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

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; AllianceGenome:HGNC:11188
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: mouse all
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Genomic context

Location:: 14q21.3

Exon count:: 28

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	14	NC_000014.9 (50117130..50231882, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	14	NC_060938.1 (44323369..44437823, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	14	NC_000014.8 (50583848..50698296, complement)

Chromosome 14 - NC_000014.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Genetic variants of SOS2, MAP2K1 and RASGRF2 in the RAS pathway genes predict survival of HBV-related hepatocellular carcinoma patients.
Title: Genetic variants of SOS2, MAP2K1 and RASGRF2 in the RAS pathway genes predict survival of HBV-related hepatocellular carcinoma patients.
First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.
Title: First prenatal case of Noonan syndrome with SOS2 mutation: Implications of early diagnosis for genetic counseling.
Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
Title: Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.
miR-148a-3p inhibits NSCLC cells proliferation and epithelial-mesenchymal transition by reducing the expression of SOS2
Title: microRNA-148a-3p inhibited the proliferation and epithelial-mesenchymal transition progression of non-small-cell lung cancer via modulating Ras/MAPK/Erk signaling.
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome
Title: Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
We identified two novel genes, SOS2 and LZTR1, associated with Noonan syndrome, thereby expanding the molecular spectrum of RASopathies.
Title: Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
multicenter pharmacogenetic study in children (ages 6-11): Data suggest that SNP in SOS2 (rs13379306) in children with growth hormone deficiency is associated with drug resistance to hormone replacement therapy with recombinant human growth hormone.
Title: A pharmacogenomic approach to the treatment of children with GH deficiency or Turner syndrome.
intracellular Francisella tularensis novicida triggers temporal and early activation of Ras through the SOS2/GrB2/PKCalpha/PKCbetaI quaternary complex; Ras signalling by intracellular F. tularensis is essential for intracellular proliferation in the cytosol
Title: Triggering Ras signalling by intracellular Francisella tularensis through recruitment of PKCα and βI to the SOS2/GrB2 complex is essential for bacterial proliferation in the cytosol.
Loss of MADD expression resulted in reduced Grb2 and Sos1/2 recruitment to the TNFR1 complex and decreased Ras and MEKK1/2 activation
Title: MADD, a splice variant of IG20, is indispensable for MAPK activation and protection against apoptosis upon tumor necrosis factor-alpha treatment.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutation of ARHGAP9 in patients with coronary spastic angina.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Noonan syndrome 9 MedGen: C4225282 OMIM: 616559 GeneReviews: Noonan Syndrome	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G35626 (e-PCR)
- UniSTS:16385

D14S945 (e-PCR)
- UniSTS:57658

D13S1686 (e-PCR)
- UniSTS:80780

G35790 (e-PCR)
- UniSTS:27808

D14S166 (e-PCR)
- UniSTS:148390

G35441 (e-PCR)
- UniSTS:19369

WI-16425 (e-PCR)
- UniSTS:14518

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in B cell homeostasis	IEA Inferred from Electronic Annotation more info
involved_in Ras protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of small GTPase mediated signal transduction	IEA Inferred from Electronic Annotation more info
involved_in regulation of T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in regulation of T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of pro-B cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: son of sevenless homolog 2

Names: guanine nucleotide releasing factor

NCBI Reference Sequences (RefSeq)

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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

NG_051073.1 RefSeqGene

Range

5116..119564

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001411020.1 → NP_001397949.1 son of sevenless homolog 2 isoform 2

Status: REVIEWED

Source sequence(s)

AL109758

Consensus CDS

CCDS91874.1

Related

ENSP00000445328.1, ENST00000543680.5
NM_006939.4 → NP_008870.2 son of sevenless homolog 2 isoform 1

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

B7ZKT6, D3DSB4, Q07890, Q15503, Q17RN1

UniProtKB/TrEMBL

B7ZKT5

Related

ENSP00000216373.5, ENST00000216373.10

Conserved Domains (6) summary

smart00229
Location:595 → 739

RasGEFN; Guanine nucleotide exchange factor for Ras-like GTPases; N-terminal motif

cd00155
Location:774 → 1013

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:199 → 386

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:437 → 543

PH_SOS; Son of Sevenless (SOS) Pleckstrin homology (PH) domain

pfam16768
Location:1023 → 1142

NupH_GANP; Nucleoporin homology of Germinal-centre associated nuclear protein

cl23830
Location:63 → 169

Histone; Core histone H2A/H2B/H3/H4