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] See more...

Aliases for SOS2 Gene

Aliases for SOS2 Gene

  • SOS Ras/Rho Guanine Nucleotide Exchange Factor 2 2 3 5
  • Son Of Sevenless Homolog 2 3 4
  • SOS-2 3 4
  • Son Of Sevenless (Drosophilia) Homolog 2 2
  • Son Of Sevenless Homolog 2 (Drosophila) 2
  • Guanine Nucleotide Releasing Factor 3
  • NS9 3

External Ids for SOS2 Gene

Previous GeneCards Identifiers for SOS2 Gene

  • GC14M047905
  • GC14M044379
  • GC14M048573
  • GC14M048575
  • GC14M049654
  • GC14M050583
  • GC14M030709

Summaries for SOS2 Gene

Entrez Gene Summary for SOS2 Gene

  • 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]

GeneCards Summary for SOS2 Gene

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 Transcription Androgen Receptor nuclear signaling and Signal transduction_JNK pathway. 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.

UniProtKB/Swiss-Prot Summary for SOS2 Gene

Additional gene information for SOS2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOS2 Gene

Genomics for SOS2 Gene

GeneHancer (GH) Regulatory Elements for SOS2 Gene

Promoters and enhancers for SOS2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J050229 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.6 578 5 ZNF785 ZNF24 ZBTB40 MLX RBPJ POLR2A ETV6 HLF L3MBTL2 MNT SOS2 VCPKMT DMAC2L hsa-miR-5095-130
GH14J050180 Promoter 0.3 EPDnew 761 +51.3 51288 0.1 SOS2 VCPKMT CDKL1 hsa-miR-5095-130
GH14J050311 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 7.8 -80.2 -80223 3.4 SIN3A ZNF24 CTCF ZBTB6 RBPJ POLR2A USF2 HDAC2 CREB1 MYC DMAC2L L2HGDH lnc-CDKL1-2 VCPKMT ATL1 MAP4K5 LRR1 LINC01588 POLE2 SOS2
GH14J050334 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 10.4 -103.8 -103824 2.5 CTBP1 USF2 SP1 CBFA2T2 EGR1 IKZF1 PKNOX1 ZIC2 POLR2A BHLHE40 DMAC2L CDKL1 ATL1 MAP4K5 SOS2 NONHSAG014911.2 piR-31470-165
GH14J049867 Promoter/Enhancer 2.1 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 3 +362.9 362862 4 SIN3A ZNF24 SP1 POLR2A CTBP1 MYC RELA L3MBTL2 RAD21 MAX LOC105378179 lnc-ARF6-13 LINC01588 VCPKMT RNU6-189P ATL1 ARF6 RPL36AL LRR1 SOS2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOS2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SOS2 gene promoter:
  • aMEF-2
  • AREB6
  • GCNF
  • GCNF-1
  • GCNF-2
  • HSF2
  • IRF-7A
  • MEF-2A
  • Nkx6-1
  • TBP

Genomic Locations for SOS2 Gene

Genomic Locations for SOS2 Gene
114,751 bases
Minus strand
114,431 bases
Minus strand

Genomic View for SOS2 Gene

Genes around SOS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOS2 Gene

Proteins for SOS2 Gene

  • Protein details for SOS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Son of sevenless homolog 2
    Protein Accession:
    Secondary Accessions:
    • B7ZKT6
    • D3DSB4
    • Q15503
    • Q17RN1

    Protein attributes for SOS2 Gene

    1332 amino acids
    Molecular mass:
    152979 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for SOS2 Gene

    Alternative splice isoforms for SOS2 Gene


neXtProt entry for SOS2 Gene

Post-translational modifications for SOS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for SOS2 Gene

No data available for DME Specific Peptides for SOS2 Gene

Domains & Families for SOS2 Gene

Gene Families for SOS2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for SOS2 Gene

GenScript: Design optimal peptide antigens:
  • Son of sevenless homolog 2 (Drosophila) (B7ZKT5_HUMAN)
  • Son of sevenless homolog 2 (SOS2_HUMAN)
genes like me logo Genes that share domains with SOS2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SOS2 Gene

Function for SOS2 Gene

Molecular function for SOS2 Gene

UniProtKB/Swiss-Prot Function:
Promotes the exchange of Ras-bound GDP by GTP.
GENATLAS Biochemistry:
Drosophila son of sevenless homolog 2, regulator of Ras

Phenotypes From GWAS Catalog for SOS2 Gene

Gene Ontology (GO) - Molecular Function for SOS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005089 Rho guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 7629138
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with SOS2: view
genes like me logo Genes that share phenotypes with SOS2: view

Human Phenotype Ontology for SOS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SOS2 Gene

MGI Knock Outs for SOS2:

Animal Model Products

CRISPR Products

Clone Products

  • Addgene plasmids for SOS2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SOS2 Gene

Localization for SOS2 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOS2 gene
Compartment Confidence
cytosol 4
nucleus 3
plasma membrane 1
cytoskeleton 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SOS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000786 nucleosome IEA --
GO:0005622 intracellular IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with SOS2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for SOS2 Gene

Pathways & Interactions for SOS2 Gene

PathCards logo

SuperPathways for SOS2 Gene

SuperPathway Contained pathways
1 Common Cytokine Receptor Gamma-Chain Family Signaling Pathways
2 Regulation of lipid metabolism Insulin signaling-generic cascades
3 GPCR Pathway
4 IL-2 Pathway
5 Development Angiotensin activation of ERK
genes like me logo Genes that share pathways with SOS2: view

SIGNOR curated interactions for SOS2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for SOS2 Gene

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:0035023 regulation of Rho protein signal transduction IEA --
GO:0043065 positive regulation of apoptotic process TAS --
GO:0051056 regulation of small GTPase mediated signal transduction TAS --
genes like me logo Genes that share ontologies with SOS2: view

Drugs & Compounds for SOS2 Gene

(5) Drugs for SOS2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0

(2) Additional Compounds for SOS2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with SOS2: view

Transcripts for SOS2 Gene

mRNA/cDNA for SOS2 Gene

CRISPR Products

Clone Products

  • Addgene plasmids for SOS2

Alternative Splicing Database (ASD) splice patterns (SP) for SOS2 Gene

No ASD Table

Relevant External Links for SOS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SOS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SOS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SOS2 Gene

This gene is overexpressed in Fetal Brain (13.6), Heart (11.4), Testis (9.6), and Spleen (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SOS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of SOS2 Gene:


SOURCE GeneReport for Unigene cluster for SOS2 Gene:


Evidence on tissue expression from TISSUES for SOS2 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SOS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
  • aorta
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • abdominal wall
  • liver
  • spleen
  • pelvis
  • placenta
  • testicle
  • uterus
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with SOS2: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for SOS2 Gene

Orthologs for SOS2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for SOS2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia SOS2 33 32
  • 99.26 (n)
(Canis familiaris)
Mammalia SOS2 33 32
  • 93.71 (n)
(Bos Taurus)
Mammalia SOS2 33 32
  • 93.21 (n)
(Monodelphis domestica)
Mammalia SOS2 33
  • 91 (a)
(Ornithorhynchus anatinus)
Mammalia SOS2 33
  • 90 (a)
(Mus musculus)
Mammalia Sos2 17 33 32
  • 88.58 (n)
(Rattus norvegicus)
Mammalia Sos2 32
  • 87.94 (n)
(Gallus gallus)
Aves SOS2 33 32
  • 79.17 (n)
(Anolis carolinensis)
Reptilia SOS2 33
  • 86 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia sos2 32
  • 75.93 (n)
(Danio rerio)
Actinopterygii sos2 33 32
  • 67.68 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009180 32
  • 53.36 (n)
fruit fly
(Drosophila melanogaster)
Insecta Sos 33
  • 38 (a)
(Caenorhabditis elegans)
Secernentea sos-1 33
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CDC25 33
  • 16 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 51 (a)
Species where no ortholog for SOS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SOS2 Gene

Gene Tree for SOS2 (if available)
Gene Tree for SOS2 (if available)
Evolutionary constrained regions (ECRs) for SOS2: view image

Paralogs for SOS2 Gene

(2) SIMAP similar genes for SOS2 Gene using alignment to 4 proteins:

  • G3V5W3_HUMAN
genes like me logo Genes that share paralogs with SOS2: view

Variants for SOS2 Gene

Sequence variations from dbSNP and Humsavar for SOS2 Gene

SNP ID Clin Chr 14 pos Variation AA Info Type
rs1030329651 likely-benign, Noonan syndrome 9 50,204,350(-) T/C coding_sequence_variant, synonymous_variant
rs10658395 benign, not specified, Noonan syndrome 9 50,118,857(-) AAAAAAAAAA/AAAAAAAAA/AAAAAAAAAAA/AAAAAAAAAAAA/AAAAAAAAAAAAA intron_variant
rs111961549 likely-benign, Noonan syndrome 9, not specified 50,161,607(-) T/C coding_sequence_variant, synonymous_variant
rs113460230 benign, Noonan syndrome 9, not provided 50,188,620(-) T/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs114711076 likely-benign, not provided, Noonan syndrome 9 50,150,075(-) C/G coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for SOS2 Gene

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

Variation tolerance for SOS2 Gene

Residual Variation Intolerance Score: 18.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.57; 56.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOS2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOS2 Gene

Disorders for SOS2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for SOS2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
noonan syndrome 9
  • ns9
noonan syndrome 1
  • ns1
- elite association - COSMIC cancer census association via MalaCards
Search SOS2 in MalaCards View complete list of genes associated with diseases


  • Noonan syndrome 9 (NS9) [MIM:616559]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269 PubMed:25795793}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SOS2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SOS2: view

No data available for Genatlas for SOS2 Gene

Publications for SOS2 Gene

  1. Candidate gene association study of insulin signaling genes and Alzheimer's disease: evidence for SOS2, PCK1, and PPARgamma as susceptibility loci. (PMID: 17440948) Hamilton G … Lovestone S (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 23 43 56
  2. Mammalian homologues of the Drosophila Son of sevenless gene map to murine chromosomes 17 and 12 and to human chromosomes 2 and 14, respectively. (PMID: 8276400) Webb GC … Bowtell DD (Genomics 1993) 2 3 23 56
  3. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. (PMID: 25795793) Yamamoto GL … Bertola DR (Journal of medical genetics 2015) 3 4 56
  4. Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 43 56
  5. Differential interactions of human Sos1 and Sos2 with Grb2. (PMID: 7629138) Yang SS … Bar-Sagi D (The Journal of biological chemistry 1995) 3 23 56

Products for SOS2 Gene

Sources for SOS2 Gene