GenomeNet

Database: UniProt
Entry: Q07890
LinkDB: Q07890
Original site: Q07890 
ID   SOS2_HUMAN              Reviewed;        1332 AA.
AC   Q07890; B7ZKT6; D3DSB4; Q15503; Q17RN1;
DT   15-JUL-1999, integrated into UniProtKB/Swiss-Prot.
DT   10-FEB-2009, sequence version 2.
DT   07-SEP-2016, entry version 151.
DE   RecName: Full=Son of sevenless homolog 2;
DE            Short=SOS-2;
GN   Name=SOS2;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RC   TISSUE=Brain;
RX   PubMed=8493579; DOI=10.1126/science.8493579;
RA   Chardin P., Camonis J.H., Gale N.W., van Aelst L., Wigler M.H.,
RA   Bar-Sagi D.;
RT   "Human Sos1: a guanine nucleotide exchange factor for Ras that binds
RT   to GRB2.";
RL   Science 260:1338-1343(1993).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=12508121; DOI=10.1038/nature01348;
RA   Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA   Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA   Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S.,
RA   Sun H., Du H., Pepin K., Artiguenave F., Robert C., Cruaud C.,
RA   Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P.,
RA   Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N.,
RA   Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C.,
RA   Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S.,
RA   Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B.,
RA   Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M.,
RA   Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S.,
RA   Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D.,
RA   Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A.,
RA   Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA   Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA   Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L.,
RA   Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J.,
RA   Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W.,
RA   Quetier F., Waterston R., Hood L., Weissenbach J.;
RT   "The DNA sequence and analysis of human chromosome 14.";
RL   Nature 421:601-607(2003).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA   Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA   Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA   Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA   Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA   Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA   Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA   Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Brain;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA
RT   project: the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [MRNA] OF 724-1296 (ISOFORM 1/2).
RC   TISSUE=Placenta;
RA   Fath I., Apiou F., Dutrillaux B., Tocque B.;
RL   Submitted (MAR-1996) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   INVOLVEMENT IN NS9, VARIANTS NS9 LYS-267; LYS-310; HIS-334; SER-376
RP   AND LEU-1092, AND VARIANTS ALA-449 AND ASN-952.
RX   PubMed=25795793; DOI=10.1136/jmedgenet-2015-103018;
RA   Yamamoto G.L., Aguena M., Gos M., Hung C., Pilch J., Fahiminiya S.,
RA   Abramowicz A., Cristian I., Buscarilli M., Naslavsky M.S.,
RA   Malaquias A.C., Zatz M., Bodamer O., Majewski J., Jorge A.A.,
RA   Pereira A.C., Kim C.A., Passos-Bueno M.R., Bertola D.R.;
RT   "Rare variants in SOS2 and LZTR1 are associated with Noonan
RT   syndrome.";
RL   J. Med. Genet. 52:413-421(2015).
CC   -!- FUNCTION: Promotes the exchange of Ras-bound GDP by GTP.
CC       {ECO:0000250|UniProtKB:Q62245}.
CC   -!- INTERACTION:
CC       P00519:ABL1; NbExp=2; IntAct=EBI-298181, EBI-375543;
CC       P46108:CRK; NbExp=2; IntAct=EBI-298181, EBI-886;
CC       P62993:GRB2; NbExp=8; IntAct=EBI-298181, EBI-401755;
CC       P16333:NCK1; NbExp=3; IntAct=EBI-298181, EBI-389883;
CC       Q9UKS6:PACSIN3; NbExp=2; IntAct=EBI-298181, EBI-77926;
CC       P19174:PLCG1; NbExp=4; IntAct=EBI-298181, EBI-79387;
CC       Q9Y5X1:SNX9; NbExp=2; IntAct=EBI-298181, EBI-77848;
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q07890-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q07890-2; Sequence=VSP_054492;
CC         Note=No experimental confirmation available.;
CC   -!- DISEASE: Noonan syndrome 9 (NS9) [MIM:616559]: A form of Noonan
CC       syndrome, a disease characterized by short stature, facial
CC       dysmorphic features such as hypertelorism, a downward eyeslant and
CC       low-set posteriorly rotated ears, and a high incidence of
CC       congenital heart defects and hypertrophic cardiomyopathy. Other
CC       features can include a short neck with webbing or redundancy of
CC       skin, deafness, motor delay, variable intellectual deficits,
CC       multiple skeletal defects, cryptorchidism, and bleeding diathesis.
CC       Individuals with Noonan syndrome are at risk of juvenile
CC       myelomonocytic leukemia, a myeloproliferative disorder
CC       characterized by excessive production of myelomonocytic cells.
CC       {ECO:0000269|PubMed:25795793}. Note=The disease is caused by
CC       mutations affecting the gene represented in this entry.
CC   -!- SIMILARITY: Contains 1 DH (DBL-homology) domain.
CC       {ECO:0000255|PROSITE-ProRule:PRU00062}.
CC   -!- SIMILARITY: Contains 1 N-terminal Ras-GEF domain.
CC       {ECO:0000255|PROSITE-ProRule:PRU00135}.
CC   -!- SIMILARITY: Contains 1 PH domain. {ECO:0000255|PROSITE-
CC       ProRule:PRU00145}.
CC   -!- SIMILARITY: Contains 1 Ras-GEF domain. {ECO:0000255|PROSITE-
CC       ProRule:PRU00168}.
CC   -!- WEB RESOURCE: Name=Wikipedia; Note=Son of sevenless entry;
CC       URL="https://en.wikipedia.org/wiki/Son_of_Sevenless";
DR   EMBL; L13858; AAA35914.1; -; mRNA.
DR   EMBL; AL109758; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471078; EAW65727.1; -; Genomic_DNA.
DR   EMBL; CH471078; EAW65728.1; -; Genomic_DNA.
DR   EMBL; BC143367; AAI43368.1; -; mRNA.
DR   EMBL; BC117261; AAI17262.1; -; mRNA.
DR   EMBL; L20686; AAA91852.1; -; mRNA.
DR   CCDS; CCDS9697.1; -. [Q07890-1]
DR   RefSeq; NP_008870.2; NM_006939.2. [Q07890-1]
DR   UniGene; Hs.291533; -.
DR   ProteinModelPortal; Q07890; -.
DR   SMR; Q07890; 7-179, 196-1044.
DR   BioGrid; 112538; 12.
DR   IntAct; Q07890; 17.
DR   MINT; MINT-1782446; -.
DR   STRING; 9606.ENSP00000216373; -.
DR   iPTMnet; Q07890; -.
DR   PhosphoSite; Q07890; -.
DR   BioMuta; SOS2; -.
DR   DMDM; 223634694; -.
DR   EPD; Q07890; -.
DR   MaxQB; Q07890; -.
DR   PaxDb; Q07890; -.
DR   PeptideAtlas; Q07890; -.
DR   PRIDE; Q07890; -.
DR   DNASU; 6655; -.
DR   Ensembl; ENST00000216373; ENSP00000216373; ENSG00000100485. [Q07890-1]
DR   Ensembl; ENST00000543680; ENSP00000445328; ENSG00000100485. [Q07890-2]
DR   GeneID; 6655; -.
DR   KEGG; hsa:6655; -.
DR   UCSC; uc001wxs.5; human. [Q07890-1]
DR   CTD; 6655; -.
DR   GeneCards; SOS2; -.
DR   H-InvDB; HIX0037776; -.
DR   HGNC; HGNC:11188; SOS2.
DR   HPA; CAB004577; -.
DR   HPA; HPA047368; -.
DR   HPA; HPA052689; -.
DR   MIM; 601247; gene.
DR   MIM; 616559; phenotype.
DR   neXtProt; NX_Q07890; -.
DR   PharmGKB; PA36025; -.
DR   eggNOG; KOG3417; Eukaryota.
DR   eggNOG; ENOG410XR96; LUCA.
DR   GeneTree; ENSGT00810000125349; -.
DR   HOGENOM; HOG000013040; -.
DR   HOVERGEN; HBG017831; -.
DR   InParanoid; Q07890; -.
DR   KO; K03099; -.
DR   OMA; KFNEHFS; -.
DR   OrthoDB; EOG091G04UL; -.
DR   PhylomeDB; Q07890; -.
DR   TreeFam; TF317296; -.
DR   Reactome; R-HSA-193648; NRAGE signals death through JNK.
DR   Reactome; R-HSA-194840; Rho GTPase cycle.
DR   Reactome; R-HSA-416482; G alpha (12/13) signalling events.
DR   Reactome; R-HSA-428540; Activation of Rac.
DR   SIGNOR; Q07890; -.
DR   ChiTaRS; SOS2; human.
DR   GenomeRNAi; 6655; -.
DR   PRO; PR:Q07890; -.
DR   Proteomes; UP000005640; Chromosome 14.
DR   Bgee; ENSG00000100485; -.
DR   CleanEx; HS_SOS2; -.
DR   ExpressionAtlas; Q07890; baseline and differential.
DR   Genevisible; Q07890; HS.
DR   GO; GO:0005829; C:cytosol; TAS:Reactome.
DR   GO; GO:0003677; F:DNA binding; IEA:InterPro.
DR   GO; GO:0005085; F:guanyl-nucleotide exchange factor activity; TAS:Reactome.
DR   GO; GO:0005089; F:Rho guanyl-nucleotide exchange factor activity; TAS:Reactome.
DR   GO; GO:0043065; P:positive regulation of apoptotic process; TAS:Reactome.
DR   GO; GO:0051057; P:positive regulation of small GTPase mediated signal transduction; IEA:Ensembl.
DR   GO; GO:0035023; P:regulation of Rho protein signal transduction; IEA:InterPro.
DR   GO; GO:0051056; P:regulation of small GTPase mediated signal transduction; TAS:Reactome.
DR   GO; GO:0007264; P:small GTPase mediated signal transduction; IEA:InterPro.
DR   CDD; cd06224; REM; 1.
DR   Gene3D; 1.10.20.10; -; 1.
DR   Gene3D; 1.10.840.10; -; 1.
DR   Gene3D; 1.20.900.10; -; 1.
DR   Gene3D; 2.30.29.30; -; 1.
DR   InterPro; IPR000219; DH-domain.
DR   InterPro; IPR009072; Histone-fold.
DR   InterPro; IPR007125; Histone_H2A/H2B/H3.
DR   InterPro; IPR011993; PH_dom-like.
DR   InterPro; IPR001849; PH_domain.
DR   InterPro; IPR000651; Ras-like_Gua-exchang_fac_N.
DR   InterPro; IPR019804; Ras_G-nucl-exch_fac_CS.
DR   InterPro; IPR023578; Ras_GEF_dom.
DR   InterPro; IPR001895; RASGEF_cat_dom.
DR   Pfam; PF00125; Histone; 1.
DR   Pfam; PF00169; PH; 1.
DR   Pfam; PF00617; RasGEF; 1.
DR   Pfam; PF00618; RasGEF_N; 1.
DR   Pfam; PF00621; RhoGEF; 1.
DR   SMART; SM00233; PH; 1.
DR   SMART; SM00147; RasGEF; 1.
DR   SMART; SM00229; RasGEFN; 1.
DR   SMART; SM00325; RhoGEF; 1.
DR   SUPFAM; SSF47113; SSF47113; 1.
DR   SUPFAM; SSF48065; SSF48065; 1.
DR   SUPFAM; SSF48366; SSF48366; 1.
DR   SUPFAM; SSF50729; SSF50729; 1.
DR   PROSITE; PS50010; DH_2; 1.
DR   PROSITE; PS50003; PH_DOMAIN; 1.
DR   PROSITE; PS00720; RASGEF; 1.
DR   PROSITE; PS50009; RASGEF_CAT; 1.
DR   PROSITE; PS50212; RASGEF_NTER; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Complete proteome; Disease mutation;
KW   Guanine-nucleotide releasing factor; Polymorphism; Reference proteome.
FT   CHAIN         1   1332       Son of sevenless homolog 2.
FT                                /FTId=PRO_0000068896.
FT   DOMAIN      198    388       DH. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00062}.
FT   DOMAIN      442    546       PH. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00145}.
FT   DOMAIN      595    739       N-terminal Ras-GEF. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00135}.
FT   DOMAIN      778   1017       Ras-GEF. {ECO:0000255|PROSITE-
FT                                ProRule:PRU00168}.
FT   COMPBIAS    755    758       Poly-Pro.
FT   COMPBIAS   1180   1183       Poly-Pro.
FT   COMPBIAS   1203   1208       Poly-Pro.
FT   VAR_SEQ     324    356       Missing (in isoform 2).
FT                                {ECO:0000303|PubMed:15489334}.
FT                                /FTId=VSP_054492.
FT   VARIANT     267    267       M -> K (in NS9).
FT                                {ECO:0000269|PubMed:25795793}.
FT                                /FTId=VAR_075686.
FT   VARIANT     310    310       N -> K (in NS9; unknown pathological
FT                                significance).
FT                                {ECO:0000269|PubMed:25795793}.
FT                                /FTId=VAR_075687.
FT   VARIANT     334    334       R -> H (in NS9; unknown pathological
FT                                significance; dbSNP:rs373233749).
FT                                {ECO:0000269|PubMed:25795793}.
FT                                /FTId=VAR_075688.
FT   VARIANT     376    376       T -> S (in NS9).
FT                                {ECO:0000269|PubMed:25795793}.
FT                                /FTId=VAR_075689.
FT   VARIANT     449    449       T -> A (in dbSNP:rs768547025).
FT                                {ECO:0000269|PubMed:25795793}.
FT                                /FTId=VAR_075690.
FT   VARIANT     483    483       S -> N (in dbSNP:rs17122201).
FT                                /FTId=VAR_054327.
FT   VARIANT     508    508       H -> Y (in dbSNP:rs8010237).
FT                                /FTId=VAR_054328.
FT   VARIANT     672    672       L -> I (in dbSNP:rs34139502).
FT                                /FTId=VAR_034441.
FT   VARIANT     952    952       D -> N (in dbSNP:rs200387871).
FT                                {ECO:0000269|PubMed:25795793}.
FT                                /FTId=VAR_075691.
FT   VARIANT    1092   1092       P -> L (in NS9; unknown pathological
FT                                significance).
FT                                {ECO:0000269|PubMed:25795793}.
FT                                /FTId=VAR_075692.
FT   CONFLICT     32     32       E -> V (in Ref. 1; AAA35914).
FT                                {ECO:0000305}.
FT   CONFLICT    192    192       S -> C (in Ref. 1; AAA35914).
FT                                {ECO:0000305}.
FT   CONFLICT    239    240       DI -> VY (in Ref. 1; AAA35914).
FT                                {ECO:0000305}.
FT   CONFLICT    381    381       L -> H (in Ref. 1; AAA35914).
FT                                {ECO:0000305}.
FT   CONFLICT    482    482       S -> T (in Ref. 1; AAA35914).
FT                                {ECO:0000305}.
FT   CONFLICT    687    687       I -> V (in Ref. 1; AAA35914).
FT                                {ECO:0000305}.
FT   CONFLICT    696    696       E -> D (in Ref. 1; AAA35914).
FT                                {ECO:0000305}.
FT   CONFLICT    699    699       F -> Y (in Ref. 1; AAA35914).
FT                                {ECO:0000305}.
FT   CONFLICT    778    778       H -> D (in Ref. 1; AAA35914).
FT                                {ECO:0000305}.
FT   CONFLICT    861    861       Q -> R (in Ref. 5; AAA91852).
FT                                {ECO:0000305}.
FT   CONFLICT    948    948       K -> R (in Ref. 1; AAA35914).
FT                                {ECO:0000305}.
FT   CONFLICT    999    999       S -> C (in Ref. 5; AAA91852).
FT                                {ECO:0000305}.
FT   CONFLICT   1032   1032       S -> E (in Ref. 5; AAA91852).
FT                                {ECO:0000305}.
FT   CONFLICT   1042   1042       T -> A (in Ref. 5; AAA91852).
FT                                {ECO:0000305}.
FT   CONFLICT   1112   1114       CGS -> LC (in Ref. 5; AAA91852).
FT                                {ECO:0000305}.
FT   CONFLICT   1159   1159       A -> G (in Ref. 5; AAA91852).
FT                                {ECO:0000305}.
FT   CONFLICT   1296   1296       Q -> E (in Ref. 5; AAA91852).
FT                                {ECO:0000305}.
SQ   SEQUENCE   1332 AA;  152979 MW;  0D1D4FAB8E37C371 CRC64;
     MQQAPQPYEF FSEENSPKWR GLLVSALRKV QEQVHPTLSA NEESLYYIEE LIFQLLNKLC
     MAQPRTVQDV EERVQKTFPH PIDKWAIADA QSAIEKRKRR NPLLLPVDKI HPSLKEVLGY
     KVDYHVSLYI VAVLEYISAD ILKLAGNYVF NIRHYEISQQ DIKVSMCADK VLMDMFDQDD
     IGLVSLCEDE PSSSGELNYY DLVRTEIAEE RQYLRELNMI IKVFREAFLS DRKLFKPSDI
     EKIFSNISDI HELTVKLLGL IEDTVEMTDE SSPHPLAGSC FEDLAEEQAF DPYETLSQDI
     LSPEFHEHFN KLMARPAVAL HFQSIADGFK EAVRYVLPRL MLVPVYHCWH YFELLKQLKA
     CSEEQEDREC LNQAITALMN LQGSMDRIYK QYSPRRRPGD PVCPFYSHQL RSKHLAIKKM
     NEIQKNIDGW EGKDIGQCCN EFIMEGPLTR IGAKHERHIF LFDGLMISCK PNHGQTRLPG
     YSSAEYRLKE KFVMRKIQIC DKEDTCEHKH AFELVSKDEN SIIFAAKSAE EKNNWMAALI
     SLHYRSTLDR MLDSVLLKEE NEQPLRLPSP EVYRFVVKDS EENIVFEDNL QSRSGIPIIK
     GGTVVKLIER LTYHMYADPN FVRTFLTTYR SFCKPQELLS LLIERFEIPE PEPTDADKLA
     IEKGEQPISA DLKRFRKEYV QPVQLRILNV FRHWVEHHFY DFERDLELLE RLESFISSVR
     GKAMKKWVES IAKIIRRKKQ AQANGVSHNI TFESPPPPIE WHISKPGQFE TFDLMTLHPI
     EIARQLTLLE SDLYRKVQPS ELVGSVWTKE DKEINSPNLL KMIRHTTNLT LWFEKCIVEA
     ENFEERVAVL SRIIEILQVF QDLNNFNGVL EIVSAVNSVS VYRLDHTFEA LQERKRKILD
     EAVELSQDHF KKYLVKLKSI NPPCVPFFGI YLTNILKTEE GNNDFLKKKG KDLINFSKRR
     KVAEITGEIQ QYQNQPYCLR IEPDMRRFFE NLNPMGSASE KEFTDYLFNK SLEIEPRNCK
     QPPRFPRKST FSLKSPGIRP NTGRHGSTSG TLRGHPTPLE REPCKISFSR IAETELESTV
     SAPTSPNTPS TPPVSASSDL SVFLDVDLNS SCGSNSIFAP VLLPHSKSFF SSCGSLHKLS
     EEPLIPPPLP PRKKFDHDAS NSKGNMKSDD DPPAIPPRQP PPPKVKPRVP VPTGAFDGPL
     HSPPPPPPRD PLPDTPPPVP LRPPEHFINC PFNLQPPPLG HLHRDSDWLR DISTCPNSPS
     TPPSTPSPRV PRRCYVLSSS QNNLAHPPAP PVPPRQNSSP HLPKLPPKTY KRELSHPPLY
     RLPLLENAET PQ
//
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