Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
6655
Gene name Gene Name - the full gene name approved by the HGNC.
SOS Ras/Rho guanine nucleotide exchange factor 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SOS2
Synonyms (NCBI Gene) Gene synonyms aliases
NS9, SOS-2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
NS9
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q21.3
Summary Summary of gene provided in NCBI Entrez 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]
SNPs SNP information provided by dbSNP.
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 miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601247 11188 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
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
KVDYHVSLYIVAVLEYISADILKLAGNYVFNIRHYEISQQDIKVSMCAD
KVLMDMFDQDD
IGLVSLCEDEPSSSGELNYYDLVRTEIAEERQYLRELNMIIKVFREAFLSDRKLFKPSDI
EKIFSNISDIHELTVKLLGLIEDTVEMTDESSPHPLAGSCFEDLAEEQAFDPYETLSQDI
LSPEFHEHFNKLMARPAVALHFQSIADGFKEAVRYVLPRLMLVPVYHCWHYFELLKQLKA
CSEEQEDRECLNQAITALMNLQGSMD
RIYKQYSPRRRPGDPVCPFYSHQLRSKHLAIKKM
NEIQKNIDGWEGKDIGQCCNEFIMEGPLTRIGAKHERHIFLFDGLMISCKPNHGQTRLPG
YSSAEYRLKEKFVMRKIQICDKEDTCEHKHAFELVSKDENSIIFAAKSAEEKNNWMAALI
SLHY
RSTLDRMLDSVLLKEENEQPLRLPSPEVYRFVVKDSEENIVFEDNLQSRSGIPIIK
GGTVVKLIERLTYHMYADPNFVRTFLTTYRSFCKPQELLSLLIERFEIPEPEPTDADKLA
IEKGEQPISADLKRFRKEYVQPVQLRILNVFRHWVEHHFYDFERDLELLERLESF
ISSVR
GKAMKKWVESIAKIIRRKKQAQANGVSHNITFESPPPPIEWHISKPGQFETFDLMTLHPI
EIARQLTLLESDLYRKVQPSELVGSVWTKEDKEINSPNLLKMIRHTTNLTLWFEKCIVEA
ENFEERVAVLSRIIEILQVFQDLNNFNGVLEIVSAVNSVSVYRLDHTFEALQERKRKILD
EAVELSQDHFKKYLVKLKSINPPCVPFFGIYLTNILKTEEGNNDFLKKKGKDLINFSKRR

KVAEITGEIQQYQNQPYCLRIEPDMRRFFENLNPMGSASEKEFTDYLFNKSLEIEPRNCK
QPPRFPRKSTFSLKSPGIRPNTGRHGSTSGTLRGHPTPLEREPCKISFSRIAETELESTV
SAPTSPNTPSTPPVSASSDLSVFLDVDLNSSCGSNSIFAPVLLPHSKSFFSSCGSLHKLS
EEPLIPPPLPPRKKFDHDASNSKGNMKSDDDPPAIPPRQPPPPKVKPRVPVPTGAFDGPL
HSPPPPPPRDPLPDTPPPVPLRPPEHFINCPFNLQPPPLGHLHRDSDWLRDISTCPNSPS
TPPSTPSPRVPRRCYVLSSSQNNLAHPPAPPVPPRQNSSPHLPKLPPKTYKRELSHPPLY
RLPLLENAETPQ
Sequence length 1332
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Noonan Syndrome Noonan syndrome GenCC
Gout Gout GWAS
Hypertension Hypertension GWAS
Diabetes Diabetes GWAS
Associations from Text Mining
Disease Name Relationship Type References
Chronic Periodontitis Associate 24347629
Heart Defects Congenital Associate 32788663
Heart Diseases Associate 32788663
Hemochromatosis Associate 23761422
Hydrops Fetalis Associate 36959127
Laron Syndrome Associate 34136918
Leukemia Lymphoma Adult T Cell Associate 37832654
Lymphatic Abnormalities Associate 32788663, 35979676
Lymphatic Diseases Associate 32788663
Noonan Syndrome Associate 32788663, 34136918