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SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 [ Homo sapiens (human) ]

Gene ID: 6655, updated on 1-Jun-2020

Summary

Official Symbol
SOS2provided by HGNC
Official Full Name
SOS Ras/Rho guanine nucleotide exchange factor 2provided by HGNC
Primary source
HGNC:HGNC:11188
See related
Ensembl:ENSG00000100485 MIM:601247
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
NS9; SOS-2
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]
Expression
Ubiquitous expression in testis (RPKM 19.8), thyroid (RPKM 17.5) and 25 other tissues See more
Orthologs

Genomic context

See SOS2 in Genome Data Viewer
Location:
14q21.3
Exon count:
23
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (50117130..50231578, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50583846..50698596, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1599 Neighboring gene RN7SK pseudogene 193 Neighboring gene valosin containing protein lysine methyltransferase Neighboring gene L-2-hydroxyglutarate dehydrogenase Neighboring gene microRNA 4504 Neighboring gene distal membrane arm assembly complex 2 like Neighboring gene cyclin dependent kinase like 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Noonan syndrome 9
MedGen: C4225282 OMIM: 616559 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Genome-wide association study of periodontal health measured by probing depth in adults ages 18-49 years.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ25596

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
nucleosome IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
son of sevenless homolog 2
Names
guanine nucleotide releasing factor

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_051073.1 RefSeqGene

    Range
    5116..119564
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_006939.4NP_008870.2  son of sevenless homolog 2

    See identical proteins and their annotated locations for NP_008870.2

    Status: REVIEWED

    Source sequence(s)
    AI419975, AL109758, BC117261, R20624
    Consensus CDS
    CCDS9697.1
    UniProtKB/Swiss-Prot
    Q07890
    Related
    ENSP00000216373.5, ENST00000216373.10
    Conserved Domains (6) summary
    smart00229
    Location:595739
    RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif
    cd00155
    Location:7741013
    RasGEF; 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. ...
    cd00160
    Location:199386
    RhoGEF; 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.
    cd01261
    Location:437543
    PH_SOS; Son of Sevenless (SOS) Pleckstrin homology (PH) domain
    pfam16768
    Location:10231142
    NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein
    cl23830
    Location:63169
    Histone; Core histone H2A/H2B/H3/H4

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    50117130..50231578 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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