Human Gene SOS2 (ENST00000216373.10_7) from GENCODE V47lift37
  Description: SOS Ras/Rho guanine nucleotide exchange factor 2 (from RefSeq NM_006939.4)
Gencode Transcript: ENST00000216373.10_7
Gencode Gene: ENSG00000100485.12_10
Transcript (Including UTRs)
   Position: hg19 chr14:50,583,848-50,698,296 Size: 114,449 Total Exon Count: 23 Strand: -
Coding Region
   Position: hg19 chr14:50,585,062-50,698,001 Size: 112,940 Coding Exon Count: 23 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr14:50,583,848-50,698,296)mRNA (may differ from genome)Protein (1332 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SOS2_HUMAN
DESCRIPTION: RecName: Full=Son of sevenless homolog 2; Short=SOS-2;
FUNCTION: Promotes the exchange of Ras-bound GDP by GTP (By similarity).
INTERACTION: P00519:ABL1; NbExp=2; IntAct=EBI-298181, EBI-375543; P46108:CRK; NbExp=2; IntAct=EBI-298181, EBI-886; P62993:GRB2; NbExp=6; IntAct=EBI-298181, EBI-401755; P16333:NCK1; NbExp=3; IntAct=EBI-298181, EBI-389883; Q9UKS6:PACSIN3; NbExp=2; IntAct=EBI-298181, EBI-77926; P19174:PLCG1; NbExp=4; IntAct=EBI-298181, EBI-79387; Q9Y5X1:SNX9; NbExp=2; IntAct=EBI-298181, EBI-77848;
SIMILARITY: Contains 1 DH (DBL-homology) domain.
SIMILARITY: Contains 1 N-terminal Ras-GEF domain.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 Ras-GEF domain.
WEB RESOURCE: Name=Wikipedia; Note=Son of sevenless entry; URL="http://en.wikipedia.org/wiki/Son_of_Sevenless";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SOS2
Diseases sorted by gene-association score: noonan syndrome 9* (1240), sos2-related noonan syndrome* (500), noonan syndrome 1* (129)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 10.81 RPKM in Testis
Total median expression: 357.84 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -206.60295-0.700 Picture PostScript Text
3' UTR -269.101214-0.222 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000219 - DH-domain
IPR009072 - Histone-fold
IPR007125 - Histone_core_D
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR000651 - Ras-like_Gua-exchang_fac_N
IPR019804 - Ras_G-nucl-exch_fac_CS
IPR008937 - Ras_GEF
IPR023578 - Ras_GEF_dom
IPR001895 - RasGRF_CDC25
IPR015759 - Sos

Pfam Domains:
PF00125 - Core histone H2A/H2B/H3/H4
PF00169 - PH domain
PF00617 - RasGEF domain
PF00618 - RasGEF N-terminal motif
PF00621 - RhoGEF domain

SCOP Domains:
48366 - Ras GEF
47113 - Histone-fold
101116 - Flagellar export chaperone FliS
48065 - DBL homology domain (DH-domain)
50729 - PH domain-like
58038 - SNARE fusion complex

ModBase Predicted Comparative 3D Structure on Q07890
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003677 DNA binding
GO:0005085 guanyl-nucleotide exchange factor activity
GO:0005089 Rho guanyl-nucleotide exchange factor activity
GO:0005515 protein binding
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007264 small GTPase mediated signal transduction
GO:0035023 regulation of Rho protein signal transduction
GO:0043065 positive regulation of apoptotic process
GO:0051056 regulation of small GTPase mediated signal transduction
GO:0051057 positive regulation of small GTPase mediated signal transduction

Cellular Component:
GO:0000786 nucleosome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  AK295868 - Homo sapiens cDNA FLJ53793 complete cds, highly similar to Son of sevenless homolog 2.
BC117261 - Homo sapiens son of sevenless homolog 2 (Drosophila), mRNA (cDNA clone MGC:150870 IMAGE:40125812), complete cds.
BC143367 - Homo sapiens son of sevenless homolog 2 (Drosophila), mRNA (cDNA clone MGC:176889 IMAGE:9051872), complete cds.
BC143366 - Homo sapiens son of sevenless homolog 2 (Drosophila), mRNA (cDNA clone MGC:176888 IMAGE:9051871), complete cds.
L13858 - Human guanine nucleotide exchange factor mRNA, complete cds.
HQ258542 - Synthetic construct Homo sapiens clone IMAGE:100072971 son of sevenless homolog 2 (Drosophila) (SOS2) gene, encodes complete protein.
KJ892184 - Synthetic construct Homo sapiens clone ccsbBroadEn_01578 SOS2 gene, encodes complete protein.
AB463275 - Synthetic construct DNA, clone: pF1KB7273, Homo sapiens SOS2 gene for son of sevenless homolog 2, without stop codon, in Flexi system.
L20686 - Homo sapiens guanine nucleotide releasing factor (SOS2) mRNA, complete cds.
AB209277 - Homo sapiens mRNA for son of sevenless homolog 2 variant protein.
AK129920 - Homo sapiens cDNA FLJ26410 fis, clone HRT09622.
JD553669 - Sequence 534693 from Patent EP1572962.
JD562954 - Sequence 543978 from Patent EP1572962.
JD147058 - Sequence 128082 from Patent EP1572962.
JD313353 - Sequence 294377 from Patent EP1572962.
JD538940 - Sequence 519964 from Patent EP1572962.
JD235394 - Sequence 216418 from Patent EP1572962.
JD237788 - Sequence 218812 from Patent EP1572962.
JD488704 - Sequence 469728 from Patent EP1572962.
JD548621 - Sequence 529645 from Patent EP1572962.
AK302825 - Homo sapiens cDNA FLJ56976 complete cds, highly similar to Son of sevenless homolog 2.
AK309123 - Homo sapiens cDNA, FLJ99164.
JD263396 - Sequence 244420 from Patent EP1572962.
AK098462 - Homo sapiens cDNA FLJ25596 fis, clone JTH13419.
AK308978 - Homo sapiens cDNA, FLJ99019.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q07890 (Reactome details) participates in the following event(s):

R-HSA-428515 Recruitment of SOS to plasma membrane
R-HSA-194913 GEFs activate Rho GTPase:GDP
R-HSA-419166 GEFs activate RhoA,B,C
R-HSA-205039 p75NTR indirectly activates RAC and Cdc42 via a guanyl-nucleotide exchange factor
R-HSA-428535 Activation of RAC1 by SOS
R-HSA-428540 Activation of RAC1
R-HSA-8983432 Interleukin-15 signaling
R-HSA-376176 Signaling by ROBO receptors
R-HSA-194840 Rho GTPase cycle
R-HSA-416482 G alpha (12/13) signalling events
R-HSA-193648 NRAGE signals death through JNK
R-HSA-451927 Interleukin-2 family signaling
R-HSA-422475 Axon guidance
R-HSA-194315 Signaling by Rho GTPases
R-HSA-388396 GPCR downstream signalling
R-HSA-204998 Cell death signalling via NRAGE, NRIF and NADE
R-HSA-449147 Signaling by Interleukins
R-HSA-1266738 Developmental Biology
R-HSA-162582 Signal Transduction
R-HSA-372790 Signaling by GPCR
R-HSA-193704 p75 NTR receptor-mediated signalling
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-73887 Death Receptor Signalling
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: B7ZKT6, D3DSB4, ENST00000216373.1, ENST00000216373.2, ENST00000216373.3, ENST00000216373.4, ENST00000216373.5, ENST00000216373.6, ENST00000216373.7, ENST00000216373.8, ENST00000216373.9, NM_006939, Q07890, Q15503, Q17RN1, SOS2_HUMAN, uc317cqj.1, uc317cqj.2
UCSC ID: ENST00000216373.10_7
RefSeq Accession: NM_006939.4
Protein: Q07890 (aka SOS2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene SOS2:
noonan (Noonan Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.