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

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

Homo sapiens

Also known as NS9; SOS-2

Gene ID: 6655 | Gene type: protein coding

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
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference 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

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