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Protein

Son of sevenless homolog 2

Gene

SOS2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Promotes the exchange of Ras-bound GDP by GTP.By similarity

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Guanine-nucleotide releasing factor

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100485-MONOMER.
ReactomeiR-HSA-193648. NRAGE signals death through JNK.
R-HSA-194840. Rho GTPase cycle.
R-HSA-416482. G alpha (12/13) signalling events.
R-HSA-428540. Activation of Rac.
SIGNORiQ07890.

Names & Taxonomyi

Protein namesi
Recommended name:
Son of sevenless homolog 2
Short name:
SOS-2
Gene namesi
Name:SOS2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 14

Organism-specific databases

HGNCiHGNC:11188. SOS2.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Noonan syndrome 9 (NS9)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells.
See also OMIM:616559
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075686267M → K in NS9. 1 Publication1
Natural variantiVAR_075687310N → K in NS9; unknown pathological significance. 1 Publication1
Natural variantiVAR_075688334R → H in NS9; unknown pathological significance. 1 PublicationCorresponds to variant rs373233749dbSNPEnsembl.1
Natural variantiVAR_075689376T → S in NS9. 1 Publication1
Natural variantiVAR_0756921092P → L in NS9; unknown pathological significance. 1 Publication1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6655.
MIMi616559. phenotype.
OpenTargetsiENSG00000100485.
PharmGKBiPA36025.

Polymorphism and mutation databases

BioMutaiSOS2.
DMDMi223634694.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000688961 – 1332Son of sevenless homolog 2Add BLAST1332

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1321Asymmetric dimethylarginineBy similarity1

Keywords - PTMi

Methylation

Proteomic databases

EPDiQ07890.
MaxQBiQ07890.
PaxDbiQ07890.
PeptideAtlasiQ07890.
PRIDEiQ07890.

PTM databases

iPTMnetiQ07890.
PhosphoSitePlusiQ07890.

Expressioni

Gene expression databases

BgeeiENSG00000100485.
CleanExiHS_SOS2.
ExpressionAtlasiQ07890. baseline and differential.
GenevisibleiQ07890. HS.

Organism-specific databases

HPAiCAB004577.
HPA047368.
HPA052689.

Interactioni

Binary interactionsi

WithEntry#Exp.IntActNotes
ABL1P005192EBI-298181,EBI-375543
CRKP461082EBI-298181,EBI-886
GRB2P629938EBI-298181,EBI-401755
NCK1P163333EBI-298181,EBI-389883
PACSIN3Q9UKS62EBI-298181,EBI-77926
PLCG1P191744EBI-298181,EBI-79387
SNX9Q9Y5X12EBI-298181,EBI-77848

Protein-protein interaction databases

BioGridi112538. 12 interactors.
IntActiQ07890. 17 interactors.
MINTiMINT-1782446.
STRINGi9606.ENSP00000216373.

Structurei

3D structure databases

ProteinModelPortaliQ07890.
SMRiQ07890.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini198 – 388DHPROSITE-ProRule annotationAdd BLAST191
Domaini442 – 546PHPROSITE-ProRule annotationAdd BLAST105
Domaini595 – 739N-terminal Ras-GEFPROSITE-ProRule annotationAdd BLAST145
Domaini778 – 1017Ras-GEFPROSITE-ProRule annotationAdd BLAST240

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi755 – 758Poly-Pro4
Compositional biasi1180 – 1183Poly-Pro4
Compositional biasi1203 – 1208Poly-Pro6

Sequence similaritiesi

Contains 1 DH (DBL-homology) domain.PROSITE-ProRule annotation
Contains 1 N-terminal Ras-GEF domain.PROSITE-ProRule annotation
Contains 1 PH domain.PROSITE-ProRule annotation
Contains 1 Ras-GEF domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3417. Eukaryota.
ENOG410XR96. LUCA.
GeneTreeiENSGT00860000133664.
HOGENOMiHOG000013040.
HOVERGENiHBG017831.
InParanoidiQ07890.
KOiK03099.
OMAiKFNEHFS.
OrthoDBiEOG091G04UL.
PhylomeDBiQ07890.
TreeFamiTF317296.

Family and domain databases

CDDicd00155. RasGEF. 1 hit.
cd06224. REM. 1 hit.
Gene3Di1.10.20.10. 1 hit.
1.10.840.10. 1 hit.
1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR009072. Histone-fold.
IPR007125. Histone_H2A/H2B/H3.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR000651. Ras-like_Gua-exchang_fac_N.
IPR019804. Ras_G-nucl-exch_fac_CS.
IPR023578. Ras_GEF_dom.
IPR001895. RASGEF_cat_dom.
[Graphical view]
PfamiPF00125. Histone. 1 hit.
PF00169. PH. 1 hit.
PF00617. RasGEF. 1 hit.
PF00618. RasGEF_N. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00147. RasGEF. 1 hit.
SM00229. RasGEFN. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF47113. SSF47113. 1 hit.
SSF48065. SSF48065. 1 hit.
SSF48366. SSF48366. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS00720. RASGEF. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
PS50212. RASGEF_NTER. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q07890-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MQQAPQPYEF FSEENSPKWR GLLVSALRKV QEQVHPTLSA NEESLYYIEE
60 70 80 90 100
LIFQLLNKLC MAQPRTVQDV EERVQKTFPH PIDKWAIADA QSAIEKRKRR
110 120 130 140 150
NPLLLPVDKI HPSLKEVLGY KVDYHVSLYI VAVLEYISAD ILKLAGNYVF
160 170 180 190 200
NIRHYEISQQ DIKVSMCADK VLMDMFDQDD IGLVSLCEDE PSSSGELNYY
210 220 230 240 250
DLVRTEIAEE RQYLRELNMI IKVFREAFLS DRKLFKPSDI EKIFSNISDI
260 270 280 290 300
HELTVKLLGL IEDTVEMTDE SSPHPLAGSC FEDLAEEQAF DPYETLSQDI
310 320 330 340 350
LSPEFHEHFN KLMARPAVAL HFQSIADGFK EAVRYVLPRL MLVPVYHCWH
360 370 380 390 400
YFELLKQLKA CSEEQEDREC LNQAITALMN LQGSMDRIYK QYSPRRRPGD
410 420 430 440 450
PVCPFYSHQL RSKHLAIKKM NEIQKNIDGW EGKDIGQCCN EFIMEGPLTR
460 470 480 490 500
IGAKHERHIF LFDGLMISCK PNHGQTRLPG YSSAEYRLKE KFVMRKIQIC
510 520 530 540 550
DKEDTCEHKH AFELVSKDEN SIIFAAKSAE EKNNWMAALI SLHYRSTLDR
560 570 580 590 600
MLDSVLLKEE NEQPLRLPSP EVYRFVVKDS EENIVFEDNL QSRSGIPIIK
610 620 630 640 650
GGTVVKLIER LTYHMYADPN FVRTFLTTYR SFCKPQELLS LLIERFEIPE
660 670 680 690 700
PEPTDADKLA IEKGEQPISA DLKRFRKEYV QPVQLRILNV FRHWVEHHFY
710 720 730 740 750
DFERDLELLE RLESFISSVR GKAMKKWVES IAKIIRRKKQ AQANGVSHNI
760 770 780 790 800
TFESPPPPIE WHISKPGQFE TFDLMTLHPI EIARQLTLLE SDLYRKVQPS
810 820 830 840 850
ELVGSVWTKE DKEINSPNLL KMIRHTTNLT LWFEKCIVEA ENFEERVAVL
860 870 880 890 900
SRIIEILQVF QDLNNFNGVL EIVSAVNSVS VYRLDHTFEA LQERKRKILD
910 920 930 940 950
EAVELSQDHF KKYLVKLKSI NPPCVPFFGI YLTNILKTEE GNNDFLKKKG
960 970 980 990 1000
KDLINFSKRR KVAEITGEIQ QYQNQPYCLR IEPDMRRFFE NLNPMGSASE
1010 1020 1030 1040 1050
KEFTDYLFNK SLEIEPRNCK QPPRFPRKST FSLKSPGIRP NTGRHGSTSG
1060 1070 1080 1090 1100
TLRGHPTPLE REPCKISFSR IAETELESTV SAPTSPNTPS TPPVSASSDL
1110 1120 1130 1140 1150
SVFLDVDLNS SCGSNSIFAP VLLPHSKSFF SSCGSLHKLS EEPLIPPPLP
1160 1170 1180 1190 1200
PRKKFDHDAS NSKGNMKSDD DPPAIPPRQP PPPKVKPRVP VPTGAFDGPL
1210 1220 1230 1240 1250
HSPPPPPPRD PLPDTPPPVP LRPPEHFINC PFNLQPPPLG HLHRDSDWLR
1260 1270 1280 1290 1300
DISTCPNSPS TPPSTPSPRV PRRCYVLSSS QNNLAHPPAP PVPPRQNSSP
1310 1320 1330
HLPKLPPKTY KRELSHPPLY RLPLLENAET PQ
Length:1,332
Mass (Da):152,979
Last modified:February 10, 2009 - v2
Checksum:i0D1D4FAB8E37C371
GO
Isoform 2 (identifier: Q07890-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     324-356: Missing.

Note: No experimental confirmation available.
Show »
Length:1,299
Mass (Da):149,002
Checksum:iCDA5F7026EC96928
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti32E → V in AAA35914 (PubMed:8493579).Curated1
Sequence conflicti192S → C in AAA35914 (PubMed:8493579).Curated1
Sequence conflicti239 – 240DI → VY in AAA35914 (PubMed:8493579).Curated2
Sequence conflicti381L → H in AAA35914 (PubMed:8493579).Curated1
Sequence conflicti482S → T in AAA35914 (PubMed:8493579).Curated1
Sequence conflicti687I → V in AAA35914 (PubMed:8493579).Curated1
Sequence conflicti696E → D in AAA35914 (PubMed:8493579).Curated1
Sequence conflicti699F → Y in AAA35914 (PubMed:8493579).Curated1
Sequence conflicti778H → D in AAA35914 (PubMed:8493579).Curated1
Sequence conflicti861Q → R in AAA91852 (Ref. 5) Curated1
Sequence conflicti948K → R in AAA35914 (PubMed:8493579).Curated1
Sequence conflicti999S → C in AAA91852 (Ref. 5) Curated1
Sequence conflicti1032S → E in AAA91852 (Ref. 5) Curated1
Sequence conflicti1042T → A in AAA91852 (Ref. 5) Curated1
Sequence conflicti1112 – 1114CGS → LC in AAA91852 (Ref. 5) Curated3
Sequence conflicti1159A → G in AAA91852 (Ref. 5) Curated1
Sequence conflicti1296Q → E in AAA91852 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075686267M → K in NS9. 1 Publication1
Natural variantiVAR_075687310N → K in NS9; unknown pathological significance. 1 Publication1
Natural variantiVAR_075688334R → H in NS9; unknown pathological significance. 1 PublicationCorresponds to variant rs373233749dbSNPEnsembl.1
Natural variantiVAR_075689376T → S in NS9. 1 Publication1
Natural variantiVAR_075690449T → A.1 PublicationCorresponds to variant rs768547025dbSNPEnsembl.1
Natural variantiVAR_054327483S → N.Corresponds to variant rs17122201dbSNPEnsembl.1
Natural variantiVAR_054328508H → Y.Corresponds to variant rs8010237dbSNPEnsembl.1
Natural variantiVAR_034441672L → I.Corresponds to variant rs34139502dbSNPEnsembl.1
Natural variantiVAR_075691952D → N.1 PublicationCorresponds to variant rs200387871dbSNPEnsembl.1
Natural variantiVAR_0756921092P → L in NS9; unknown pathological significance. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_054492324 – 356Missing in isoform 2. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L13858 mRNA. Translation: AAA35914.1.
AL109758 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65727.1.
CH471078 Genomic DNA. Translation: EAW65728.1.
BC143367 mRNA. Translation: AAI43368.1.
BC117261 mRNA. Translation: AAI17262.1.
L20686 mRNA. Translation: AAA91852.1.
CCDSiCCDS9697.1. [Q07890-1]
RefSeqiNP_008870.2. NM_006939.3. [Q07890-1]
UniGeneiHs.291533.

Genome annotation databases

EnsembliENST00000216373; ENSP00000216373; ENSG00000100485. [Q07890-1]
ENST00000543680; ENSP00000445328; ENSG00000100485. [Q07890-2]
GeneIDi6655.
KEGGihsa:6655.
UCSCiuc001wxs.5. human. [Q07890-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Wikipedia

Son of sevenless entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L13858 mRNA. Translation: AAA35914.1.
AL109758 Genomic DNA. No translation available.
CH471078 Genomic DNA. Translation: EAW65727.1.
CH471078 Genomic DNA. Translation: EAW65728.1.
BC143367 mRNA. Translation: AAI43368.1.
BC117261 mRNA. Translation: AAI17262.1.
L20686 mRNA. Translation: AAA91852.1.
CCDSiCCDS9697.1. [Q07890-1]
RefSeqiNP_008870.2. NM_006939.3. [Q07890-1]
UniGeneiHs.291533.

3D structure databases

ProteinModelPortaliQ07890.
SMRiQ07890.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112538. 12 interactors.
IntActiQ07890. 17 interactors.
MINTiMINT-1782446.
STRINGi9606.ENSP00000216373.

PTM databases

iPTMnetiQ07890.
PhosphoSitePlusiQ07890.

Polymorphism and mutation databases

BioMutaiSOS2.
DMDMi223634694.

Proteomic databases

EPDiQ07890.
MaxQBiQ07890.
PaxDbiQ07890.
PeptideAtlasiQ07890.
PRIDEiQ07890.

Protocols and materials databases

DNASUi6655.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000216373; ENSP00000216373; ENSG00000100485. [Q07890-1]
ENST00000543680; ENSP00000445328; ENSG00000100485. [Q07890-2]
GeneIDi6655.
KEGGihsa:6655.
UCSCiuc001wxs.5. human. [Q07890-1]

Organism-specific databases

CTDi6655.
DisGeNETi6655.
GeneCardsiSOS2.
H-InvDBHIX0037776.
HGNCiHGNC:11188. SOS2.
HPAiCAB004577.
HPA047368.
HPA052689.
MIMi601247. gene.
616559. phenotype.
neXtProtiNX_Q07890.
OpenTargetsiENSG00000100485.
PharmGKBiPA36025.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3417. Eukaryota.
ENOG410XR96. LUCA.
GeneTreeiENSGT00860000133664.
HOGENOMiHOG000013040.
HOVERGENiHBG017831.
InParanoidiQ07890.
KOiK03099.
OMAiKFNEHFS.
OrthoDBiEOG091G04UL.
PhylomeDBiQ07890.
TreeFamiTF317296.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000100485-MONOMER.
ReactomeiR-HSA-193648. NRAGE signals death through JNK.
R-HSA-194840. Rho GTPase cycle.
R-HSA-416482. G alpha (12/13) signalling events.
R-HSA-428540. Activation of Rac.
SIGNORiQ07890.

Miscellaneous databases

ChiTaRSiSOS2. human.
GenomeRNAii6655.
PROiQ07890.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000100485.
CleanExiHS_SOS2.
ExpressionAtlasiQ07890. baseline and differential.
GenevisibleiQ07890. HS.

Family and domain databases

CDDicd00155. RasGEF. 1 hit.
cd06224. REM. 1 hit.
Gene3Di1.10.20.10. 1 hit.
1.10.840.10. 1 hit.
1.20.900.10. 1 hit.
2.30.29.30. 1 hit.
InterProiIPR000219. DH-domain.
IPR009072. Histone-fold.
IPR007125. Histone_H2A/H2B/H3.
IPR011993. PH_dom-like.
IPR001849. PH_domain.
IPR000651. Ras-like_Gua-exchang_fac_N.
IPR019804. Ras_G-nucl-exch_fac_CS.
IPR023578. Ras_GEF_dom.
IPR001895. RASGEF_cat_dom.
[Graphical view]
PfamiPF00125. Histone. 1 hit.
PF00169. PH. 1 hit.
PF00617. RasGEF. 1 hit.
PF00618. RasGEF_N. 1 hit.
PF00621. RhoGEF. 1 hit.
[Graphical view]
SMARTiSM00233. PH. 1 hit.
SM00147. RasGEF. 1 hit.
SM00229. RasGEFN. 1 hit.
SM00325. RhoGEF. 1 hit.
[Graphical view]
SUPFAMiSSF47113. SSF47113. 1 hit.
SSF48065. SSF48065. 1 hit.
SSF48366. SSF48366. 1 hit.
SSF50729. SSF50729. 1 hit.
PROSITEiPS50010. DH_2. 1 hit.
PS50003. PH_DOMAIN. 1 hit.
PS00720. RASGEF. 1 hit.
PS50009. RASGEF_CAT. 1 hit.
PS50212. RASGEF_NTER. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiSOS2_HUMAN
AccessioniPrimary (citable) accession number: Q07890
Secondary accession number(s): B7ZKT6
, D3DSB4, Q15503, Q17RN1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 10, 2009
Last modified: November 30, 2016
This is version 154 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.