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UniProtKB - Q07890 (SOS2_HUMAN)

Entry version 186 (07 Oct 2020)
Sequence version 2 (10 Feb 2009)
Previous versions | rss
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionGuanine-nucleotide releasing factor

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q07890

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-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 RAC1
R-HSA-8983432, Interleukin-15 signaling

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q07890

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Son of sevenless homolog 2
Short name:
SOS-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:SOS2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000100485.11

Human Gene Nomenclature Database

More...HGNCi		HGNC:11188, SOS2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		601247, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q07890

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_075686267M → K in NS9. 1 PublicationCorresponds to variant dbSNP:rs797045167EnsemblClinVar.1
Natural variantiVAR_075687310N → K in NS9; unknown pathological significance. 1 Publication1
Natural variantiVAR_075688334R → H in NS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs373233749Ensembl.1
Natural variantiVAR_075689376T → S in NS9. 1 PublicationCorresponds to variant dbSNP:rs869320687EnsemblClinVar.1
Natural variantiVAR_0756921092P → L in NS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1442962879EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...DisGeNETi		6655

MalaCards human disease database

More...MalaCardsi		SOS2
MIMi616559, phenotype

Open Targets

More...OpenTargetsi		ENSG00000100485

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		648, Noonan syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA36025

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q07890, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		SOS2

Domain mapping of disease mutations (DMDM)

More...DMDMi		223634694

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000688961 – 1332Son of sevenless homolog 2Add BLAST1332

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei1321Asymmetric dimethylarginineBy similarity1

Keywords - PTMi

Methylation

Proteomic databases

The CPTAC Assay portal

More...CPTACi		CPTAC-1553

Encyclopedia of Proteome Dynamics

More...EPDi		Q07890

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q07890

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q07890

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q07890

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q07890

PeptideAtlas

More...PeptideAtlasi		Q07890

PRoteomics IDEntifications database

More...PRIDEi		Q07890

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		58555 [Q07890-1]
7192

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q07890

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q07890

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000100485, Expressed in biceps brachii and 255 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q07890, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q07890, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000100485, Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		112538, 13 interactors

Protein interaction database and analysis system

More...IntActi		Q07890, 31 interactors

Molecular INTeraction database

More...MINTi		Q07890

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000216373

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q07890, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11332
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q07890

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>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
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi755 – 758Poly-Pro4
Compositional biasi1180 – 1183Poly-Pro4
Compositional biasi1203 – 1208Poly-Pro6

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3417, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158324

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_002744_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q07890

KEGG Orthology (KO)

More...KOi		K03099

Identification of Orthologs from Complete Genome Data

More...OMAi		KVEHWDD

Database of Orthologous Groups

More...OrthoDBi		576110at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q07890

TreeFam database of animal gene trees

More...TreeFami		TF317296

Family and domain databases

Conserved Domains Database

More...CDDi		cd00155, RasGEF, 1 hit
cd06224, REM, 1 hit
cd00160, RhoGEF, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.20.10, 1 hit
1.10.840.10, 1 hit
1.20.900.10, 1 hit
2.30.29.30, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR035899, DBL_dom_sf
IPR000219, DH-domain
IPR009072, Histone-fold
IPR007125, Histone_H2A/H2B/H3
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR008937, Ras-like_GEF
IPR000651, Ras-like_Gua-exchang_fac_N
IPR019804, Ras_G-nucl-exch_fac_CS
IPR023578, Ras_GEF_dom_sf
IPR001895, RASGEF_cat_dom
IPR036964, RASGEF_cat_dom_sf

The PANTHER Classification System

More...PANTHERi		PTHR23113, PTHR23113, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00125, Histone, 1 hit
PF00169, PH, 1 hit
PF00617, RasGEF, 1 hit
PF00618, RasGEF_N, 1 hit
PF00621, RhoGEF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00233, PH, 1 hit
SM00147, RasGEF, 1 hit
SM00229, RasGEFN, 1 hit
SM00325, RhoGEF, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF47113, SSF47113, 1 hit
SSF48065, SSF48065, 1 hit
SSF48366, SSF48366, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50010, DH_2, 1 hit
PS50003, PH_DOMAIN, 1 hit
PS00720, RASGEF, 1 hit
PS50009, RASGEF_CAT, 1 hit
PS50212, RASGEF_NTER, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 2 potential isoforms that are computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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.

Show »
Length:1,299
Mass (Da):149,002
Checksum:iCDA5F7026EC96928
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X277A0A087X277_HUMAN
Son of sevenless homolog 2
SOS2
419Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
G3V5W3G3V5W3_HUMAN
Son of sevenless homolog 2
SOS2
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>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 PublicationCorresponds to variant dbSNP:rs797045167EnsemblClinVar.1
Natural variantiVAR_075687310N → K in NS9; unknown pathological significance. 1 Publication1
Natural variantiVAR_075688334R → H in NS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs373233749Ensembl.1
Natural variantiVAR_075689376T → S in NS9. 1 PublicationCorresponds to variant dbSNP:rs869320687EnsemblClinVar.1
Natural variantiVAR_075690449T → A1 PublicationCorresponds to variant dbSNP:rs768547025Ensembl.1
Natural variantiVAR_054327483S → N. Corresponds to variant dbSNP:rs17122201EnsemblClinVar.1
Natural variantiVAR_054328508H → Y. Corresponds to variant dbSNP:rs8010237Ensembl.1
Natural variantiVAR_034441672L → I. Corresponds to variant dbSNP:rs34139502EnsemblClinVar.1
Natural variantiVAR_075691952D → N1 PublicationCorresponds to variant dbSNP:rs200387871EnsemblClinVar.1
Natural variantiVAR_0756921092P → L in NS9; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1442962879EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_054492324 – 356Missing in isoform 2. 1 PublicationAdd BLAST33

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS9697.1 [Q07890-1]

NCBI Reference Sequences

More...RefSeqi		NP_008870.2, NM_006939.3 [Q07890-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000216373; ENSP00000216373; ENSG00000100485 [Q07890-1]
ENST00000543680; ENSP00000445328; ENSG00000100485 [Q07890-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		6655

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:6655

UCSC genome browser

More...UCSCi		uc001wxs.5, human [Q07890-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6EIEX-ray2.72A562-1047[»]
SMRiQ07890
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi112538, 13 interactors
IntActiQ07890, 31 interactors
MINTiQ07890
STRINGi9606.ENSP00000216373

PTM databases

iPTMnetiQ07890
PhosphoSitePlusiQ07890

Polymorphism and mutation databases

BioMutaiSOS2
DMDMi223634694

Proteomic databases

CPTACiCPTAC-1553
EPDiQ07890
jPOSTiQ07890
MassIVEiQ07890
MaxQBiQ07890
PaxDbiQ07890
PeptideAtlasiQ07890
PRIDEiQ07890
ProteomicsDBi58555 [Q07890-1]
7192

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		3885, 154 antibodies

The DNASU plasmid repository

More...DNASUi		6655

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		6655
DisGeNETi6655
EuPathDBiHostDB:ENSG00000100485.11

GeneCards: human genes, protein and diseases

More...GeneCardsi		SOS2
HGNCiHGNC:11188, SOS2
HPAiENSG00000100485, Low tissue specificity
MalaCardsiSOS2
MIMi601247, gene
616559, phenotype
neXtProtiNX_Q07890
OpenTargetsiENSG00000100485
Orphaneti648, Noonan syndrome
PharmGKBiPA36025

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3417, Eukaryota
GeneTreeiENSGT00940000158324
HOGENOMiCLU_002744_0_0_1
InParanoidiQ07890
KOiK03099
OMAiKVEHWDD
OrthoDBi576110at2759
PhylomeDBiQ07890
TreeFamiTF317296

Enzyme and pathway databases

PathwayCommonsiQ07890
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 RAC1
R-HSA-8983432, Interleukin-15 signaling
SIGNORiQ07890

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		6655, 3 hits in 870 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		SOS2, human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		6655
PharosiQ07890, Tbio

Protein Ontology

More...PROi		PR:Q07890
RNActiQ07890, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000100485, Expressed in biceps brachii and 255 other tissues
ExpressionAtlasiQ07890, baseline and differential
GenevisibleiQ07890, HS

Family and domain databases

CDDicd00155, RasGEF, 1 hit
cd06224, REM, 1 hit
cd00160, RhoGEF, 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
InterProiView protein in InterPro
IPR035899, DBL_dom_sf
IPR000219, DH-domain
IPR009072, Histone-fold
IPR007125, Histone_H2A/H2B/H3
IPR011993, PH-like_dom_sf
IPR001849, PH_domain
IPR008937, Ras-like_GEF
IPR000651, Ras-like_Gua-exchang_fac_N
IPR019804, Ras_G-nucl-exch_fac_CS
IPR023578, Ras_GEF_dom_sf
IPR001895, RASGEF_cat_dom
IPR036964, RASGEF_cat_dom_sf
PANTHERiPTHR23113, PTHR23113, 1 hit
PfamiView protein in Pfam
PF00125, Histone, 1 hit
PF00169, PH, 1 hit
PF00617, RasGEF, 1 hit
PF00618, RasGEF_N, 1 hit
PF00621, RhoGEF, 1 hit
SMARTiView protein in SMART
SM00233, PH, 1 hit
SM00147, RasGEF, 1 hit
SM00229, RasGEFN, 1 hit
SM00325, RhoGEF, 1 hit
SUPFAMiSSF47113, SSF47113, 1 hit
SSF48065, SSF48065, 1 hit
SSF48366, SSF48366, 1 hit
PROSITEiView protein in PROSITE
PS50010, DH_2, 1 hit
PS50003, PH_DOMAIN, 1 hit
PS00720, RASGEF, 1 hit
PS50009, RASGEF_CAT, 1 hit
PS50212, RASGEF_NTER, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSOS2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q07890
Secondary accession number(s): B7ZKT6
, D3DSB4, Q15503, Q17RN1
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: February 10, 2009
Last modified: October 7, 2020
This is version 186 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

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