RAC2 Rac family small GTPase 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RAC2provided by HGNC
Official Full Name: Rac family small GTPase 2provided by HGNC
Primary source: HGNC:HGNC:9802
See related: Ensembl:ENSG00000128340 MIM:602049; AllianceGenome:HGNC:9802
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: Gx; EN-7; IMD73A; IMD73B; IMD73C; HSPC022; p21-Rac2
Summary: This gene encodes a member of the Ras superfamily of small guanosine triphosphate (GTP)-metabolizing proteins. The encoded protein localizes to the plasma membrane, where it regulates diverse processes, such as secretion, phagocytosis, and cell polarization. Activity of this protein is also involved in the generation of reactive oxygen species. Mutations in this gene are associated with neutrophil immunodeficiency syndrome. There is a pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul 2013]
Expression: Biased expression in lymph node (RPKM 157.7), bone marrow (RPKM 130.6) and 9 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (37225270..37244269, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (37685220..37704752, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (37621310..37640309, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Clinical and functional spectrum of RAC2-related immunodeficiency.
Title: Clinical and functional spectrum of RAC2-related immunodeficiency.
Rac2 regulates immune complex-mediated granule polarization and exocytosis in neutrophils.
Title: Rac2 regulates immune complex-mediated granule polarization and exocytosis in neutrophils.
Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.
Title: Not too little, not too much: the impact of mutation types in Wiskott-Aldrich syndrome and RAC2 patients.
Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.
Title: Pathophysiological Mechanisms in Neurodevelopmental Disorders Caused by Rac GTPases Dysregulation: What's behind Neuro-RACopathies.
A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency.
Title: A Novel RAC2 Variant Presenting as Severe Combined Immunodeficiency.
Functional role of iNOS-Rac2 interaction in neutrophil extracellular traps (NETs) induced cytotoxicity in sepsis.
Title: Functional role of iNOS-Rac2 interaction in neutrophil extracellular traps (NETs) induced cytotoxicity in sepsis.
A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.
Title: A gain-of-function RAC2 mutation is associated with bone-marrow hypoplasia and an autosomal dominant form of severe combined immunodeficiency.
The Rac2 GTPase contributes to cathepsin H-mediated protection against cytokine-induced apoptosis in insulin-secreting cells.
Title: The Rac2 GTPase contributes to cathepsin H-mediated protection against cytokine-induced apoptosis in insulin-secreting cells.
The molecular basis for immune dysregulation by the hyperactivated E62K mutant of the GTPase RAC2.
Title: The molecular basis for immune dysregulation by the hyperactivated E62K mutant of the GTPase RAC2.
A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease.
Title: A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease.

Submit: New GeneRIF Correction See all GeneRIFs (66)

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
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia MedGen: C5436549 OMIM: 618986 GeneReviews: Not available	not available
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia MedGen: C5436550 OMIM: 618987 GeneReviews: Not available	not available
Neutrophil immunodeficiency syndrome MedGen: C1842398 OMIM: 608203 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases. EBI GWAS Catalog EBI GWAS CatalogPubMed
Joint influence of small-effect genetic variants on human longevity. EBI GWAS Catalog EBI GWAS CatalogPubMed
Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Interaction of HIV-1 Nef with a protein complex, which includes Rac2, DOCK2, and ELMO1, activates Rac activity in T cells	PubMed
Tat	tat	In Jurkat cells expressing HIV-1 Tat, decreased expression levels are found for basic cytoskeletal proteins such as actin, beta-tubulin, annexin, cofilin, gelsolin, and Rac/Rho-GDI complex	PubMed
	tat	HIV-1 Tat activates the small GTPases Ras and Rac and the mitogen-activated protein kinase ERK when expressed in human endothelial cells; this effect is mediated through the arginine-glycine-aspartic (RGD) region of Tat	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-AA033975 (e-PCR)
- UniSTS:68171

D22S1122E (e-PCR)
- UniSTS:153972

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTP binding	IBA Inferred from Biological aspect of Ancestor more info
enables GTP binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables GTPase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase regulator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in actin filament organization	IBA Inferred from Biological aspect of Ancestor more info
involved_in actin filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in bone resorption	IEA Inferred from Electronic Annotation more info
involved_in cell projection assembly	IEA Inferred from Electronic Annotation more info
involved_in chemotaxis	IBA Inferred from Biological aspect of Ancestor more info
involved_in erythrocyte enucleation	IEA Inferred from Electronic Annotation more info
involved_in lymphocyte aggregation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mast cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of lamellipodium assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of lamellipodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of mast cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of neutrophil chemotaxis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of protein targeting to mitochondrion	HMP more info	PubMed
involved_in regulation of T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in regulation of cell-substrate adhesion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of hydrogen peroxide metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in regulation of mast cell chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in regulation of mast cell degranulation	IEA Inferred from Electronic Annotation more info
involved_in regulation of neutrophil migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neutrophil migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of respiratory burst	IDA Inferred from Direct Assay more info	PubMed
involved_in respiratory burst	NAS Non-traceable Author Statement more info	PubMed
involved_in signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in small GTPase-mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of NADPH oxidase complex	NAS Non-traceable Author Statement more info	PubMed
colocalizes_with actin filament	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in lamellipodium	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial outer membrane	TAS Traceable Author Statement more info
located_in nuclear envelope	IEA Inferred from Electronic Annotation more info
located_in phagocytic vesicle membrane	TAS Traceable Author Statement more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	NAS Non-traceable Author Statement more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ras-related C3 botulinum toxin substrate 2

Names: Ras-related C3 botulinum toxin substrate 3 (rho family, small GTP-binding protein Rac2); ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2); small G protein

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_007288.1 RefSeqGene

Range

4967..24005

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_97

mRNA and Protein(s)

NM_002872.5 → NP_002863.1 ras-related C3 botulinum toxin substrate 2

See identical proteins and their annotated locations for NP_002863.1

Status: REVIEWED

Source sequence(s)

AF077208, BC001485, BI908751, BQ934070, Z82188

Consensus CDS

CCDS13945.1

UniProtKB/Swiss-Prot

P15153, Q9UDJ4

UniProtKB/TrEMBL

B1AH80

Related

ENSP00000249071.6, ENST00000249071.11

Conserved Domains (1) summary

cd01871
Location:3 → 176

Rac1_like; Ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)-like consists of Rac1, Rac2 and Rac3

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

37225270..37244269 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006724286.4 → XP_006724349.1 ras-related C3 botulinum toxin substrate 2 isoform X1

UniProtKB/TrEMBL

B1AH78

Conserved Domains (2) summary

TIGR00231
Location:4 → 151

small_GTP; small GTP-binding protein domain

cl21455
Location:3 → 149

P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases