SOS2 Gene - SOS Ras/Rho Guanine Nucleotide Exchange Factor 2
Comprehensive biomedical resource for SOS2: genomic data, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | SOS2 |
|---|---|
| Full Name | SOS Ras/Rho Guanine Nucleotide Exchange Factor 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q21.3 |
| NCBI Gene ID | 6654 ncbi.nlm.nih.gov/gene/6654 |
| Ensembl ID | ENSG00000100485 |
| UniProt ID | Q07889 |
| OMIM ID | 601247 |
| HGNC ID | 11188 |
| Aliases | SOS2, NS9, GF1, SOS-2 |
Description
SOS2 (SOS Ras/Rho Guanine Nucleotide Exchange Factor 2) is a protein-coding gene that encodes a guanine nucleotide exchange factor (GEF) for RAS and RHO family small GTPases. It activates RAS by promoting the exchange of GDP for GTP, playing a critical role in signal transduction pathways including MAPK/ERK signaling. SOS2 is involved in cell growth, differentiation, and survival. Mutations in SOS2 are associated with Noonan syndrome and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Noonan syndrome 9 (NS9) | Gain-of-function mutations in SOS2 lead to increased RAS activation, disrupting normal development. | OMIM #616559; ClinVar |
| Hereditary gingival fibromatosis | SOS2 mutations may contribute to abnormal cell proliferation in gingival tissue. | OMIM #135400; PubMed |
| RASopathies | SOS2 mutations cause dysregulation of the RAS-MAPK pathway, leading to syndromic disorders. | OMIM; ClinVar |
| Cancer (various) | Somatic mutations in SOS2 can promote oncogenic RAS signaling in tumors. | COSMIC; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Heart | 6.2 | Medium |
| Liver | 4.1 | Low |
| Lung | 5.8 | Medium |
| Kidney | 7.3 | Medium |
| Testis | 9.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | High expression |
| HeLa | 7.8 | Medium expression |
| A549 | 6.5 | Medium expression |
| MCF7 | 5.1 | Low expression |
| K562 | 8.9 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1654G>A (p.Gly552Arg) | Missense | <0.1% | Gain-of-function; associated with Noonan syndrome |
| c.1255C>T (p.Arg419Trp) | Missense | <0.1% | Gain-of-function; RAS pathway activation |
| c.2186C>T (p.Thr729Met) | Missense | <0.1% | Likely pathogenic; Noonan syndrome |
| c.437A>G (p.Tyr146Cys) | Missense | <0.1% | Uncertain significance |
| c.1234_1236del (p.Lys412del) | Deletion | <0.1% | Loss-of-function; reduced GEF activity |
Mutation functional classification
Loss of Function (LOF)
Rare deletions or nonsense mutations that reduce or abolish GEF activity, impairing RAS activation.
Gain of Function (GOF)
Missense mutations (e.g., p.Gly552Arg) that enhance GEF activity, leading to constitutive RAS signaling and Noonan syndrome.
Dominant Negative (DN)
Not well documented; some mutations may interfere with wild-type SOS2 function.
View complete mutation data：
Gene Ontology (GO)
| • guanyl-nucleotide exchange factor activity (GO:0005085) | • small GTPase mediated signal transduction (GO:0007264) |
| • MAPK cascade (GO:0000165) | • plasma membrane (GO:0005886) |
| • cytoplasm (GO:0005737) |
Pathways
• RAS signaling pathway (Reactome: R-HSA-5673001)
• MAPK/ERK signaling (KEGG: hsa04010)
• Signaling by Receptor Tyrosine Kinases (Reactome: R-HSA-9006934)
• Noonan syndrome pathway (KEGG: hsa05230)
Protein Summary
SOS2 is a 1333-amino acid protein with a molecular weight of ~152 kDa. It contains a Dbl homology (DH) domain, a pleckstrin homology (PH) domain, and a Ras exchanger motif (REM) domain. The protein functions as a guanine nucleotide exchange factor (GEF) for RAS and RHO GTPases, catalyzing the exchange of GDP for GTP. SOS2 is ubiquitously expressed and localizes to the cytoplasm and plasma membrane. It is regulated by phosphorylation and interaction with GRB2. Mutations in SOS2 are linked to Noonan syndrome and cancer.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SOS2 Knockout HEK293 Cell Line | EDJ-KQ136 | Human | 6655 | Details Get a Quote |
| SOS2 Knockout A-549 Cell Line | EDJ-KQ18888 | Human | 6655 | Details Get a Quote |
| SOS2 Knockout HCT 116 Cell Line | EDJ-KQ18889 | Human | 6655 | Details Get a Quote |
| SOS2 Knockout HeLa Cell Line | EDJ-KQ18890 | Human | 6655 | Details Get a Quote |
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