RAC2 (Rac family small GTPase 2)

Gene

• Entrez ID: 5880
• Gene name: Rac family small GTPase 2
• Gene symbol: RAC2
• Synonyms: EN-7, Gx, HSPC022, IMD73A, IMD73B, IMD73C, p21-Rac2
• Chromosome: 22
• Chromosome location: 22q13.1
• 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]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs74315507	C>T	Pathogenic	Coding sequence variant, missense variant
rs1555908409	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016574	hsa-miR-193b-3p	Microarray	20304954

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	22106281, 22949657, 32296183
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005525	Function	GTP binding	IMP	19625648
GO:0005635	Component	Nuclear envelope	IEA
GO:0005829	Component	Cytosol	IDA	19625648
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA	21873635
GO:0005884	Component	Actin filament	IDA	19625648
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005938	Component	Cell cortex	IBA	21873635
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0007015	Process	Actin filament organization	IMP	21167572
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA	21873635
GO:0007165	Process	Signal transduction	TAS	2674130
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0008045	Process	Motor neuron axon guidance	IBA	21873635
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0008360	Process	Regulation of cell shape	IBA	21873635
GO:0010310	Process	Regulation of hydrogen peroxide metabolic process	TAS	16636067
GO:0010592	Process	Positive regulation of lamellipodium assembly	IMP	19625648
GO:0010810	Process	Regulation of cell-substrate adhesion	IMP	21167572
GO:0016601	Process	Rac protein signal transduction	IBA	21873635
GO:0019887	Function	Protein kinase regulator activity	IEA
GO:0019901	Function	Protein kinase binding	IBA	21873635
GO:0030027	Component	Lamellipodium	IDA	19625648
GO:0030031	Process	Cell projection assembly	IBA	21873635
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0030865	Process	Cortical cytoskeleton organization	IBA	21873635
GO:0031410	Component	Cytoplasmic vesicle	IBA	21873635
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA	21873635
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0042995	Component	Cell projection	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043304	Process	Regulation of mast cell degranulation	IEA
GO:0043652	Process	Engulfment of apoptotic cell	IBA	21873635
GO:0045453	Process	Bone resorption	IEA
GO:0045454	Process	Cell redox homeostasis	TAS
GO:0045859	Process	Regulation of protein kinase activity	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051897	Process	Positive regulation of protein kinase B signaling	TAS
GO:0060263	Process	Regulation of respiratory burst	IDA	16636067
GO:0060753	Process	Regulation of mast cell chemotaxis	IEA
GO:0070062	Component	Extracellular exosome	HDA	20458337, 23533145
GO:0071593	Process	Lymphocyte aggregation	IMP	21167572
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	IMP	19625648
GO:1902622	Process	Regulation of neutrophil migration	IBA	21873635
GO:1902622	Process	Regulation of neutrophil migration	IMP	21167572
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810

Other IDs

• MIM: 602049
• HGNC: 9802
• e!Ensembl: ENSG00000128340

Protein

• UniProt ID: P15153
• Protein name: Ras-related C3 botulinum toxin substrate 2 (GX) (Small G protein) (p21-Rac2)
• Protein function: Plasma membrane-associated small GTPase which cycles between an active GTP-bound and inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses, such as secretory processes, phagocytose of apoptotic cells and epithelial cell polarization. Augments the production of reactive oxygen species (ROS) by NADPH oxidase.
• PDB: 1DS6, 2W2T, 2W2V, 2W2X
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00071	Ras	5 → 178	Ras family	Domain

• Sequence:

  MQAIKCVVVGDGAVGKTCLLISYTTNAFPGEYIPTVFDNYSANVMVDSKPVNLGLWDTAG
  QEDYDRLRPLSYPQTDVFLICFSLVSPASYENVRAKWFPEVRHHCPSTPIILVGTKLDLR
  DDKDTIEKLKEKKLAPITYPQGLALAKEIDSVKYLECSALTQRGLKTVFDEAIRAVLCPQ
  PTRQQKRACSLL

• Sequence length: 192