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

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 6655
• Gene name: SOS Ras/Rho guanine nucleotide exchange factor 2
• Gene symbol: SOS2
• Synonyms (NCBI Gene): 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 Show/Hide all (262)

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
MIRT653244	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT653243	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT653242	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT653241	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT653239	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT653240	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT653237	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT653238	hsa-miR-4719	HITS-CLIP	23824327
MIRT653236	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT653235	hsa-miR-513b-5p	HITS-CLIP	23824327
MIRT653234	hsa-miR-4276	HITS-CLIP	23824327
MIRT653233	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT653232	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT653231	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT653230	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT653229	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT653244	hsa-miR-148a-3p	Luciferase reporter assay, qRT-PCR, Western blotting	32667746
MIRT653244	hsa-miR-148a-3p	HITS-CLIP	23824327
MIRT653243	hsa-miR-148b-3p	HITS-CLIP	23824327
MIRT653242	hsa-miR-152-3p	HITS-CLIP	23824327
MIRT653241	hsa-miR-548e-5p	HITS-CLIP	23824327
MIRT653239	hsa-miR-6835-3p	HITS-CLIP	23824327
MIRT653240	hsa-miR-188-5p	HITS-CLIP	23824327
MIRT653237	hsa-miR-6866-3p	HITS-CLIP	23824327
MIRT653238	hsa-miR-4719	HITS-CLIP	23824327
MIRT653236	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT653235	hsa-miR-513b-5p	HITS-CLIP	23824327
MIRT653234	hsa-miR-4276	HITS-CLIP	23824327
MIRT653233	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT653232	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT653231	hsa-miR-30a-3p	HITS-CLIP	23824327
MIRT653230	hsa-miR-30d-3p	HITS-CLIP	23824327
MIRT653229	hsa-miR-30e-3p	HITS-CLIP	23824327
MIRT1379986	hsa-miR-1179	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379988	hsa-miR-1245b-5p	CLIP-seq
MIRT1379989	hsa-miR-1252	CLIP-seq
MIRT1379990	hsa-miR-1271	CLIP-seq
MIRT1379991	hsa-miR-1276	CLIP-seq
MIRT1379992	hsa-miR-130a	CLIP-seq
MIRT1379993	hsa-miR-130b	CLIP-seq
MIRT1379994	hsa-miR-148a	CLIP-seq
MIRT1379995	hsa-miR-148b	CLIP-seq
MIRT1379996	hsa-miR-152	CLIP-seq
MIRT1379997	hsa-miR-15a	CLIP-seq
MIRT1379998	hsa-miR-15b	CLIP-seq
MIRT1379999	hsa-miR-16	CLIP-seq
MIRT1380000	hsa-miR-182	CLIP-seq
MIRT1380001	hsa-miR-195	CLIP-seq
MIRT1380002	hsa-miR-199a-3p	CLIP-seq
MIRT1380003	hsa-miR-199b-3p	CLIP-seq
MIRT1380004	hsa-miR-19a	CLIP-seq
MIRT1380005	hsa-miR-19b	CLIP-seq
MIRT1380006	hsa-miR-204	CLIP-seq
MIRT1380007	hsa-miR-208a	CLIP-seq
MIRT1380008	hsa-miR-208b	CLIP-seq
MIRT1380009	hsa-miR-21	CLIP-seq
MIRT1380010	hsa-miR-211	CLIP-seq
MIRT1380011	hsa-miR-214	CLIP-seq
MIRT1380012	hsa-miR-224	CLIP-seq
MIRT1380013	hsa-miR-2467-3p	CLIP-seq
MIRT1380014	hsa-miR-301a	CLIP-seq
MIRT1380015	hsa-miR-301b	CLIP-seq
MIRT1380016	hsa-miR-3119	CLIP-seq
MIRT1380017	hsa-miR-3129-5p	CLIP-seq
MIRT1380018	hsa-miR-3140-3p	CLIP-seq
MIRT1380019	hsa-miR-3142	CLIP-seq
MIRT1380020	hsa-miR-3176	CLIP-seq
MIRT1380021	hsa-miR-330-3p	CLIP-seq
MIRT1380022	hsa-miR-3591-3p	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380024	hsa-miR-3617	CLIP-seq
MIRT1380025	hsa-miR-3619-5p	CLIP-seq
MIRT1380026	hsa-miR-3622a-3p	CLIP-seq
MIRT1380027	hsa-miR-3622b-3p	CLIP-seq
MIRT1380028	hsa-miR-3653	CLIP-seq
MIRT1380029	hsa-miR-3658	CLIP-seq
MIRT1380030	hsa-miR-3666	CLIP-seq
MIRT1380031	hsa-miR-3678-3p	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT1380033	hsa-miR-383	CLIP-seq
MIRT1380034	hsa-miR-3922-3p	CLIP-seq
MIRT1380035	hsa-miR-424	CLIP-seq
MIRT1380036	hsa-miR-4291	CLIP-seq
MIRT1380037	hsa-miR-4295	CLIP-seq
MIRT1380038	hsa-miR-4311	CLIP-seq
MIRT1380039	hsa-miR-450b-5p	CLIP-seq
MIRT1380040	hsa-miR-4511	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT1380042	hsa-miR-454	CLIP-seq
MIRT1380043	hsa-miR-4661-3p	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT1380045	hsa-miR-4680-5p	CLIP-seq
MIRT1380046	hsa-miR-4714-5p	CLIP-seq
MIRT1380047	hsa-miR-4753-5p	CLIP-seq
MIRT1380048	hsa-miR-4772-5p	CLIP-seq
MIRT1380049	hsa-miR-4773	CLIP-seq
MIRT1380050	hsa-miR-4793-5p	CLIP-seq
MIRT1380051	hsa-miR-497	CLIP-seq
MIRT1380052	hsa-miR-499-5p	CLIP-seq
MIRT1380053	hsa-miR-507	CLIP-seq
MIRT1380054	hsa-miR-508-3p	CLIP-seq
MIRT1380055	hsa-miR-511	CLIP-seq
MIRT1380056	hsa-miR-520d-5p	CLIP-seq
MIRT1380057	hsa-miR-524-5p	CLIP-seq
MIRT1380058	hsa-miR-544b	CLIP-seq
MIRT1380059	hsa-miR-545	CLIP-seq
MIRT1380060	hsa-miR-548a-5p	CLIP-seq
MIRT1380061	hsa-miR-548ab	CLIP-seq
MIRT1380062	hsa-miR-548ak	CLIP-seq
MIRT1380063	hsa-miR-548b-3p	CLIP-seq
MIRT1380064	hsa-miR-548b-5p	CLIP-seq
MIRT1380065	hsa-miR-548c-3p	CLIP-seq
MIRT1380066	hsa-miR-548c-5p	CLIP-seq
MIRT1380067	hsa-miR-548d-5p	CLIP-seq
MIRT1380068	hsa-miR-548h	CLIP-seq
MIRT1380069	hsa-miR-548i	CLIP-seq
MIRT1380070	hsa-miR-548j	CLIP-seq
MIRT1380071	hsa-miR-548k	CLIP-seq
MIRT1380072	hsa-miR-548l	CLIP-seq
MIRT1380073	hsa-miR-548w	CLIP-seq
MIRT1380074	hsa-miR-548y	CLIP-seq
MIRT1380075	hsa-miR-557	CLIP-seq
MIRT1380076	hsa-miR-559	CLIP-seq
MIRT1380077	hsa-miR-562	CLIP-seq
MIRT1380078	hsa-miR-579	CLIP-seq
MIRT1380079	hsa-miR-582-5p	CLIP-seq
MIRT1380080	hsa-miR-583	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT1380082	hsa-miR-590-5p	CLIP-seq
MIRT1380083	hsa-miR-641	CLIP-seq
MIRT1380084	hsa-miR-668	CLIP-seq
MIRT1380085	hsa-miR-761	CLIP-seq
MIRT1380086	hsa-miR-802	CLIP-seq
MIRT1380087	hsa-miR-885-3p	CLIP-seq
MIRT1380088	hsa-miR-922	CLIP-seq
MIRT1380089	hsa-miR-936	CLIP-seq
MIRT1380090	hsa-miR-96	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379990	hsa-miR-1271	CLIP-seq
MIRT1380000	hsa-miR-182	CLIP-seq
MIRT1553943	hsa-miR-193a-3p	CLIP-seq
MIRT1553944	hsa-miR-193b	CLIP-seq
MIRT1380020	hsa-miR-3176	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT1380034	hsa-miR-3922-3p	CLIP-seq
MIRT1380043	hsa-miR-4661-3p	CLIP-seq
MIRT1380087	hsa-miR-885-3p	CLIP-seq
MIRT1553945	hsa-miR-892b	CLIP-seq
MIRT1380090	hsa-miR-96	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379989	hsa-miR-1252	CLIP-seq
MIRT2113630	hsa-miR-135a	CLIP-seq
MIRT2113631	hsa-miR-135b	CLIP-seq
MIRT2113632	hsa-miR-154	CLIP-seq
MIRT1379997	hsa-miR-15a	CLIP-seq
MIRT1379998	hsa-miR-15b	CLIP-seq
MIRT1379999	hsa-miR-16	CLIP-seq
MIRT1380001	hsa-miR-195	CLIP-seq
MIRT1380007	hsa-miR-208a	CLIP-seq
MIRT1380008	hsa-miR-208b	CLIP-seq
MIRT1380011	hsa-miR-214	CLIP-seq
MIRT2113633	hsa-miR-3123	CLIP-seq
MIRT2113634	hsa-miR-3149	CLIP-seq
MIRT1380022	hsa-miR-3591-3p	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380024	hsa-miR-3617	CLIP-seq
MIRT1380025	hsa-miR-3619-5p	CLIP-seq
MIRT1380026	hsa-miR-3622a-3p	CLIP-seq
MIRT1380027	hsa-miR-3622b-3p	CLIP-seq
MIRT1380029	hsa-miR-3658	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT2113635	hsa-miR-3925-5p	CLIP-seq
MIRT1380035	hsa-miR-424	CLIP-seq
MIRT2113636	hsa-miR-4274	CLIP-seq
MIRT1380036	hsa-miR-4291	CLIP-seq
MIRT2113637	hsa-miR-4493	CLIP-seq
MIRT2113638	hsa-miR-4519	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT2113639	hsa-miR-4524	CLIP-seq
MIRT2113640	hsa-miR-4635	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT1380051	hsa-miR-497	CLIP-seq
MIRT1380052	hsa-miR-499-5p	CLIP-seq
MIRT1380055	hsa-miR-511	CLIP-seq
MIRT2113641	hsa-miR-513b	CLIP-seq
MIRT1380056	hsa-miR-520d-5p	CLIP-seq
MIRT1380057	hsa-miR-524-5p	CLIP-seq
MIRT1380058	hsa-miR-544b	CLIP-seq
MIRT1380059	hsa-miR-545	CLIP-seq
MIRT1380065	hsa-miR-548c-3p	CLIP-seq
MIRT1380071	hsa-miR-548k	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT1380083	hsa-miR-641	CLIP-seq
MIRT1380085	hsa-miR-761	CLIP-seq
MIRT1380086	hsa-miR-802	CLIP-seq
MIRT1380088	hsa-miR-922	CLIP-seq
MIRT1379987	hsa-miR-1185	CLIP-seq
MIRT1379989	hsa-miR-1252	CLIP-seq
MIRT1379990	hsa-miR-1271	CLIP-seq
MIRT2336553	hsa-miR-129-5p	CLIP-seq
MIRT1379992	hsa-miR-130a	CLIP-seq
MIRT1379993	hsa-miR-130b	CLIP-seq
MIRT1379994	hsa-miR-148a	CLIP-seq
MIRT1379995	hsa-miR-148b	CLIP-seq
MIRT1379996	hsa-miR-152	CLIP-seq
MIRT1379997	hsa-miR-15a	CLIP-seq
MIRT1379998	hsa-miR-15b	CLIP-seq
MIRT1379999	hsa-miR-16	CLIP-seq
MIRT1380000	hsa-miR-182	CLIP-seq
MIRT1380001	hsa-miR-195	CLIP-seq
MIRT1380004	hsa-miR-19a	CLIP-seq
MIRT1380005	hsa-miR-19b	CLIP-seq
MIRT1380007	hsa-miR-208a	CLIP-seq
MIRT1380008	hsa-miR-208b	CLIP-seq
MIRT1380011	hsa-miR-214	CLIP-seq
MIRT1380013	hsa-miR-2467-3p	CLIP-seq
MIRT1380014	hsa-miR-301a	CLIP-seq
MIRT1380015	hsa-miR-301b	CLIP-seq
MIRT2113634	hsa-miR-3149	CLIP-seq
MIRT1380023	hsa-miR-3605-5p	CLIP-seq
MIRT1380024	hsa-miR-3617	CLIP-seq
MIRT1380025	hsa-miR-3619-5p	CLIP-seq
MIRT1380029	hsa-miR-3658	CLIP-seq
MIRT1380030	hsa-miR-3666	CLIP-seq
MIRT1380031	hsa-miR-3678-3p	CLIP-seq
MIRT1380032	hsa-miR-3679-5p	CLIP-seq
MIRT1380035	hsa-miR-424	CLIP-seq
MIRT1380036	hsa-miR-4291	CLIP-seq
MIRT1380037	hsa-miR-4295	CLIP-seq
MIRT1380039	hsa-miR-450b-5p	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT1380042	hsa-miR-454	CLIP-seq
MIRT1380043	hsa-miR-4661-3p	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT1380051	hsa-miR-497	CLIP-seq
MIRT1380052	hsa-miR-499-5p	CLIP-seq
MIRT1380053	hsa-miR-507	CLIP-seq
MIRT1380055	hsa-miR-511	CLIP-seq
MIRT1380059	hsa-miR-545	CLIP-seq
MIRT1380075	hsa-miR-557	CLIP-seq
MIRT1380078	hsa-miR-579	CLIP-seq
MIRT1380079	hsa-miR-582-5p	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT1380083	hsa-miR-641	CLIP-seq
MIRT1380084	hsa-miR-668	CLIP-seq
MIRT1380085	hsa-miR-761	CLIP-seq
MIRT1380087	hsa-miR-885-3p	CLIP-seq
MIRT1380088	hsa-miR-922	CLIP-seq
MIRT1380090	hsa-miR-96	CLIP-seq
MIRT1380041	hsa-miR-452	CLIP-seq
MIRT1380044	hsa-miR-4676-3p	CLIP-seq
MIRT2433367	hsa-miR-4744	CLIP-seq
MIRT2433368	hsa-miR-4760-3p	CLIP-seq
MIRT2433369	hsa-miR-548u	CLIP-seq
MIRT1380081	hsa-miR-587	CLIP-seq
MIRT2433370	hsa-miR-598	CLIP-seq
MIRT2433371	hsa-miR-664	CLIP-seq

Gene ontology (GO) Show/Hide all (16)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001782	Process	B cell homeostasis	IEA
GO:0002260	Process	Lymphocyte homeostasis	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005515	Function	Protein binding	IPI	7629138, 14679214, 17474147, 19380743, 20936779, 21706016, 21988832, 28514442, 31980649, 33961781
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0007265	Process	Ras protein signal transduction	IBA
GO:0008286	Process	Insulin receptor signaling pathway	IEA
GO:0033081	Process	Regulation of T cell differentiation in thymus	IEA
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0046982	Function	Protein heterodimerization activity	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 , 8T5G , 8T5M , 8T5R , 8UC9 , 8UF2 , 8UH0 , 9BVE , 9BVF , 9BVI , 9GIN
• Family and domains:

  Pfam

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

• 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

Pathways

KEGG Pathway	Reactome Pathway
EGFR tyrosine kinase inhibitor resistance	NRAGE signals death through JNK
Endocrine resistance	Rho GTPase cycle
MAPK signaling pathway	G alpha (12/13) signalling events
ErbB signaling pathway	Interleukin-15 signaling
Ras signaling pathway
Chemokine signaling pathway
FoxO signaling pathway
Phospholipase D signaling pathway
mTOR signaling pathway
PI3K-Akt signaling pathway
Focal adhesion
Gap junction
JAK-STAT signaling pathway
Natural killer cell mediated cytotoxicity
T cell receptor signaling pathway
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Thermogenesis
Neurotrophin signaling pathway
Regulation of actin cytoskeleton
Insulin signaling pathway
GnRH signaling pathway
Estrogen signaling pathway
Prolactin signaling pathway
Relaxin signaling pathway
Growth hormone synthesis, secretion and action
Alcoholism
Hepatitis C
Hepatitis B
Human cytomegalovirus infection
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
MicroRNAs in cancer
Chemical carcinogenesis - receptor activation
Chemical carcinogenesis - reactive oxygen species
Colorectal cancer
Renal cell carcinoma
Endometrial cancer
Glioma
Prostate cancer
Chronic myeloid leukemia
Acute myeloid leukemia
Non-small cell lung cancer
Breast cancer
Hepatocellular carcinoma
Gastric cancer
Choline metabolism in cancer

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal Show/Hide Causal Diseases (6)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Male infertility due to gonadal dysgenesis or sperm disorder	Likely pathogenic	rs2503347123	RCV003991600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome	Pathogenic; Likely pathogenic	rs869320687, rs797045167, rs1594982548, rs1595001710	RCV000845122 RCV001251214 RCV000845123 RCV000845124 RCV001251213	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome 1	Pathogenic	rs869320687	RCV003454490	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome 9	Pathogenic; Likely pathogenic	rs869320687, rs797045167, rs2502991901, rs1594982548, rs1595001710, rs1885777585	RCV000191030 RCV000191031 RCV002900123 RCV003755523 RCV001250768 RCV000699741 RCV003223414 RCV001250766 RCV001250767 RCV001250765	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RASopathy	Likely pathogenic; Pathogenic	rs797045167, rs1595001710	RCV004732469 RCV001264473 RCV001269182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SOS2-related disorder	Likely pathogenic; Pathogenic	rs797045167	RCV003411629	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (29)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
CARDIOVASCULAR DISEASE	—	GWAS catalog	30595370	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital heart disease	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MALFORMATION SYNDROMES ASSOCIATED WITH SHORT STATURE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	33462484, 39406924	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	33230300, 38965376, 39024449, 39789286	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY DUE TO TESTICULAR DYSGENESIS OR SPERM DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan syndrome and Noonan-related syndrome	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet, ClinGen	25795793,26173643,32788663, ClinGen report	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	37386247	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	38374256	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (57)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal dermatoglyphic pattern	Abnormal dermatoglyphic pattern	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic coarctation	Aortic Coarctation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardio-facio-cutaneous syndrome	Cardiofaciocutaneous syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★☆☆☆☆ Found in Text Mining only
Chronic Periodontitis	Periodontitis	Pubtator	24347629	Associate	★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31616474		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	32788663	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	32788663	Associate	★☆☆☆☆ Found in Text Mining only
Heart Septal Defects	Heart Septal Defects	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	23761422	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops fetalis	Pubtator	36959127	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis pilaris	Hyperkeratosis Pilaris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Lymphangioma, Cystic	Cystic hygroma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15138850		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30536836		★☆☆☆☆ Found in Text Mining only
Noonan Syndrome	Noonan Syndrome	CLINGEN_DG	10938118, 23875798, 25795793, 26173643		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan Syndrome	GENOMICS_ENGLAND_DG	10938118		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan Syndrome	ORPHANET_DG	25795793		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan Syndrome	BEFREE	25795793, 26173643		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan syndrome	Noonan Syndrome	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome	Noonan syndrome	Pubtator	32788663, 34136918	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Noonan Syndrome 1	Noonan Syndrome	CLINVAR_DG	26173643		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
NOONAN SYNDROME 9	Noonan Syndrome	UNIPROT_DG	25795793		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NOONAN SYNDROME 9	Noonan Syndrome	GENOMICS_ENGLAND_DG	25795793, 26173643		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NOONAN SYNDROME 9	Noonan Syndrome	CLINVAR_DG	25795793, 26173643		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NOONAN SYNDROME 9	Noonan Syndrome	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Noonan syndrome-like disorder with loose anagen hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Noonan-Like Syndrome With Loose Anagen Hair	Noonan-Like Syndrome With Loose Anagen Hair	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	29844066		★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	BEFREE	23761422		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16681758		★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	23761422		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	23761422	Associate	★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

RIT1 2 shared diseasesCongenital malformation syndromes associated with short stature, Noonan syndrome 7 shared evidence sourcesDisgenet (Congenital malformation syndromes associated with short stature), ClinGen (Noonan syndrome), Disgenet (Noonan syndrome), CTD (Noonan syndrome), Orphanet (Noonan syndrome), ClinVar (Noonan syndrome), HPO (Noonan syndrome) Related via 2 shared diseases including Congenital malformation syndromes associated with short stature, Noonan syndrome — evidence mostly Disgenet. SOS1 1 shared diseaseNoonan syndrome 48 shared pathwaysEGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Chemokine signaling pathway, FoxO signaling pathway, Phospholipase D signaling pathway, mTOR signaling pathway, Focal adhesion, Gap junction, JAK-STAT signaling pathway +36 more 6 shared evidence sourcesClinGen (Noonan syndrome), Disgenet (Noonan syndrome), CTD (Noonan syndrome), Orphanet (Noonan syndrome), ClinVar (Noonan syndrome), HPO (Noonan syndrome) Related via 48 shared pathways including EGFR tyrosine kinase inhibitor resistance, Endocrine resistance — evidence mostly ClinGen. RRAS2 1 shared diseaseNoonan syndrome 5 shared pathwaysMAPK signaling pathway, Ras signaling pathway, Phospholipase D signaling pathway, Regulation of actin cytoskeleton, Proteoglycans in cancer 5 shared evidence sourcesClinGen (Noonan syndrome), Disgenet (Noonan syndrome), Orphanet (Noonan syndrome), ClinVar (Noonan syndrome), HPO (Noonan syndrome) Related via 5 shared pathways including MAPK signaling pathway, Ras signaling pathway — evidence mostly ClinGen. RAF1 1 shared diseaseNoonan syndrome 43 shared pathwaysEGFR tyrosine kinase inhibitor resistance, Endocrine resistance, MAPK signaling pathway, ErbB signaling pathway, Ras signaling pathway, Chemokine signaling pathway, FoxO signaling pathway, Phospholipase D signaling pathway, mTOR signaling pathway, Focal adhesion, Gap junction, JAK-STAT signaling pathway +31 more 6 shared evidence sourcesClinGen (Noonan syndrome), Disgenet (Noonan syndrome), CTD (Noonan syndrome), Orphanet (Noonan syndrome), ClinVar (Noonan syndrome), HPO (Noonan syndrome) Related via 43 shared pathways including EGFR tyrosine kinase inhibitor resistance, Endocrine resistance — evidence mostly ClinGen. PPP1CB 1 shared diseaseNoonan syndrome 5 shared pathwaysFocal adhesion, Regulation of actin cytoskeleton, Insulin signaling pathway, Alcoholism, Proteoglycans in cancer 5 shared evidence sourcesClinGen (Noonan syndrome), Disgenet (Noonan syndrome), Orphanet (Noonan syndrome), ClinVar (Noonan syndrome), HPO (Noonan syndrome) Related via 5 shared pathways including Focal adhesion, Regulation of actin cytoskeleton — evidence mostly ClinGen.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
RIT1	2	["Congenital malformation syndromes associated with short stature","Noonan syndrome"]	0	[]	7	["Disgenet (Congenital malformation syndromes associated with short stature)","ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)","CTD (Noonan syndrome)","Orphanet (Noonan syndrome)","ClinVar (Noonan syndrome)","HPO (Noonan syndrome)"]
SOS1	1	["Noonan syndrome"]	48	["EGFR tyrosine kinase inhibitor resistance","Endocrine resistance","MAPK signaling pathway","ErbB signaling pathway","Ras signaling pathway","Chemokine signaling pathway","FoxO signaling pathway","Phospholipase D signaling pathway","mTOR signaling pathway","Focal adhesion","Gap junction","JAK-STAT signaling pathway"]	6	["ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)","CTD (Noonan syndrome)","Orphanet (Noonan syndrome)","ClinVar (Noonan syndrome)","HPO (Noonan syndrome)"]
RRAS2	1	["Noonan syndrome"]	5	["MAPK signaling pathway","Ras signaling pathway","Phospholipase D signaling pathway","Regulation of actin cytoskeleton","Proteoglycans in cancer"]	5	["ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)","Orphanet (Noonan syndrome)","ClinVar (Noonan syndrome)","HPO (Noonan syndrome)"]
RAF1	1	["Noonan syndrome"]	43	["EGFR tyrosine kinase inhibitor resistance","Endocrine resistance","MAPK signaling pathway","ErbB signaling pathway","Ras signaling pathway","Chemokine signaling pathway","FoxO signaling pathway","Phospholipase D signaling pathway","mTOR signaling pathway","Focal adhesion","Gap junction","JAK-STAT signaling pathway"]	6	["ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)","CTD (Noonan syndrome)","Orphanet (Noonan syndrome)","ClinVar (Noonan syndrome)","HPO (Noonan syndrome)"]
PPP1CB	1	["Noonan syndrome"]	5	["Focal adhesion","Regulation of actin cytoskeleton","Insulin signaling pathway","Alcoholism","Proteoglycans in cancer"]	5	["ClinGen (Noonan syndrome)","Disgenet (Noonan syndrome)","Orphanet (Noonan syndrome)","ClinVar (Noonan syndrome)","HPO (Noonan syndrome)"]

Diseases Linked via Similar Genes

Cardiofaciocutaneous syndrome Linked via 3 of 5 related genesRIT1, SOS1, RAF1 Dilated cardiomyopathy Linked via 2 of 5 related genesSOS1, RAF1 Costello syndrome Linked via 2 of 5 related genesSOS1, RAF1 Tetralogy of fallot Linked via 2 of 5 related genesSOS1, RAF1 Hypertrophic cardiomyopathy Linked via 2 of 5 related genesRRAS2, RAF1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Cardiofaciocutaneous syndrome	3	["RIT1","SOS1","RAF1"]
Dilated cardiomyopathy	2	["SOS1","RAF1"]
Costello syndrome	2	["SOS1","RAF1"]
Tetralogy of fallot	2	["SOS1","RAF1"]
Hypertrophic cardiomyopathy	2	["RRAS2","RAF1"]