RAC2 (Rac family small GTPase 2)

Gene

• Entrez ID: 5880
• Gene name: Rac family small GTPase 2
• Gene symbol: RAC2
• Synonyms (NCBI Gene): 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 polarizati

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
MIRT755715	hsa-miR-1246	Western blotting, RNA-seq	38287447
MIRT1287073	hsa-miR-103a	CLIP-seq
MIRT1287074	hsa-miR-107	CLIP-seq
MIRT1287075	hsa-miR-122	CLIP-seq
MIRT1287076	hsa-miR-1914	CLIP-seq
MIRT1287077	hsa-miR-3180-5p	CLIP-seq
MIRT1287078	hsa-miR-3199	CLIP-seq
MIRT1287079	hsa-miR-342-5p	CLIP-seq
MIRT1287080	hsa-miR-3664-3p	CLIP-seq
MIRT1287081	hsa-miR-3937	CLIP-seq
MIRT1287082	hsa-miR-3944-5p	CLIP-seq
MIRT1287083	hsa-miR-4515	CLIP-seq
MIRT1287084	hsa-miR-4648	CLIP-seq
MIRT1287085	hsa-miR-4651	CLIP-seq
MIRT1287086	hsa-miR-4661-3p	CLIP-seq
MIRT1287087	hsa-miR-4664-5p	CLIP-seq
MIRT1287088	hsa-miR-4677-3p	CLIP-seq
MIRT1287089	hsa-miR-520a-5p	CLIP-seq
MIRT1287090	hsa-miR-525-5p	CLIP-seq
MIRT1287091	hsa-miR-608	CLIP-seq
MIRT1287092	hsa-miR-887	CLIP-seq
MIRT1287093	hsa-miR-922	CLIP-seq
MIRT1556923	hsa-miR-1286	CLIP-seq
MIRT1556924	hsa-miR-219-1-3p	CLIP-seq
MIRT1556925	hsa-miR-31	CLIP-seq
MIRT1556926	hsa-miR-3125	CLIP-seq
MIRT1556927	hsa-miR-3128	CLIP-seq
MIRT1556928	hsa-miR-3132	CLIP-seq
MIRT1556929	hsa-miR-326	CLIP-seq
MIRT1556930	hsa-miR-330-5p	CLIP-seq
MIRT1556931	hsa-miR-3916	CLIP-seq
MIRT1556932	hsa-miR-3928	CLIP-seq
MIRT1556933	hsa-miR-3940-5p	CLIP-seq
MIRT1556934	hsa-miR-4259	CLIP-seq
MIRT1556935	hsa-miR-4451	CLIP-seq
MIRT1556936	hsa-miR-4503	CLIP-seq
MIRT1556937	hsa-miR-4507	CLIP-seq
MIRT1556938	hsa-miR-4680-5p	CLIP-seq
MIRT1556939	hsa-miR-4720-3p	CLIP-seq
MIRT1556940	hsa-miR-4720-5p	CLIP-seq
MIRT1556941	hsa-miR-4731-5p	CLIP-seq
MIRT1556942	hsa-miR-4799-3p	CLIP-seq
MIRT1556943	hsa-miR-4804-3p	CLIP-seq
MIRT1556944	hsa-miR-544	CLIP-seq
MIRT1556945	hsa-miR-571	CLIP-seq
MIRT1556946	hsa-miR-629	CLIP-seq
MIRT1556947	hsa-miR-657	CLIP-seq
MIRT1556948	hsa-miR-877	CLIP-seq
MIRT2310539	hsa-miR-3126-3p	CLIP-seq
MIRT2310540	hsa-miR-3176	CLIP-seq
MIRT2310541	hsa-miR-3688-5p	CLIP-seq
MIRT2310542	hsa-miR-382	CLIP-seq
MIRT2310543	hsa-miR-3922-3p	CLIP-seq
MIRT2310544	hsa-miR-4474-3p	CLIP-seq
MIRT2310545	hsa-miR-885-3p	CLIP-seq
MIRT1287073	hsa-miR-103a	CLIP-seq
MIRT1287074	hsa-miR-107	CLIP-seq
MIRT2393373	hsa-miR-3065-3p	CLIP-seq
MIRT2393374	hsa-miR-4506	CLIP-seq
MIRT2393375	hsa-miR-450b-3p	CLIP-seq
MIRT1287085	hsa-miR-4651	CLIP-seq
MIRT2393376	hsa-miR-4787-5p	CLIP-seq
MIRT2393377	hsa-miR-602	CLIP-seq
MIRT1287091	hsa-miR-608	CLIP-seq
MIRT2393378	hsa-miR-769-3p	CLIP-seq
MIRT2393379	hsa-miR-873	CLIP-seq
MIRT1287073	hsa-miR-103a	CLIP-seq
MIRT1287074	hsa-miR-107	CLIP-seq
MIRT2606939	hsa-miR-1207-5p	CLIP-seq
MIRT2606940	hsa-miR-1264	CLIP-seq
MIRT2606941	hsa-miR-1301	CLIP-seq
MIRT2606942	hsa-miR-1909	CLIP-seq
MIRT1287076	hsa-miR-1914	CLIP-seq
MIRT2606943	hsa-miR-302a	CLIP-seq
MIRT2606944	hsa-miR-302b	CLIP-seq
MIRT2606945	hsa-miR-302c	CLIP-seq
MIRT2606946	hsa-miR-302d	CLIP-seq
MIRT2606947	hsa-miR-302e	CLIP-seq
MIRT1556925	hsa-miR-31	CLIP-seq
MIRT2606948	hsa-miR-342-3p	CLIP-seq
MIRT2606949	hsa-miR-3653	CLIP-seq
MIRT2606950	hsa-miR-3658	CLIP-seq
MIRT1287080	hsa-miR-3664-3p	CLIP-seq
MIRT2606951	hsa-miR-372	CLIP-seq
MIRT2606952	hsa-miR-373	CLIP-seq
MIRT1287082	hsa-miR-3944-5p	CLIP-seq
MIRT2606953	hsa-miR-4432	CLIP-seq
MIRT2606954	hsa-miR-4492	CLIP-seq
MIRT2606955	hsa-miR-4498	CLIP-seq
MIRT2606956	hsa-miR-4660	CLIP-seq
MIRT1287086	hsa-miR-4661-3p	CLIP-seq
MIRT1287088	hsa-miR-4677-3p	CLIP-seq
MIRT2606957	hsa-miR-4709-3p	CLIP-seq
MIRT2606958	hsa-miR-4736	CLIP-seq
MIRT2606959	hsa-miR-4763-3p	CLIP-seq
MIRT2606960	hsa-miR-5047	CLIP-seq
MIRT2606961	hsa-miR-513a-5p	CLIP-seq
MIRT2606962	hsa-miR-519a	CLIP-seq
MIRT2606963	hsa-miR-519b-3p	CLIP-seq
MIRT2606964	hsa-miR-519c-3p	CLIP-seq
MIRT2606965	hsa-miR-520a-3p	CLIP-seq
MIRT2606966	hsa-miR-520b	CLIP-seq
MIRT2606967	hsa-miR-520c-3p	CLIP-seq
MIRT2606968	hsa-miR-520d-3p	CLIP-seq
MIRT2606969	hsa-miR-520e	CLIP-seq
MIRT2606970	hsa-miR-548n	CLIP-seq
MIRT2606971	hsa-miR-548t	CLIP-seq
MIRT2606972	hsa-miR-561	CLIP-seq
MIRT2606973	hsa-miR-563	CLIP-seq
MIRT2606974	hsa-miR-762	CLIP-seq
MIRT1287093	hsa-miR-922	CLIP-seq
MIRT1287073	hsa-miR-103a	CLIP-seq
MIRT1287074	hsa-miR-107	CLIP-seq
MIRT2606939	hsa-miR-1207-5p	CLIP-seq
MIRT2606940	hsa-miR-1264	CLIP-seq
MIRT2606941	hsa-miR-1301	CLIP-seq
MIRT2606942	hsa-miR-1909	CLIP-seq
MIRT2689276	hsa-miR-1912	CLIP-seq
MIRT1287076	hsa-miR-1914	CLIP-seq
MIRT2606943	hsa-miR-302a	CLIP-seq
MIRT2606944	hsa-miR-302b	CLIP-seq
MIRT2606945	hsa-miR-302c	CLIP-seq
MIRT2606946	hsa-miR-302d	CLIP-seq
MIRT2606947	hsa-miR-302e	CLIP-seq
MIRT2606948	hsa-miR-342-3p	CLIP-seq
MIRT2606949	hsa-miR-3653	CLIP-seq
MIRT2606950	hsa-miR-3658	CLIP-seq
MIRT1287080	hsa-miR-3664-3p	CLIP-seq
MIRT2606951	hsa-miR-372	CLIP-seq
MIRT2606952	hsa-miR-373	CLIP-seq
MIRT1287082	hsa-miR-3944-5p	CLIP-seq
MIRT2606954	hsa-miR-4492	CLIP-seq
MIRT2606955	hsa-miR-4498	CLIP-seq
MIRT2606956	hsa-miR-4660	CLIP-seq
MIRT1287086	hsa-miR-4661-3p	CLIP-seq
MIRT1287088	hsa-miR-4677-3p	CLIP-seq
MIRT2606958	hsa-miR-4736	CLIP-seq
MIRT2606959	hsa-miR-4763-3p	CLIP-seq
MIRT2606960	hsa-miR-5047	CLIP-seq
MIRT2606961	hsa-miR-513a-5p	CLIP-seq
MIRT2606962	hsa-miR-519a	CLIP-seq
MIRT2606963	hsa-miR-519b-3p	CLIP-seq
MIRT2606964	hsa-miR-519c-3p	CLIP-seq
MIRT2606965	hsa-miR-520a-3p	CLIP-seq
MIRT2606966	hsa-miR-520b	CLIP-seq
MIRT2606967	hsa-miR-520c-3p	CLIP-seq
MIRT2606968	hsa-miR-520d-3p	CLIP-seq
MIRT2606969	hsa-miR-520e	CLIP-seq
MIRT2606973	hsa-miR-563	CLIP-seq
MIRT2606974	hsa-miR-762	CLIP-seq
MIRT1287093	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003924	Function	GTPase activity	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0003924	Function	GTPase activity	TAS	2674130
GO:0005515	Function	Protein binding	IPI	22106281, 22949657, 32296183, 33961781
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	IMP	19625648
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA	19625648
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005884	Component	Actin filament	IDA	19625648
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	NAS	27048830
GO:0005886	Component	Plasma membrane	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006935	Process	Chemotaxis	IBA
GO:0006935	Process	Chemotaxis	IEA
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IMP	21167572
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA
GO:0007165	Process	Signal transduction	IBA
GO:0007165	Process	Signal transduction	TAS	2674130
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0008283	Process	Cell population proliferation	IEA
GO:0008360	Process	Regulation of cell shape	IBA
GO:0010310	Process	Regulation of hydrogen peroxide metabolic process	TAS	16636067
GO:0010592	Process	Positive regulation of lamellipodium assembly	IBA
GO:0010592	Process	Positive regulation of lamellipodium assembly	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	IMP	19625648
GO:0010810	Process	Regulation of cell-substrate adhesion	IEA
GO:0010810	Process	Regulation of cell-substrate adhesion	IMP	21167572
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019887	Function	Protein kinase regulator activity	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0030027	Component	Lamellipodium	IDA	19625648
GO:0030031	Process	Cell projection assembly	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0030865	Process	Cortical cytoskeleton organization	IBA
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0042129	Process	Regulation of T cell proliferation	IEA
GO:0042554	Process	Superoxide anion generation	IDA	38355798
GO:0042995	Component	Cell projection	IBA
GO:0043020	Component	NADPH oxidase complex	IDA	38355798
GO:0043020	Component	NADPH oxidase complex	NAS	24598074
GO:0043131	Process	Erythrocyte enucleation	IEA
GO:0043304	Process	Regulation of mast cell degranulation	IEA
GO:0045453	Process	Bone resorption	IEA
GO:0045730	Process	Respiratory burst	NAS	27048830
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:0070662	Process	Mast cell proliferation	IEA
GO:0070668	Process	Positive regulation of mast cell proliferation	IEA
GO:0071593	Process	Lymphocyte aggregation	IMP	21167572
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	IEA
GO:0090023	Process	Positive regulation of neutrophil chemotaxis	IMP	19625648
GO:1902622	Process	Regulation of neutrophil migration	IBA
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 (EC 3.6.5.2) (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 (PubMed:30723080). In its active state, binds to a variety of effector proteins to regulate cellular responses, such as secretory proce
• PDB: 1DS6, 2W2T, 2W2V, 2W2X
• Family and domains:

  Pfam

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

• Tissue specificity: TISSUE SPECIFICITY: Hematopoietic specific.
• Sequence:

  MQAIKCVVVGDGAVGKTCLLISYTTNAFPGEYIPTVFDNYSANVMVDSKPVNLGLWDTAG
  QEDYDRLRPLSYPQTDVFLICFSLVSPASYENVRAKWFPEVRHHCPSTPIILVGTKLDLR
  DDKDTIEKLKEKKLAPITYPQGLALAKEIDSVKYLECSALTQRGLKTVFDEAIRAVLCPQ
  PTRQQKRACSLL

• Sequence length: 192

Pathways

KEGG:

MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Sphingolipid signaling pathway
Wnt signaling pathway
Axon guidance
VEGF signaling pathway
Focal adhesion
Adherens junction
Neutrophil extracellular trap formation
Natural killer cell mediated cytotoxicity
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
Leukocyte transendothelial migration
Regulation of actin cytoskeleton
Prion disease
Yersinia infection
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Colorectal cancer
Pancreatic cancer
Choline metabolism in cancer
Diabetic cardiomyopathy
Viral myocarditis
Fluid shear stress and atherosclerosis

Reactome:

GPVI-mediated activation cascade
ROS and RNS production in phagocytes
PIP3 activates AKT signaling
Rho GTPase cycle
Constitutive Signaling by Aberrant PI3K in Cancer
PCP/CE pathway
RHO GTPases Activate NADPH Oxidases
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Likely pathogenic; Pathogenic	rs1555908409, rs1927393826, rs1927078072	RCV001254813 RCV001254814 RCV001254815
Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Likely pathogenic; Pathogenic	rs1555908409, rs2145824966	RCV003224325 RCV001254816
Neutrophil immunodeficiency syndrome	Likely pathogenic; Pathogenic	rs1927110683, rs74315507, rs1555908409	RCV002918957 RCV000008011 RCV000541785

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Prostate cancer	Uncertain significance	rs193920791	RCV000149138
RAC2-related disorder	Likely benign; Benign	rs986205783, rs1601672062, rs369270392, rs79799102	RCV003943498 RCV003901415 RCV003946969 RCV003937930

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma	Associate	30720096
Arthritis Rheumatoid	Associate	17897462, 27626941, 32013628, 39980031
Atherosclerosis	Associate	34122426, 35937806
Bacterial Infections	Associate	38194689
Bone Marrow Diseases	Associate	31919089
Breast Neoplasms	Associate	23591873, 32044879, 35233733
Carcinogenesis	Stimulate	39596003
Carcinoma Hepatocellular	Associate	23728943
Carcinoma Renal Cell	Associate	28029655, 36854280, 39596003
Carcinoma Renal Cell	Stimulate	31364727
Carotid Stenosis	Associate	35773742
Celiac Disease	Associate	31591516
Cobblestone Lissencephaly	Associate	26016997
Crohn Disease	Associate	21900546
Death	Associate	35689244
Diabetic Nephropathies	Associate	34735495
Glioblastoma	Associate	19505917
Heart Failure	Associate	23927520
Immune System Diseases	Associate	32636302, 35689244, 38194689
Immunologic Deficiency Syndromes	Associate	10758162, 25512081, 38194689
Inflammation	Associate	39980031
Inflammatory Bowel Diseases	Associate	39273699
Intracranial Hypertension	Stimulate	18613964
Leukemia	Associate	19448413, 26016997
Leukemia Lymphocytic Chronic B Cell	Associate	34778802
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	26072332
Leukocyte adhesion deficiency type 1	Associate	38194689
Leukoencephalopathy Progressive Multifocal	Associate	35689244
Leukopenia	Associate	31919089
Lymphatic Metastasis	Stimulate	31364727
Lymphopenia	Associate	38194689
Meningioma	Associate	20406964
Mitochondrial Diseases	Associate	26016997
Multiple Sclerosis	Associate	37657941
Myocardial Infarction	Associate	35864510
Nasopharyngeal Carcinoma	Associate	38518731
Neoplasm Metastasis	Associate	28944885, 32044879, 39233667
Neoplasms	Stimulate	11568556
Neoplasms	Associate	23576480, 30720096, 35261178, 39596003
Neurologic Manifestations	Associate	35689244
Neutropenia	Associate	38194689
Neutropenia Severe Congenital Autosomal Recessive 3	Inhibit	10779444
Neutrophil Immunodeficiency Syndrome	Associate	10758162, 38194689
Osteitis Deformans	Associate	39233667
Osteoporosis	Associate	35937806
Osteosarcoma	Associate	37537613
Prostatic Neoplasms	Associate	31389670
Psoriasis	Associate	34122426
Renal Insufficiency Chronic	Associate	31721901
Respiratory Tract Infections	Associate	38194689
Seizures	Associate	38166692
Severe Combined Immunodeficiency	Associate	31919089, 38194689
Spinal Cord Injuries	Associate	26497545
Squamous Cell Carcinoma of Head and Neck	Associate	11568556
Triple Negative Breast Neoplasms	Associate	28594844
Vascular Diseases	Associate	20530044
Virus Diseases	Associate	38194689
X Linked Combined Immunodeficiency Diseases	Associate	31919089, 38194689