Free for academic non-profit institutions. Other users need a Commercial license
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 (SOS Ras/Rho Guanine Nucleotide Exchange Factor 2) is a Protein Coding gene. Diseases associated with SOS2 include Noonan Syndrome 9 and Noonan Syndrome 1. Among its related pathways are Common Cytokine Receptor Gamma-Chain Family Signaling Pathways and GDNF-Family Ligands and Receptor Interactions. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is SOS1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003677 | DNA binding | IEA | -- |
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 7629138 |
GO:0046982 | protein heterodimerization activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000786 | nucleosome | IEA | -- |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Common Cytokine Receptor Gamma-Chain Family Signaling Pathways |
Immune response IL-9 signaling pathway
.42
Development Thrombopoietin-regulated cell processes
.38
|
|
2 | Regulation of lipid metabolism Insulin signaling-generic cascades |
Regulation of lipid metabolism Insulin signaling-generic cascades
.59
Translation Insulin regulation of translation
.59
Transcription Receptor-mediated HIF regulation
.51
Translation Regulation of EIF2 activity
.47
Translation Regulation of EIF4F activity
.44
|
Development CNTF receptor signaling
.43
Cell adhesion PLAU signaling
.35
Development Growth hormone signaling via PI3K/AKT and MAPK cascades
.34
|
3 | GPCR Pathway |
Paxillin Interactions
.73
Ras Pathway
.73
GPCR Pathway
.62
Pancreatic Adenocarcinoma
.59
|
Breast Cancer Regulation by Stathmin1
.58
NFAT in Immune Response
.58
Estrogen Pathway
.55
|
4 | IL-2 Pathway |
ErbB Family Pathway
.59
ErbB4 Pathway
.59
Prolactin Signaling
.54
ErbB2-ErbB3 Heterodimers
.49
|
IL-2 Pathway
.48
TREM1 Pathway
.43
IL-4 Pathway
.34
|
5 | Development Angiotensin activation of ERK |
Development ACM2 and ACM4 activation of ERK
.73
Development Angiotensin activation of ERK
.73
Development Angiotensin signaling via PYK2
.68
Development G-Proteins mediated regulation MARK-ERK signaling
.65
|
Development EDNRB signaling
.54
Development EPO-induced MAPK pathway
.48
Signal transduction IP3 signaling
.40
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007186 | G protein-coupled receptor signaling pathway | TAS | -- |
GO:0007264 | small GTPase mediated signal transduction | IEA | -- |
GO:0043065 | positive regulation of apoptotic process | TAS | -- |
GO:0051056 | regulation of small GTPase mediated signal transduction | TAS | -- |
GO:0051057 | positive regulation of small GTPase mediated signal transduction | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Guanosine triphosphate | Experimental | Pharma | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SOS2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SOS2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | SOS2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SOS2 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SOS2 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Sos2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Sos2 30 |
|
||
Chicken (Gallus gallus) |
Aves | SOS2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SOS2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | sos2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | sos2 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009180 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | Sos 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | sos-1 31 |
|
OneToMany | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CDC25 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636823 | Uncertain Significance: not provided | 50,174,549(-) | T/A | MISSENSE_VARIANT | |
639276 | Uncertain Significance: Noonan syndrome 9 | 50,199,769(-) | C/T | SYNONYMOUS_VARIANT | |
639562 | Uncertain Significance: Noonan syndrome 9 | 50,150,026(-) | A/G | MISSENSE_VARIANT | |
641799 | Uncertain Significance: Noonan syndrome 9 | 50,150,171(-) | C/T | MISSENSE_VARIANT | |
642933 | Uncertain Significance: Noonan syndrome 9 | 50,139,969(-) | T/C | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv28926 | CNV | gain+loss | 19812545 |
esv3581191 | CNV | loss | 25503493 |
nsv1127380 | CNV | deletion | 24896259 |
nsv1143609 | CNV | deletion | 24896259 |
nsv564835 | CNV | gain | 21841781 |
nsv564836 | CNV | loss | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
noonan syndrome 9 |
|
|
noonan syndrome 1 |
|
|
glandular tularemia |
|
|
juvenile myelomonocytic leukemia |
|
|
pulmonary valve disease |
|
|