• Gene id: 6655

Gene Summary

• Gene Symbol: SOS2   Gene   UCSC   Ensembl
• Aliases: NS9, SOS-2
• Gene name: SOS Ras/Rho guanine nucleotide exchange factor 2
• Alternate names: son of sevenless homolog 2, guanine nucleotide releasing factor,
• Gene location: 14q21.3 (50231577: 50117129)     Exons: 12     NC_000014.9
• Gene summary(Entrez): 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]
• OMIM: 601247

Protein Summary

• Protein general information: Q07890  
  • Name: Son of sevenless homolog 2 (SOS 2)
  • Length: 1332  
  • Mass: 152979
• Sequence:

  MQQAPQPYEFFSEENSPKWRGLLVSALRKVQEQVHPTLSANEESLYYIEELIFQLLNKLCMAQPRTVQDVEERVQ
  KTFPHPIDKWAIADAQSAIEKRKRRNPLLLPVDKIHPSLKEVLGYKVDYHVSLYIVAVLEYISADILKLAGNYVF
  NIRHYEISQQDIKVSMCADKVLMDMFDQDDIGLVSLCEDEPSSSGELNYYDLVRTEIAEERQYLRELNMIIKVFR
  EAFLSDRKLFKPSDIEKIFSNISDIHELTVKLLGLIEDTVEMTDESSPHPLAGSCFEDLAEEQAFDPYETLSQDI
  LSPEFHEHFNKLMARPAVALHFQSIADGFKEAVRYVLPRLMLVPVYHCWHYFELLKQLKACSEEQEDRECLNQAI
  TALMNLQGSMDRIYKQYSPRRRPGDPVCPFYSHQLRSKHLAIKKMNEIQKNIDGWEGKDIGQCCNEFIMEGPLTR
  IGAKHERHIFLFDGLMISCKPNHGQTRLPGYSSAEYRLKEKFVMRKIQICDKEDTCEHKHAFELVSKDENSIIFA
  AKSAEEKNNWMAALISLHYRSTLDRMLDSVLLKEENEQPLRLPSPEVYRFVVKDSEENIVFEDNLQSRSGIPIIK
  GGTVVKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLLIERFEIPEPEPTDADKLAIEKGEQPISADLKRF
  RKEYVQPVQLRILNVFRHWVEHHFYDFERDLELLERLESFISSVRGKAMKKWVESIAKIIRRKKQAQANGVSHNI
  TFESPPPPIEWHISKPGQFETFDLMTLHPIEIARQLTLLESDLYRKVQPSELVGSVWTKEDKEINSPNLLKMIRH
  TTNLTLWFEKCIVEAENFEERVAVLSRIIEILQVFQDLNNFNGVLEIVSAVNSVSVYRLDHTFEALQERKRKILD
  EAVELSQDHFKKYLVKLKSINPPCVPFFGIYLTNILKTEEGNNDFLKKKGKDLINFSKRRKVAEITGEIQQYQNQ
  PYCLRIEPDMRRFFENLNPMGSASEKEFTDYLFNKSLEIEPRNCKQPPRFPRKSTFSLKSPGIRPNTGRHGSTSG
  TLRGHPTPLEREPCKISFSRIAETELESTVSAPTSPNTPSTPPVSASSDLSVFLDVDLNSSCGSNSIFAPVLLPH
  SKSFFSSCGSLHKLSEEPLIPPPLPPRKKFDHDASNSKGNMKSDDDPPAIPPRQPPPPKVKPRVPVPTGAFDGPL
  HSPPPPPPRDPLPDTPPPVPLRPPEHFINCPFNLQPPPLGHLHRDSDWLRDISTCPNSPSTPPSTPSPRVPRRCY
  VLSSSQNNLAHPPAPPVPPRQNSSPHLPKLPPKTYKRELSHPPLYRLPLLENAETPQ

• Structural information:
  • Protein Domains: (198..38-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (442..54-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (595..73-)
    (/note="N-terminal-Ras-GEF)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU0013-)
  • Interpro: IPR035899  IPR000219  IPR009072  IPR007125  IPR011993   IPR001849  IPR008937  IPR000651  IPR019804  IPR023578  IPR001895  IPR036964  
  • Prosite: PS50010 PS50003 PS00720 PS50009 PS50212
  • CDD: cd00155 cd06224 cd00160
  • PDB: 6EIE
  • PDBsum: 6EIE
  • STRING: ENSP00000216373
• Other Databases: GeneCards:  SOS2  Malacards:  SOS2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000786	nucleosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051057	positive regulation of small GTPase mediated signal transduction	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04010	MAPK signaling pathway
hsa05206	MicroRNAs in cancer
hsa04714	Thermogenesis
hsa04014	Ras signaling pathway
hsa04810	Regulation of actin cytoskeleton
hsa05163	Human cytomegalovirus infection
hsa04062	Chemokine signaling pathway
hsa04510	Focal adhesion
hsa05034	Alcoholism
hsa05205	Proteoglycans in cancer
hsa04150	mTOR signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04072	Phospholipase D signaling pathway
hsa04630	JAK-STAT signaling pathway
hsa04910	Insulin signaling pathway
hsa05226	Gastric cancer
hsa05161	Hepatitis B
hsa05224	Breast cancer
hsa05160	Hepatitis C
hsa04926	Relaxin signaling pathway
hsa04722	Neurotrophin signaling pathway
hsa04068	FoxO signaling pathway
hsa04935	Growth hormone synthesis, secretion and action
hsa04915	Estrogen signaling pathway
hsa04650	Natural killer cell mediated cytotoxicity
hsa05231	Choline metabolism in cancer
hsa04660	T cell receptor signaling pathway
hsa04662	B cell receptor signaling pathway
hsa04912	GnRH signaling pathway
hsa04540	Gap junction
hsa04012	ErbB signaling pathway
hsa01522	Endocrine resistance
hsa05210	Colorectal cancer
hsa05220	Chronic myeloid leukemia
hsa05215	Prostate cancer
hsa05214	Glioma
hsa04664	Fc epsilon RI signaling pathway
hsa01521	EGFR tyrosine kinase inhibitor resistance
hsa04917	Prolactin signaling pathway
hsa05221	Acute myeloid leukemia
hsa05211	Renal cell carcinoma
hsa05223	Non-small cell lung cancer
hsa05213	Endometrial cancer

Diseases

Associated diseases	References
Noonan syndrome and related disorders	KEGG:H00523
Noonan syndrome	KEGG:H01738
Noonan syndrome and related disorders	KEGG:H00523
Noonan syndrome	KEGG:H01738
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881