• Gene id: 5880

Gene Summary

• Gene Symbol: RAC2   Gene   UCSC   Ensembl
• Aliases: EN-7, Gx, HSPC022, p21-Rac2
• Gene name: Rac family small GTPase 2
• Alternate names: ras-related C3 botulinum toxin substrate 2, 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,
• Gene location: 22q13.1 (37244268: 37225269)     Exons: 8     NC_000022.11
• Gene summary(Entrez): 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 polarizati
• OMIM: 607327

Protein Summary

• Protein general information: P15153  
  • Name: Ras related C3 botulinum toxin substrate 2 (GX) (Small G protein) (p21 Rac2)
  • Length: 192  
  • Mass: 21429
  • Tissue specificity: Hematopoietic specific.
• Sequence:

  MQAIKCVVVGDGAVGKTCLLISYTTNAFPGEYIPTVFDNYSANVMVDSKPVNLGLWDTAGQEDYDRLRPLSYPQT
  DVFLICFSLVSPASYENVRAKWFPEVRHHCPSTPIILVGTKLDLRDDKDTIEKLKEKKLAPITYPQGLALAKEID
  SVKYLECSALTQRGLKTVFDEAIRAVLCPQPTRQQKRACSLL

• Structural information:
  • Interpro: IPR027417  IPR005225  IPR001806  IPR003578  
  • Prosite: PS51420
  • PDB: 1DS6 2W2T 2W2V 2W2X
  • PDBsum: 1DS6 2W2T 2W2V 2W2X
  • DIP: 34291
  • STRING: ENSP00000249071
• Other Databases: GeneCards:  RAC2  Malacards:  RAC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1903955	positive regulation of protein targeting to mitochondrion	HMP	biological process
GO:1902622	regulation of neutrophil migration	IBA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IBA	biological process
GO:0019901	protein kinase binding	IBA	molecular function
GO:0008045	motor neuron axon guidance	IBA	biological process
GO:0007163	establishment or maintenance of cell polarity	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0005856	cytoskeleton	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0043652	engulfment of apoptotic cell	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0042995	cell projection	IBA	cellular component
GO:0031410	cytoplasmic vesicle	IBA	cellular component
GO:0030865	cortical cytoskeleton organization	IBA	biological process
GO:0030036	actin cytoskeleton organization	IBA	biological process
GO:0030031	cell projection assembly	IBA	biological process
GO:0016601	Rac protein signal transduction	IBA	biological process
GO:0008360	regulation of cell shape	IBA	biological process
GO:0007015	actin filament organization	IBA	biological process
GO:0005938	cell cortex	IBA	cellular component
GO:0005525	GTP binding	IBA	molecular function
GO:0003924	GTPase activity	IBA	molecular function
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003924	GTPase activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0030670	phagocytic vesicle membrane	TAS	cellular component
GO:0045454	cell redox homeostasis	TAS	biological process
GO:0051897	positive regulation of protein kinase B signaling	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0060753	regulation of mast cell chemotaxis	IEA	biological process
GO:0042129	regulation of T cell proliferation	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0030031	cell projection assembly	IEA	biological process
GO:0019887	protein kinase regulator activity	IEA	molecular function
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0045453	bone resorption	IEA	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	IEA	biological process
GO:0043304	regulation of mast cell degranulation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0010592	positive regulation of lamellipodium assembly	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0006935	chemotaxis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005635	nuclear envelope	IEA	cellular component
GO:0060263	regulation of respiratory burst	IDA	biological process
GO:0010310	regulation of hydrogen peroxide metabolic process	TAS	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0045859	regulation of protein kinase activity	IEA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0030027	lamellipodium	IDA	cellular component
GO:0005884	actin filament	IDA	colocalizes with
GO:0005525	GTP binding	IMP	molecular function
GO:0007015	actin filament organization	IMP	biological process
GO:0090023	positive regulation of neutrophil chemotaxis	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0071593	lymphocyte aggregation	IMP	biological process
GO:0010810	regulation of cell-substrate adhesion	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0010592	positive regulation of lamellipodium assembly	IMP	biological process
GO:1902622	regulation of neutrophil migration	IMP	biological process
GO:0005925	focal adhesion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04010	MAPK signaling pathway
hsa04014	Ras signaling pathway
hsa04810	Regulation of actin cytoskeleton
hsa04015	Rap1 signaling pathway
hsa04024	cAMP signaling pathway
hsa05163	Human cytomegalovirus infection
hsa04062	Chemokine signaling pathway
hsa04510	Focal adhesion
hsa04360	Axon guidance
hsa05170	Human immunodeficiency virus 1 infection
hsa04310	Wnt signaling pathway
hsa05418	Fluid shear stress and atherosclerosis
hsa05135	Yersinia infection
hsa04071	Sphingolipid signaling pathway
hsa04670	Leukocyte transendothelial migration
hsa04650	Natural killer cell mediated cytotoxicity
hsa05231	Choline metabolism in cancer
hsa04666	Fc gamma R-mediated phagocytosis
hsa04662	B cell receptor signaling pathway
hsa05210	Colorectal cancer
hsa04664	Fc epsilon RI signaling pathway
hsa05212	Pancreatic cancer
hsa04520	Adherens junction
hsa04370	VEGF signaling pathway
hsa05416	Viral myocarditis

Diseases

Associated diseases	References
Leukocyte adhesion deficiency	KEGG:H00099
Leukocyte adhesion deficiency	KEGG:H00099
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R