RAC3 (Rac family small GTPase 3)

Gene

• Entrez ID: 5881
• Gene name: Rac family small GTPase 3
• Gene symbol: RAC3
• Synonyms (NCBI Gene): -
• Chromosome: 17
• Chromosome location: 17q25.3
• Summary: The protein encoded by this gene is a GTPase which belongs to the RAS superfamily of small GTP-binding proteins. Members of this superfamily appear to regulate a diverse array of cellular events, including the control of cell growth, cytoskeletal reorgani

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1064797229	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1379395211	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1568018697	C>T	Association, pathogenic	Missense variant, coding sequence variant
rs1568018920	A>T	Association, pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT038692	hsa-miR-30c-2-3p	CLASH	23622248
MIRT718787	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT718786	hsa-miR-4446-3p	HITS-CLIP	19536157
MIRT718785	hsa-miR-3155a	HITS-CLIP	19536157
MIRT718784	hsa-miR-3155b	HITS-CLIP	19536157
MIRT718783	hsa-miR-484	HITS-CLIP	19536157
MIRT718782	hsa-miR-4258	HITS-CLIP	19536157
MIRT718781	hsa-miR-3194-5p	HITS-CLIP	19536157
MIRT718780	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT718779	hsa-miR-6762-3p	HITS-CLIP	19536157
MIRT718778	hsa-miR-6829-5p	HITS-CLIP	19536157
MIRT346165	hsa-miR-3662	PAR-CLIP	20371350
MIRT346158	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT560904	hsa-miR-6815-5p	PAR-CLIP	20371350
MIRT560903	hsa-miR-6865-5p	PAR-CLIP	20371350
MIRT346163	hsa-miR-3163	PAR-CLIP	20371350
MIRT346166	hsa-miR-4434	PAR-CLIP	20371350
MIRT346167	hsa-miR-4516	PAR-CLIP	20371350
MIRT346169	hsa-miR-5703	PAR-CLIP	20371350
MIRT346171	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT560902	hsa-miR-6802-5p	PAR-CLIP	20371350
MIRT560901	hsa-miR-5701	PAR-CLIP	20371350
MIRT346168	hsa-miR-4531	PAR-CLIP	20371350
MIRT346160	hsa-miR-568	PAR-CLIP	20371350
MIRT718787	hsa-miR-4687-5p	HITS-CLIP	19536157
MIRT718786	hsa-miR-4446-3p	HITS-CLIP	19536157
MIRT718785	hsa-miR-3155a	HITS-CLIP	19536157
MIRT718784	hsa-miR-3155b	HITS-CLIP	19536157
MIRT718783	hsa-miR-484	HITS-CLIP	19536157
MIRT718782	hsa-miR-4258	HITS-CLIP	19536157
MIRT718781	hsa-miR-3194-5p	HITS-CLIP	19536157
MIRT718780	hsa-miR-7106-3p	HITS-CLIP	19536157
MIRT718779	hsa-miR-6762-3p	HITS-CLIP	19536157
MIRT718778	hsa-miR-6829-5p	HITS-CLIP	19536157
MIRT346165	hsa-miR-3662	PAR-CLIP	20371350
MIRT346158	hsa-miR-33a-3p	PAR-CLIP	20371350
MIRT560904	hsa-miR-6815-5p	PAR-CLIP	20371350
MIRT560903	hsa-miR-6865-5p	PAR-CLIP	20371350
MIRT346163	hsa-miR-3163	PAR-CLIP	20371350
MIRT346166	hsa-miR-4434	PAR-CLIP	20371350
MIRT346167	hsa-miR-4516	PAR-CLIP	20371350
MIRT346169	hsa-miR-5703	PAR-CLIP	20371350
MIRT346171	hsa-miR-6880-5p	PAR-CLIP	20371350
MIRT560902	hsa-miR-6802-5p	PAR-CLIP	20371350
MIRT560901	hsa-miR-5701	PAR-CLIP	20371350
MIRT346168	hsa-miR-4531	PAR-CLIP	20371350
MIRT346160	hsa-miR-568	PAR-CLIP	20371350

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	IDA	11956649
GO:0003924	Function	GTPase activity	IEA
GO:0003925	Function	G protein activity	IEA
GO:0005515	Function	Protein binding	IPI	11956649, 21217774, 32296183
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	NAS	27048830
GO:0005886	Component	Plasma membrane	TAS
GO:0007015	Process	Actin filament organization	IBA
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0008045	Process	Motor neuron axon guidance	IBA
GO:0008360	Process	Regulation of cell shape	IBA
GO:0010810	Process	Regulation of cell-substrate adhesion	IEA
GO:0012505	Component	Endomembrane system	IDA	11956649
GO:0012505	Component	Endomembrane system	IEA
GO:0014041	Process	Regulation of neuron maturation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IMP	29276006
GO:0016601	Process	Rac protein signal transduction	IBA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IBA
GO:0021894	Process	Cerebral cortex GABAergic interneuron development	IEA
GO:0022604	Process	Regulation of cell morphogenesis	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030031	Process	Cell projection assembly	IBA
GO:0030031	Process	Cell projection assembly	IDA	11956649
GO:0030036	Process	Actin cytoskeleton organization	IDA	11956649
GO:0030426	Component	Growth cone	IDA	16525025
GO:0030426	Component	Growth cone	IEA
GO:0030865	Process	Cortical cytoskeleton organization	IBA
GO:0031175	Process	Neuron projection development	IEA
GO:0031410	Component	Cytoplasmic vesicle	IBA
GO:0031941	Component	Filamentous actin	IDA	16525025
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA
GO:0033630	Process	Positive regulation of cell adhesion mediated by integrin	IDA	11756406
GO:0035556	Process	Intracellular signal transduction	TAS	9252344
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IDA	16525025
GO:0043020	Component	NADPH oxidase complex	NAS	24598074
GO:0043025	Component	Neuronal cell body	IDA	16525025
GO:0045730	Process	Respiratory burst	NAS	27048830
GO:0048306	Function	Calcium-dependent protein binding	IPI	11756406
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11756406
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0051932	Process	Synaptic transmission, GABAergic	IEA
GO:0060326	Process	Cell chemotaxis	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071944	Component	Cell periphery	IDA	11756406
GO:0098794	Component	Postsynapse	IEA
GO:0098974	Process	Postsynaptic actin cytoskeleton organization	IDA	21297961
GO:0098974	Process	Postsynaptic actin cytoskeleton organization	IMP	21297961
GO:0098978	Component	Glutamatergic synapse	IDA	21297961
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098978	Component	Glutamatergic synapse	IMP	21297961
GO:0150052	Process	Regulation of postsynapse assembly	IEA
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IDA	11756406
GO:1902622	Process	Regulation of neutrophil migration	IBA

Other IDs

• MIM: 602050
• HGNC: 9803
• e!Ensembl: ENSG00000169750

Protein

• UniProt ID: P60763
• Protein name: Ras-related C3 botulinum toxin substrate 3 (EC 3.6.5.2) (p21-Rac3)
• 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 cell spreading and the formation of ac
• PDB: 2C2H, 2G0N, 2IC5, 2OV2, 2QME, 6TM1
• Family and domains:

  Pfam

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

• Tissue specificity: TISSUE SPECIFICITY: Highest levels in brain, also detected in heart, placenta and pancreas.
• Sequence:

  MQAIKCVVVGDGAVGKTCLLISYTTNAFPGEYIPTVFDNYSANVMVDGKPVNLGLWDTAG
  QEDYDRLRPLSYPQTDVFLICFSLVSPASFENVRAKWYPEVRHHCPHTPILLVGTKLDLR
  DDKDTIERLRDKKLAPITYPQGLAMAREIGSVKYLECSALTQRGLKTVFDEAIRAVLCPP
  PVKKPGKKCTVF

• 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
Natural killer cell mediated cytotoxicity
B cell receptor signaling pathway
Fc epsilon RI signaling pathway
Regulation of actin cytoskeleton
Yersinia infection
Human cytomegalovirus infection
Human immunodeficiency virus 1 infection
Pathways in cancer
Colorectal cancer
Pancreatic cancer
Choline metabolism in cancer
Viral myocarditis
Fluid shear stress and atherosclerosis

Reactome:

Rho GTPase cycle
PCP/CE pathway

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal brain morphology	Pathogenic	rs1568018697, rs1568018920	RCV000709612 RCV000709613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1568018697, rs1568018920	RCV000709612 RCV000709613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	Pathogenic; Likely pathogenic	rs2510196039, rs1568018697, rs945470080, rs1064797229, rs1568018920, rs2043443828, rs2043431490, rs2043443851	RCV002306256 RCV003334432 RCV003482465 RCV000850261 RCV000850260 RCV000850259 RCV002305568 RCV001255626 RCV001261960	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
RAC3-related disorder	Likely pathogenic; Pathogenic	rs546702613	RCV003335947	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, BASAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal shortening of limbs	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIAL DYSMORPHISM-GLOBAL DEVELOPMENTAL DELAY-HYPOTONIA-POLYMICROGYRIA SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Adenocarcinoma of Lung	Associate	27402308	★☆☆☆☆ Found in Text Mining only
Anemia Diamond Blackfan	Associate	29745857	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Associate	35410298	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Associate	30293988	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	10618392, 11279242, 16280046, 23388133, 24684802, 28356423	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Inhibit	9252344	★☆☆☆☆ Found in Text Mining only
Calcinosis Cutis	Associate	16280046	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	17927986, 27402308, 28534368	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	28534368	★☆☆☆☆ Found in Text Mining only
Central Nervous System Vascular Malformations	Associate	30293988	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Associate	37386813	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Associate	24684802	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	38019838	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Associate	40049823	★☆☆☆☆ Found in Text Mining only
Hypoxia	Inhibit	22957814	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Associate	30293988	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	17927986	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	25854406, 28534368	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Associate	37401304	★☆☆☆☆ Found in Text Mining only
Micrognathism	Associate	40049823	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	10618392, 11747336, 22306268, 22957814, 23388133, 25854406, 28534368, 30293988, 34257551, 37386813, 37728806	★☆☆☆☆ Found in Text Mining only
Non Muscle Invasive Bladder Neoplasms	Associate	33465047	★☆☆☆☆ Found in Text Mining only
Partial agenesis of corpus callosum	Associate	40049823	★☆☆☆☆ Found in Text Mining only
Personality Disorders	Associate	23388133	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Associate	11747336	★☆☆☆☆ Found in Text Mining only
Robinow Syndrome	Associate	29276006	★☆☆☆☆ Found in Text Mining only
Scimitar Syndrome	Associate	40049823	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	32570217, 33888644, 34257551, 34329197, 36357874, 38073378, 38299148, 39376007	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Stimulate	37728806	★☆☆☆☆ Found in Text Mining only