SOS2 (SOS Ras/Rho guanine nucleotide exchange factor 2)

Gene

• Entrez ID: 6655
• Gene name: SOS Ras/Rho guanine nucleotide exchange factor 2
• Gene symbol: SOS2
• Synonyms: NS9, SOS-2
• Chromosome: 14
• Chromosome location: 14q21.3
• Summary: 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs775506222	AAT>-	Conflicting-interpretations-of-pathogenicity	Inframe deletion, coding sequence variant
rs797045167	A>C,G,T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs869320687	G>C	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1594982548	T>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1595001710	G>T	Likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019010	hsa-miR-335-5p	Microarray	18185580
MIRT023126	hsa-miR-124-3p	Microarray	18668037
MIRT046544	hsa-miR-1-3p	CLASH	23622248
MIRT653229	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT653230	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT653231	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT653232	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT653233	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT653234	hsa-miR-4276	HITS-CLIP	23824327
MIRT653235	hsa-miR-513b-5p	HITS-CLIP	23824327
MIRT653236	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT653237	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT653238	hsa-miR-4719	HITS-CLIP	23824327
MIRT653239	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT653240	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT653241	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT653242	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT653243	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT653244	hsa-miR-148a-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001782	Process	B cell homeostasis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	7629138, 14679214, 17474147, 19380743, 20936779, 21706016, 21988832, 28514442, 31980649
GO:0005829	Component	Cytosol	TAS
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007264	Process	Small GTPase mediated signal transduction	IEA
GO:0033081	Process	Regulation of T cell differentiation in thymus	IEA
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0043065	Process	Positive regulation of apoptotic process	TAS
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0050790	Process	Regulation of catalytic activity	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051057	Process	Positive regulation of small GTPase mediated signal transduction	IEA
GO:2000973	Process	Regulation of pro-B cell differentiation	IEA

Other IDs

• MIM: 601247
• HGNC: 11188
• e!Ensembl: ENSG00000100485

Protein

• UniProt ID: Q07890
• Protein name: Son of sevenless homolog 2 (SOS-2)
• Protein function: Promotes the exchange of Ras-bound GDP by GTP.
• PDB: 6EIE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00125	Histone	54 → 169	Core histone H2A/H2B/H3/H4	Domain
  PF00621	RhoGEF	203 → 386	RhoGEF domain	Domain
  PF00169	PH	426 → 544	PH domain	Domain
  PF00618	RasGEF_N	598 → 715	RasGEF N-terminal motif	Domain
  PF00617	RasGEF	781 → 960	RasGEF domain	Family

• Sequence:

  MQQAPQPYEFFSEENSPKWRGLLVSALRKVQEQVHPTLSANEESLYYIEELIFQLLNKLC
  MAQPRTVQDVEERVQKTFPHPIDKWAIADAQSAIEKRKRRNPLLLPVDKIHPSLKEVLGY
  KVDYHVSLYIVAVLEYISADILKLAGNYVFNIRHYEISQQDIKVSMCADKVLMDMFDQDD
  IGLVSLCEDEPSSSGELNYYDLVRTEIAEERQYLRELNMIIKVFREAFLSDRKLFKPSDI
  EKIFSNISDIHELTVKLLGLIEDTVEMTDESSPHPLAGSCFEDLAEEQAFDPYETLSQDI
  LSPEFHEHFNKLMARPAVALHFQSIADGFKEAVRYVLPRLMLVPVYHCWHYFELLKQLKA
  CSEEQEDRECLNQAITALMNLQGSMDRIYKQYSPRRRPGDPVCPFYSHQLRSKHLAIKKM
  NEIQKNIDGWEGKDIGQCCNEFIMEGPLTRIGAKHERHIFLFDGLMISCKPNHGQTRLPG
  YSSAEYRLKEKFVMRKIQICDKEDTCEHKHAFELVSKDENSIIFAAKSAEEKNNWMAALI
  SLHYRSTLDRMLDSVLLKEENEQPLRLPSPEVYRFVVKDSEENIVFEDNLQSRSGIPIIK
  GGTVVKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLLIERFEIPEPEPTDADKLA
  IEKGEQPISADLKRFRKEYVQPVQLRILNVFRHWVEHHFYDFERDLELLERLESFISSVR
  GKAMKKWVESIAKIIRRKKQAQANGVSHNITFESPPPPIEWHISKPGQFETFDLMTLHPI
  EIARQLTLLESDLYRKVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKCIVEA
  ENFEERVAVLSRIIEILQVFQDLNNFNGVLEIVSAVNSVSVYRLDHTFEALQERKRKILD
  EAVELSQDHFKKYLVKLKSINPPCVPFFGIYLTNILKTEEGNNDFLKKKGKDLINFSKRR
  KVAEITGEIQQYQNQPYCLRIEPDMRRFFENLNPMGSASEKEFTDYLFNKSLEIEPRNCK
  QPPRFPRKSTFSLKSPGIRPNTGRHGSTSGTLRGHPTPLEREPCKISFSRIAETELESTV
  SAPTSPNTPSTPPVSASSDLSVFLDVDLNSSCGSNSIFAPVLLPHSKSFFSSCGSLHKLS
  EEPLIPPPLPPRKKFDHDASNSKGNMKSDDDPPAIPPRQPPPPKVKPRVPVPTGAFDGPL
  HSPPPPPPRDPLPDTPPPVPLRPPEHFINCPFNLQPPPLGHLHRDSDWLRDISTCPNSPS
  TPPSTPSPRVPRRCYVLSSSQNNLAHPPAPPVPPRQNSSPHLPKLPPKTYKRELSHPPLY
  RLPLLENAETPQ

• Sequence length: 1332