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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
Chromosome 14 Β· 14q21.3
NCBI Gene: 6655Ensembl: ENSG00000100485.13HGNC: HGNC:11188UniProt: Q07890
63PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingguanyl-nucleotide exchange factor activityRas protein signal transductionplasma membraneNoonan syndrome 9Noonan syndromehypertensionessential hypertension
✦AI Summary

SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2) functions as a guanine nucleotide exchange factor that catalyzes GDP-to-GTP exchange in RAS proteins, particularly HRAS, thereby activating RAS signaling pathways 1. The protein acts as a key modulator of PI3K-AKT signaling and plays essential roles in cellular signaling cascades. SOS2 demonstrates both functional redundancy and specificity compared to its homolog SOS1, with evidence suggesting SOS2 has specific functions in keratinocyte regulation and epidermal stem cell homeostasis 2. Disease-wise, pathogenic variants in SOS2 are associated with Noonan syndrome, a RASopathy characterized by multisystemic developmental abnormalities 3. Patients with SOS2 mutations show particularly high prevalence of lymphatic anomalies during infancy and childhood, including increased nuchal translucency, chylothorax, and lymphedema 4. Additionally, SOS2 variants have been identified in male infertility cases, especially those with cryptorchidism and spermatogenic failure 5. Clinically, SOS2 represents a therapeutic target, as concurrent SOS1 and MEK inhibition shows promise in treating NF1-null melanomas, exploiting reduced SOS activity in these tumor cells 6. SOS2 variants are also associated with kidney function abnormalities and growth hormone insensitivity syndromes 78.

Sources cited
1
SOS2 pathogenic variants are associated with Noonan syndrome, accounting for approximately 3% of cases
PMID: 25795793
2
SOS2 variants show high prevalence of lymphatic anomalies during infancy and childhood
PMID: 35979676
3
SOS2 has specific functions in keratinocyte regulation and epidermal stem cell homeostasis, showing both redundancy and specificity with SOS1
PMID: 34205562
4
Concurrent SOS1 and MEK inhibition shows therapeutic potential in NF1-null melanomas
PMID: 39488215
5
SOS2 variants are associated with male infertility, particularly in cases with cryptorchidism and spermatogenic failure
PMID: 38654924
6
SOS2 rare variants are associated with kidney function abnormalities
PMID: 27920155
7
SOS2 variants are found in patients with growth hormone insensitivity syndromes
PMID: 34136918
Disease Associationsβ“˜21
Noonan syndrome 9Open Targets
0.76Strong
Noonan syndromeOpen Targets
0.75Strong
hypertensionOpen Targets
0.56Moderate
essential hypertensionOpen Targets
0.52Moderate
goutOpen Targets
0.48Moderate
rasopathyOpen Targets
0.46Moderate
kidney failureOpen Targets
0.46Moderate
cardiovascular diseaseOpen Targets
0.43Moderate
Increased blood pressureOpen Targets
0.43Moderate
open-angle glaucomaOpen Targets
0.43Moderate
hydrops fetalisOpen Targets
0.37Weak
type 2 diabetes mellitusOpen Targets
0.36Weak
cerebrovascular disorderOpen Targets
0.34Weak
coronary artery diseaseOpen Targets
0.34Weak
coronary atherosclerosisOpen Targets
0.34Weak
Abnormality of the cardiovascular systemOpen Targets
0.34Weak
kidney diseaseOpen Targets
0.34Weak
occlusion precerebral arteryOpen Targets
0.34Weak
hypertensive heart diseaseOpen Targets
0.34Weak
chronic kidney diseaseOpen Targets
0.34Weak
Noonan syndrome 9UniProt
Pathogenic Variants12
NM_006939.4(SOS2):c.800T>A (p.Met267Lys)Likely pathogenic
Noonan syndrome 9|not provided|RASopathy
β˜…β˜…β˜…β˜†2024β†’ Residue 267
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)Pathogenic
Noonan syndrome 9|not provided|Noonan syndrome|Noonan syndrome 1
β˜…β˜…β˜†β˜†2026β†’ Residue 376
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)Pathogenic
Noonan syndrome 9|Noonan syndrome|not provided|RASopathy|SOS2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 267
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)Pathogenic
Noonan syndrome|Noonan syndrome 9|RASopathy|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 264
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)Pathogenic
Noonan syndrome 9|Noonan syndrome
β˜…β˜…β˜†β˜†2023β†’ Residue 264
NM_006939.4(SOS2):c.800T>C (p.Met267Thr)Pathogenic
not provided|Noonan syndrome 9
β˜…β˜…β˜†β˜†2023β†’ Residue 267
NM_006939.4(SOS2):c.530A>T (p.Asp177Val)Likely pathogenic
Noonan syndrome 9
β˜…β˜†β˜†β˜†2026β†’ Residue 177
NM_006939.4(SOS2):c.26A>G (p.Glu9Gly)Likely pathogenic
Male infertility due to gonadal dysgenesis or sperm disorder
β˜…β˜†β˜†β˜†2023β†’ Residue 9
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser)Pathogenic
Noonan syndrome|Noonan syndrome 9
β˜…β˜†β˜†β˜†2023β†’ Residue 376
NM_006939.4(SOS2):c.1127C>T (p.Thr376Ile)Likely pathogenic
Noonan syndrome 9
β˜…β˜†β˜†β˜†2022β†’ Residue 376
NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)Pathogenic
Noonan syndrome 9
β˜…β˜†β˜†β˜†2022β†’ Residue 431
NM_006939.4(SOS2):c.798_800delinsCAA (p.Glu266_Met267delinsAspLys)Likely pathogenic
Noonan syndrome 9
β˜…β˜†β˜†β˜†2020β†’ Residue 266
View on ClinVar β†—
Related Genes
LCKProtein interaction100%GRAP2Protein interaction100%PLCG1Protein interaction100%NCK1Protein interaction100%EGFRProtein interaction100%GAB2Protein interaction99%
Tissue Expression6 tissues
Heart
100%
Bone Marrow
94%
Brain
84%
Lung
53%
Ovary
38%
Liver
30%
Gene Interaction Network
Click a node to explore
SOS2LCKGRAP2PLCG1NCK1EGFRGAB2
PROTEIN STRUCTURE
Preparing viewer…
PDB8UF2 Β· 1.60 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.28 [0.19–0.41]
RankingsWhere SOS2 stands among ~20K protein-coding genes
  • #7,409of 20,598
    Most Researched63
  • #2,683of 5,498
    Most Pathogenic Variants12
  • #2,170of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedSOS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
PMID: 25795793
J Med Genet Β· 2015
1.00
2
Lymphatic anomalies during lifetime in patients with Noonan syndrome: Retrospective cohort study.
PMID: 35979676
Am J Med Genet A Β· 2022
0.90
3
SOS2 Comes to the Fore: Differential Functionalities in Physiology and Pathology.
PMID: 34205562
Int J Mol Sci Β· 2021
0.80
4
PMID: 27920155
J Am Soc Nephrol Β· 2017
0.70
5
Concurrent SOS1 and MEK suppression inhibits signaling and growth of NF1-null melanoma.
PMID: 39488215
Cell Rep Med Β· 2024
0.60