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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
External Ids for SOS2 Gene
- HGNC: 11188
- Entrez Gene: 6655
- Ensembl: ENSG00000100485
- OMIM: 601247
- UniProtKB: Q07890
Previous GeneCards Identifiers for SOS2 Gene
- GC14M047905
- GC14M044379
- GC14M048573
- GC14M048575
- GC14M049654
- GC14M050583
- GC14M030709
Summaries 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 Signaling by GPCR and Signaling by Robo receptor. 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
-
Promotes the exchange of Ras-bound GDP by GTP.
Additional gene information for SOS2 Gene
- Monarch Initiative
- Search for SOS2 at DataMed
- Search for SOS2 at HumanCyc
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
- 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
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOS2
- 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
- chr14:50,117,128-50,231,878
- (GRCh38/hg38)
- Size:
- 114,751 bases
- Orientation:
- Minus strand
- chr14:50,583,846-50,698,276
- (GRCh37/hg19)
- Size:
- 114,431 bases
- Orientation:
- Minus strand
Genomic View for SOS2 Gene
Genes around SOS2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 14q21.3 by HGNC
- 14q21.3 by Entrez Gene
- 14q21.3 by Ensembl
SOS2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SOS2 Gene
Proteins for SOS2 Gene
-
Protein details for SOS2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q07890-SOS2_HUMAN
- Recommended name:
- Son of sevenless homolog 2
- Protein Accession:
- Q07890
- B7ZKT6
- D3DSB4
- Q15503
- Q17RN1
Protein attributes for SOS2 Gene
- Size:
- 1332 amino acids
- Molecular mass:
- 152979 Da
- Quaternary structure:
- No Data Available
Protein Expression for SOS2 Gene
Post-translational modifications for SOS2 Gene
Other Protein References for SOS2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-SOS2 (aa 312-420) polyclonal antibody
- GeneTex Anti-SOS2 antibody
- Novus Biologicals Antibodies for SOS2
-
Abcam antibodies for SOS2
- Invitrogen Antibodies for SOS2 (AFLGC-SOS2)
-
Boster Bio Antibodies for SOS2
-
Santa Cruz Biotechnology (SCBT) Antibodies for SOS2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for SOS2
- Origene Custom Protein Services for SOS2
Assay Products
- antibodies-online: Search results for available SOS2 related products ranked by validation data
-
Signalway ELISA kits for SOS2
No data available for DME Specific Peptides for SOS2 Gene
Domains & Families for SOS2 Gene
Gene Families for SOS2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Protein Domains for SOS2 Gene
- Blocks:
-
- DH domain
- Pleckstrin-like
- Guanine-nucleotide dissociation stimulator CDC25
- InterPro:
- ProtoNet:
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)
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
| 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 | -- |
Phenotypes for SOS2 Gene
- MGI mutant phenotypes for SOS2:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for SOS2:
-
- Increased G2M DNA content, increased 8N DNA content
- Increased shRNA abundance (Z-score > 2)
- Negative genetic interaction between BLM-/- and BLM+/+
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Reduced mammosphere formation
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Mildly decreased CFP-tsO45G cell surface transport
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased viability after Maraba virus infection
Animal Models for SOS2 Gene
- MGI Knock Outs for SOS2:
-
- Sos2 Sos2<tm1Esn>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SOS2 - Select products 50% OFF >
- * SOS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SOS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOS2
- genomics-online: gRNA clones - Search for available SOS2 gRNA products
- Overview of 88 available SOS2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOS2
miRNA for SOS2 Gene
- miRTarBase miRNAs that target SOS2
-
- hsa-mir-335-5p (MIRT019010)
- hsa-mir-124-3p (MIRT023126)
- hsa-mir-1-3p (MIRT046544)
- hsa-mir-30e-3p (MIRT653229)
- hsa-mir-30d-3p (MIRT653230)
- hsa-mir-30a-3p (MIRT653231)
- hsa-mir-211-5p (MIRT653232)
- hsa-mir-204-5p (MIRT653233)
- hsa-mir-4276 (MIRT653234)
- hsa-mir-513b-5p (MIRT653235)
- hsa-mir-6832-3p (MIRT653236)
- hsa-mir-6866-3p (MIRT653237)
- hsa-mir-4719 (MIRT653238)
- hsa-mir-6835-3p (MIRT653239)
- hsa-mir-188-5p (MIRT653240)
- hsa-mir-548e-5p (MIRT653241)
- hsa-mir-152-3p (MIRT653242)
- hsa-mir-148b-3p (MIRT653243)
- hsa-mir-148a-3p (MIRT653244)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOS2
- Browse OriGene Inhibitory RNA Products For SOS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOS2
- genomics-online: shRNA clones - Search for available SOS2 shRNA products
- Overview of 88 available SOS2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SOS2 - Select products 50% OFF >
- * SOS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SOS2
- Addgene plasmids for SOS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOS2
- genomics-online: cdna clones - Search for available SOS2 CDNA products
- Overview of 88 available SOS2 gene related products
- orf clones - Search for available SOS2 ORF products
- Overview of 88 available SOS2 gene related products
Cell Line Products
-
Horizon Cell Lines for SOS2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SOS2 Gene
Localization for SOS2 Gene
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Nucleoplasm (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000786 | nucleosome | IEA | -- |
| GO:0005622 | intracellular | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
No data available for Subcellular locations from UniProtKB/Swiss-Prot for SOS2 Gene
Pathways & Interactions for SOS2 Gene
| 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
|
Pathways by source for SOS2 Gene
6 BioSystems pathways for SOS2 Gene
14 Reactome pathways for SOS2 Gene
1 PharmGKB pathway for SOS2 Gene
46 KEGG pathways for SOS2 Gene
76 GeneGo (Thomson Reuters) pathways for SOS2 Gene
- Apoptosis and survival BAD phosphorylation
- Apoptosis and survival NGF signaling pathway
- Apoptosis and survival Role of CDK5 in neuronal death and survival
- Cell adhesion PLAU signaling
- Chemotaxis CXCR4 signaling pathway
12 R&D Systems pathways for SOS2 Gene
73 Qiagen pathways for SOS2 Gene
- Activation of cAMP-Dependent PKA
- Aldosterone Signaling in Epithelial Cells
- BAD Phosphorylation
- BDNF Pathway
- Beta-Adrenergic Signaling
1 GeneTex pathway for SOS2 Gene
Interacting Proteins for SOS2 Gene
Selected Interacting proteins:
Q07890-SOS2_HUMAN
ENSP00000216373
for SOS2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SOS2
| 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 | -- |
Drugs & Compounds for SOS2 Gene
| 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 |
|---|
Transcripts for SOS2 Gene
mRNA/cDNA for SOS2 Gene
- 1 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000216373 5508 bps (ENST00000216373.10)
- ENST00000543680 3960 bps (ENST00000543680.5)
- ENST00000555666 679 bps (ENST00000555666.1)
- ENST00000555794 2278 bps (ENST00000555794.2)
- ENST00000556452 398 bps (ENST00000556452.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for SOS2 - Select products 50% OFF >
- * SOS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for SOS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SOS2
- genomics-online: gRNA clones - Search for available SOS2 gRNA products
- Overview of 88 available SOS2 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for SOS2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SOS2
- Browse OriGene Inhibitory RNA Products For SOS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOS2
- genomics-online: shRNA clones - Search for available SOS2 shRNA products
- Overview of 88 available SOS2 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for SOS2 - Select products 50% OFF >
- * SOS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for SOS2
- Addgene plasmids for SOS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SOS2
- genomics-online: cdna clones - Search for available SOS2 CDNA products
- Overview of 88 available SOS2 gene related products
- orf clones - Search for available SOS2 ORF products
- Overview of 88 available SOS2 gene related products
Relevant External Links for SOS2 Gene
- GeneLoc Exon Structure for
- SOS2
Expression for SOS2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Blood (Hematopoietic System)
- Granulocytes Peripheral Blood
-
Pancreas (Endocrine System)
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SOS2
SOURCE GeneReport for Unigene cluster for SOS2 Gene:
Hs.291533Evidence 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
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
Regions:
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
Thorax:
- aorta
- breast
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- liver
- spleen
Pelvis:
- pelvis
- placenta
- testicle
- uterus
Limb:
- 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
General:
- blood
- blood vessel
- bone marrow
- coagulation system
- hair
- lymph node
- lymph vessel
- peripheral nervous system
- skin
- spinal column
- spinal cord
- vertebrae
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for SOS2
- genomics-online: primer clones - Search for available SOS2 Primer products
- Overview of 88 available SOS2 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | SOS2 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | SOS2 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | SOS2 31 30 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | SOS2 31 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | SOS2 31 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Sos2 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Sos2 30 |
|
||
| chicken (Gallus gallus) |
Aves | SOS2 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | SOS2 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | sos2 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | sos2 31 30 |
|
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 |
- 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
- ENSEMBL:
- Gene Tree for SOS2 (if available)
- TreeFam:
- Gene Tree for SOS2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SOS2: view image
Paralogs for SOS2 Gene
Paralogs for SOS2 Gene
(2) SIMAP similar genes for SOS2 Gene using alignment to 4 proteins:
- SOS2_HUMAN
- B7ZKT5_HUMAN
- B7ZKT6_HUMAN
- G3V5W3_HUMAN
Variants for SOS2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOS2 Gene
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOS2 Gene
Disorders for SOS2 Gene
(14) MalaCards diseases for SOS2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| noonan syndrome 9 |
|
|
| noonan syndrome 1 |
|
|
| glandular tularemia |
|
|
| juvenile myelomonocytic leukemia |
|
|
| typhoidal tularemia |
|
|
Search SOS2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SOS2_HUMAN- 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
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for SOS2 Gene
Publications for SOS2 Gene
- 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 41 54
- 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 54
- Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. (PMID: 25795793) Yamamoto GL … Bertola DR (Journal of medical genetics 2015) 3 4 54
- Mutation of ARHGAP9 in patients with coronary spastic angina. (PMID: 19911011) Takefuji M … Kaibuchi K (Journal of human genetics 2010) 3 41 54
- Differential interactions of human Sos1 and Sos2 with Grb2. (PMID: 7629138) Yang SS … Bar-Sagi D (The Journal of biological chemistry 1995) 3 23 54
ExternalLinks
Products for SOS2 Gene
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- antibodies-online: Show 17 available SOS2 Antibodies ranked by validation data
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