Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5881
Gene name Gene Name - the full gene name approved by the HGNC.	Rac family small GTPase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RAC3
Synonyms (NCBI Gene) Gene synonyms aliases	-
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(4)

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

Show/Hide all(47)

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

Show/Hide all(44)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0003924	Function	GTPase activity	IDA	11956649
GO:0005515	Function	Protein binding	IPI	11956649, 21217774, 32296183
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IBA	21873635
GO:0005886	Component	Plasma membrane	IBA	21873635
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IBA	21873635
GO:0007015	Process	Actin filament organization	IBA	21873635
GO:0007163	Process	Establishment or maintenance of cell polarity	IBA	21873635
GO:0007264	Process	Small GTPase mediated signal transduction	IEA
GO:0008360	Process	Regulation of cell shape	IBA	21873635
GO:0012505	Component	Endomembrane system	IDA	11956649
GO:0014041	Process	Regulation of neuron maturation	IEA
GO:0016055	Process	Wnt signaling pathway	IMP	29276006
GO:0019901	Function	Protein kinase binding	IBA	21873635
GO:0021894	Process	Cerebral cortex GABAergic interneuron development	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030031	Process	Cell projection assembly	IDA	11956649
GO:0030036	Process	Actin cytoskeleton organization	IDA	11956649
GO:0030426	Component	Growth cone	IDA	16525025
GO:0030865	Process	Cortical cytoskeleton organization	IBA	21873635
GO:0031175	Process	Neuron projection development	IEA
GO:0031410	Component	Cytoplasmic vesicle	IBA	21873635
GO:0031941	Component	Filamentous actin	IDA	16525025
GO:0032956	Process	Regulation of actin cytoskeleton organization	IBA	21873635
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	IBA	21873635
GO:0043005	Component	Neuron projection	IBA	21873635
GO:0043005	Component	Neuron projection	IDA	16525025
GO:0043025	Component	Neuronal cell body	IDA	16525025
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0045202	Component	Synapse	IEA
GO:0048306	Function	Calcium-dependent protein binding	IPI	11756406
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11756406
GO:0048873	Process	Homeostasis of number of cells within a tissue	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051932	Process	Synaptic transmission, GABAergic	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071944	Component	Cell periphery	IDA	11756406
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IDA	11756406

MIM	HGNC	e!Ensembl
602050	9803	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

Interactions

View interactions

	KEGG		Reactome
	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		Rho GTPase cycle PCP/CE pathway

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)	30293988

Show/Hide Text Mining Associations (29)

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

RAC3 (Rac family small GTPase 3)