptibility To Breast Cancer

  • Mammary Neoplasms

  • Animal Mammary Neoplasms

  • Primary Malignant Neoplasm Of Breast

  • Infiltrating Ductal Carcinoma Of Breast

  • Infiltrating Duct Carcinoma Of Unspecified Site

  • Infiltrating Ductular Carcinoma Of Unspecified Site

  • Invasive Breast Carcinoma Of No Special Type

  • Microinvasive Carcinoma Of Breast

  • Carcinoma With Apocrine Differentiation

Atrial Heart Septal Defect
  • Atrial Septal Defect

  • Atrial Septal Defects

  • Atrioseptal Defect

  • Auricular Septal Defect

  • Congenital Atrial Septal Defect

  • Interatrial Septal Defect

  • Interauricular Septal Defect

  • Heart Septal Defects, Atrial

  • Septal Defect, Atrial

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

Orthologs Information

Species Symbol Source ID
Mus musculus SOS2 MGD MGI:98355
Bos taurus SOS2 VGNC VGNC:54490
Canis familiaris SOS2 VGNC VGNC:46666
Macaca mulatta SOS2 VGNC VGNC:77838
Rattus norvegicus SOS2 RGD RGD:620435
Felis catus SOS2 VGNC VGNC:65577
Others SOS2 NCBI