LOCUS       NP_008870               1332 aa            linear   PRI 27-APR-2025
DEFINITION  son of sevenless homolog 2 isoform 1 [Homo sapiens].
ACCESSION   NP_008870 XP_043720
VERSION     NP_008870.2
DBSOURCE    REFSEQ: accession NM_006939.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (residues 1 to 1332)
  AUTHORS   Lin,Q., Qiu,M., Wei,X., Xiang,Z., Zhou,Z., Ji,I., Liang,X.,
            Zhou,X., Wen,Q., Liu,Y. and Yu,H.
  TITLE     Genetic variants of SOS2, MAP2K1 and RASGRF2 in the RAS pathway
            genes predict survival of HBV-related hepatocellular carcinoma
            patients
  JOURNAL   Arch Toxicol 97 (6), 1599-1611 (2023)
   PUBMED   37029817
  REMARK    GeneRIF: Genetic variants of SOS2, MAP2K1 and RASGRF2 in the RAS
            pathway genes predict survival of HBV-related hepatocellular
            carcinoma patients.
REFERENCE   2  (residues 1 to 1332)
  AUTHORS   Benz,C., Ali,M., Krystkowiak,I., Simonetti,L., Sayadi,A.,
            Mihalic,F., Kliche,J., Andersson,E., Jemth,P., Davey,N.E. and
            Ivarsson,Y.
  TITLE     Proteome-scale mapping of binding sites in the unstructured regions
            of the human proteome
  JOURNAL   Mol Syst Biol 18 (1), e10584 (2022)
   PUBMED   35044719
REFERENCE   3  (residues 1 to 1332)
  AUTHORS   Gentile,M., Fanelli,T., Lepri,F.R., Gentile,A., Orsini,P.,
            Volpe,P., Novelli,A. and Ficarella,R.
  TITLE     First prenatal case of Noonan syndrome with SOS2 mutation:
            Implications of early diagnosis for genetic counseling
  JOURNAL   Am J Med Genet A 185 (6), 1897-1902 (2021)
   PUBMED   33750022
  REMARK    GeneRIF: First prenatal case of Noonan syndrome with SOS2 mutation:
            Implications of early diagnosis for genetic counseling.
REFERENCE   4  (residues 1 to 1332)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   5  (residues 1 to 1332)
  AUTHORS   Yamamoto,G.L., Aguena,M., Gos,M., Hung,C., Pilch,J., Fahiminiya,S.,
            Abramowicz,A., Cristian,I., Buscarilli,M., Naslavsky,M.S.,
            Malaquias,A.C., Zatz,M., Bodamer,O., Majewski,J., Jorge,A.A.,
            Pereira,A.C., Kim,C.A., Passos-Bueno,M.R. and Bertola,D.R.
  TITLE     Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
  JOURNAL   J Med Genet 52 (6), 413-421 (2015)
   PUBMED   25795793
  REMARK    GeneRIF: We identified two novel genes, SOS2 and LZTR1, associated
            with Noonan syndrome, thereby expanding the molecular spectrum of
            RASopathies.
REFERENCE   6  (residues 1 to 1332)
  AUTHORS   Ingham,R.J., Krebs,D.L., Barbazuk,S.M., Turck,C.W., Hirai,H.,
            Matsuda,M. and Gold,M.R.
  TITLE     B cell antigen receptor signaling induces the formation of
            complexes containing the Crk adapter proteins
  JOURNAL   J Biol Chem 271 (50), 32306-32314 (1996)
   PUBMED   8943292
REFERENCE   7  (residues 1 to 1332)
  AUTHORS   Yang,S.S., Van Aelst,L. and Bar-Sagi,D.
  TITLE     Differential interactions of human Sos1 and Sos2 with Grb2
  JOURNAL   J Biol Chem 270 (31), 18212-18215 (1995)
   PUBMED   7629138
REFERENCE   8  (residues 1 to 1332)
  AUTHORS   Webb,G.C., Jenkins,N.A., Largaespada,D.A., Copeland,N.G.,
            Fernandez,C.S. and Bowtell,D.D.
  TITLE     Mammalian homologues of the Drosophila Son of sevenless gene map to
            murine chromosomes 17 and 12 and to human chromosomes 2 and 14,
            respectively
  JOURNAL   Genomics 18 (1), 14-19 (1993)
   PUBMED   8276400
REFERENCE   9  (residues 1 to 1332)
  AUTHORS   Chardin,P., Camonis,J.H., Gale,N.W., van Aelst,L., Schlessinger,J.,
            Wigler,M.H. and Bar-Sagi,D.
  TITLE     Human Sos1: a guanine nucleotide exchange factor for Ras that binds
            to GRB2
  JOURNAL   Science 260 (5112), 1338-1343 (1993)
   PUBMED   8493579
REFERENCE   10 (residues 1 to 1332)
  AUTHORS   Roberts,A.E.
  TITLE     Noonan Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301303
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL109758.3, AI419975.1,
            BC117261.1 and R20624.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 3, 2007 this sequence version replaced NP_008870.1.
            
            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].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC117261.1, AB209277.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216373.10/ ENSP00000216373.5
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..1332
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q21.3"
     Protein         1..1332
                     /product="son of sevenless homolog 2 isoform 1"
                     /note="guanine nucleotide releasing factor; son of
                     sevenless homolog 2"
                     /calculated_mol_wt=152849
     Region          18..95
                     /region_name="HFD_SOS1_rpt1"
                     /note="first histone-fold domain found in son of sevenless
                     homolog 1 (SOS-1) and similar proteins; cd22914"
                     /db_xref="CDD:467039"
     Region          104..176
                     /region_name="HFD_SOS1_rpt2"
                     /note="second histone-fold domain found in son of
                     sevenless homolog 1 (SOS-1) and similar proteins; cd22915"
                     /db_xref="CDD:467040"
     Region          199..386
                     /region_name="RhoGEF"
                     /note="Guanine nucleotide exchange factor for
                     Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous
                     (DH) domain. It appears that PH domains invariably occur
                     C-terminal to RhoGEF/DH domains; cd00160"
                     /db_xref="CDD:238091"
     Site            order(205,209,310,338..339,342..343,345..346,349..350,
                     353..354,357,382,386)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:238091"
     Region          437..543
                     /region_name="PH_SOS"
                     /note="Son of Sevenless (SOS) Pleckstrin homology (PH)
                     domain; cd01261"
                     /db_xref="CDD:269963"
     Region          595..739
                     /region_name="RasGEFN"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     GTPases; N-terminal motif; smart00229"
                     /db_xref="CDD:214571"
     Site            order(614,681,685..686,689,692..693,726..727,730,737)
                     /site_type="other"
                     /note="GTPase interaction site [polypeptide binding]"
                     /db_xref="CDD:100121"
     Region          774..1013
                     /region_name="RasGEF"
                     /note="Guanine nucleotide exchange factor for Ras-like
                     small GTPases. Small GTP-binding proteins of the Ras
                     superfamily function as molecular switches in fundamental
                     events such as signal transduction, cytoskeleton dynamics
                     and intracellular trafficking; cd00155"
                     /db_xref="CDD:238087"
     Site            order(807..809,819..820,822..824,826..827,830..831,834,
                     867,870..871,873..875,877..880,882..883,903,909..911,914,
                     927..929,932..934,936..938,940..943,961,965,1005,
                     1008..1009)
                     /site_type="other"
                     /note="Ras interaction site [polypeptide binding]"
                     /db_xref="CDD:238087"
     Region          1018..1061
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07890.2)"
     Region          1076..1096
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07890.2)"
     Region          1142..1332
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q07890.2)"
     Site            1321
                     /site_type="methylation"
                     /note="Asymmetric dimethylarginine.
                     /evidence=ECO:0000250|UniProtKB:Q02384; propagated from
                     UniProtKB/Swiss-Prot (Q07890.2)"
     CDS             1..1332
                     /gene="SOS2"
                     /gene_synonym="NS9; SOS-2"
                     /coded_by="NM_006939.4:296..4294"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS9697.1"
                     /db_xref="GeneID:6655"
                     /db_xref="HGNC:HGNC:11188"
                     /db_xref="MIM:601247"
ORIGIN      
        1 mqqapqpyef fseenspkwr gllvsalrkv qeqvhptlsa neeslyyiee lifqllnklc
       61 maqprtvqdv eervqktfph pidkwaiada qsaiekrkrr nplllpvdki hpslkevlgy
      121 kvdyhvslyi vavleyisad ilklagnyvf nirhyeisqq dikvsmcadk vlmdmfdqdd
      181 iglvslcede psssgelnyy dlvrteiaee rqylrelnmi ikvfreafls drklfkpsdi
      241 ekifsnisdi heltvkllgl iedtvemtde ssphplagsc fedlaeeqaf dpyetlsqdi
      301 lspefhehfn klmarpaval hfqsiadgfk eavryvlprl mlvpvyhcwh yfellkqlka
      361 cseeqedrec lnqaitalmn lqgsmdriyk qysprrrpgd pvcpfyshql rskhlaikkm
      421 neiqknidgw egkdigqccn efimegpltr igakherhif lfdglmisck pnhgqtrlpg
      481 yssaeyrlke kfvmrkiqic dkedtcehkh afelvskden siifaaksae eknnwmaali
      541 slhyrstldr mldsvllkee neqplrlpsp evyrfvvkds eenivfednl qsrsgipiik
      601 ggtvvklier ltyhmyadpn fvrtflttyr sfckpqells llierfeipe peptdadkla
      661 iekgeqpisa dlkrfrkeyv qpvqlrilnv frhwvehhfy dferdlelle rlesfissvr
      721 gkamkkwves iakiirrkkq aqangvshni tfesppppie whiskpgqfe tfdlmtlhpi
      781 eiarqltlle sdlyrkvqps elvgsvwtke dkeinspnll kmirhttnlt lwfekcivea
      841 enfeervavl sriieilqvf qdlnnfngvl eivsavnsvs vyrldhtfea lqerkrkild
      901 eavelsqdhf kkylvklksi nppcvpffgi yltnilktee gnndflkkkg kdlinfskrr
      961 kvaeitgeiq qyqnqpyclr iepdmrrffe nlnpmgsase keftdylfnk sleieprnck
     1021 qpprfprkst fslkspgirp ntgrhgstsg tlrghptple repckisfsr iaetelestv
     1081 saptspntps tppvsassdl svfldvdlns scgsnsifap vllphsksff sscgslhkls
     1141 eeplippplp prkkfdhdas nskgnmksdd dppaipprqp pppkvkprvp vptgafdgpl
     1201 hspppppprd plpdtpppvp lrppehfinc pfnlqppplg hlhrdsdwlr distcpnsps
     1261 tppstpsprv prrcyvlsss qnnlahppap pvpprqnssp hlpklppkty krelshpply
     1321 rlpllenaet pq
//
