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 reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants. [provided by Ref... See more...

Aliases for RAC3 Gene

Aliases for RAC3 Gene

  • Rac Family Small GTPase 3 2 3 5
  • Ras-Related C3 Botulinum Toxin Substrate 3 (Rho Family, Small GTP Binding Protein Rac3) 2 3
  • Ras-Related C3 Botulinum Toxin Substrate 3 3 4
  • P21-Rac3 3 4
  • Rho Family, Small GTP Binding Protein Rac3 3
  • EC 3.6.5.2 4
  • RAC3 5

External Ids for RAC3 Gene

Previous GeneCards Identifiers for RAC3 Gene

  • GC17P079412
  • GC17P9J0031
  • GC17P080525
  • GC17P077582
  • GC17P079989
  • GC17P075389

Summaries for RAC3 Gene

Entrez Gene Summary for RAC3 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 reorganization, and the activation of protein kinases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]

GeneCards Summary for RAC3 Gene

RAC3 (Rac Family Small GTPase 3) is a Protein Coding gene. Diseases associated with RAC3 include Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies and Deafness, Autosomal Recessive 104. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and NGF Pathway. Gene Ontology (GO) annotations related to this gene include GTP binding and calcium-dependent protein binding. An important paralog of this gene is RAC1.

UniProtKB/Swiss-Prot Summary for RAC3 Gene

  • 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 actin-based protusions including lamellipodia and membrane ruffles. Promotes cell adhesion and spreading on fibrinogen in a CIB1 and alpha-IIb/beta3 integrin-mediated manner.

Tocris Summary for RAC3 Gene

  • Small G proteins (small GTPases) are homologous to Galpha proteins and are often referred to as the Ras proto-oncogene superfamily. Small GTPases regulate a wide variety of processes in the cell, including growth, differentiation, movement and lipid vesicle transport.

Gene Wiki entry for RAC3 Gene

Additional gene information for RAC3 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAC3 Gene

Genomics for RAC3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for RAC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J082030 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 -0.1 -115 3.3 BRCA1 HNRNPL CTCF ZBTB33 ZNF629 IKZF1 ZNF692 JUND FOXA1 LARP7 RAC3 DCXR CENPX GCGR LRRC45
GH17J081056 Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 5.6 -974.2 -974197 3.4 PRDM10 ZNF512 LEF1 IKZF1 TARDBP JUND ZIC2 PKNOX1 REST ZNF740 RAC3 BAIAP2 SLC26A11 NONHSAG022975.2 PVALEF lnc-TMEM105-1
GH17J082095 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 2.8 +69.8 69798 12.8 ZNF221 SP1 HNRNPL CREB1 GATAD2A CTCF PRDM10 ZNF629 TFE3 IKZF1 FASN piR-33494 CCDC57 TBCD CEP131 ENSG00000262877 FAAP100 DUS1L HGS GPS1
GH17J082125 Promoter/Enhancer 0.8 Ensembl ENCODE dbSUPER 7.9 +95.7 95666 3.2 GLIS1 CCDC57 RAC3 ACTG1 lnc-CCDC57-2 piR-43104-026 FASN
GH17J082036 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.4 +5.6 5557 2.3 SP1 HNRNPL CTCF REST ZNF629 LEF1 NFKBIZ ZNF692 POLR2A BACH1 DCXR DCXR-DT ENSG00000279372 lnc-RFNG-3 piR-38429-015 CEP131 TBCD HGS GPS1 CCDC57
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAC3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAC3

Top Transcription factor binding sites by QIAGEN in the RAC3 gene promoter:
  • AP-1
  • p300
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • STAT3
  • STAT5A

Genomic Locations for RAC3 Gene

Genomic Locations for RAC3 Gene
chr17:82,031,678-82,034,204
(GRCh38/hg38)
Size:
2,527 bases
Orientation:
Plus strand
chr17:79,989,500-79,992,080
(GRCh37/hg19)
Size:
2,581 bases
Orientation:
Plus strand

Genomic View for RAC3 Gene

Genes around RAC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAC3 Gene

Proteins for RAC3 Gene

  • Protein details for RAC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P60763-RAC3_HUMAN
    Recommended name:
    Ras-related C3 botulinum toxin substrate 3
    Protein Accession:
    P60763
    Secondary Accessions:
    • O14658
    • Q5U0M8

    Protein attributes for RAC3 Gene

    Size:
    192 amino acids
    Molecular mass:
    21379 Da
    Quaternary structure:
    • Interacts with the GEF protein DOCK7, which promotes the exchange between GDP and GTP, and therefore activates it (PubMed:16982419). Interacts with C1D (PubMed:9852280). Interacts (via C-terminal region) with CIB1; the interaction induces their association with the cytoskeleton upon alpha-IIb/beta3 integrin-mediated adhesion (PubMed:11756406). Interacts with NRBP (PubMed:11956649).

    Three dimensional structures from OCA and Proteopedia for RAC3 Gene

neXtProt entry for RAC3 Gene

Post-translational modifications for RAC3 Gene

  • (Microbial infection) Glycosylated at Tyr-32 by Photorhabdus asymbiotica toxin PAU_02230. Mono-O-GlcNAcylation by PAU_02230 inhibits downstream signaling by an impaired interaction with diverse regulator and effector proteins of Rac and leads to actin disassembly.
  • Glycosylation at Tyr32
  • Ubiquitination at Lys153
  • Modification sites at PhosphoSitePlus

Other Protein References for RAC3 Gene

No data available for DME Specific Peptides for RAC3 Gene

Domains & Families for RAC3 Gene

Gene Families for RAC3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for RAC3 Gene

InterPro:
Blocks:
  • Ras small GTPase, Ras type
ProtoNet:

Suggested Antigen Peptide Sequences for RAC3 Gene

GenScript: Design optimal peptide antigens:
  • p21-Rac3 (RAC3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P60763

UniProtKB/Swiss-Prot:

RAC3_HUMAN :
  • Belongs to the small GTPase superfamily. Rho family.
Family:
  • Belongs to the small GTPase superfamily. Rho family.
genes like me logo Genes that share domains with RAC3: view

Function for RAC3 Gene

Molecular function for RAC3 Gene

UniProtKB/Swiss-Prot 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 actin-based protusions including lamellipodia and membrane ruffles. Promotes cell adhesion and spreading on fibrinogen in a CIB1 and alpha-IIb/beta3 integrin-mediated manner.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=GTP + H2O = GDP + H(+) + phosphate; Xref=Rhea:RHEA:19669, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:37565, ChEBI:CHEBI:43474, ChEBI:CHEBI:58189; EC=3.6.5.2; Evidence={ECO:0000269|PubMed:16982419};.
UniProtKB/Swiss-Prot Induction:
Expression down-regulated in quiescent fibroblasts and clearly induced by serum stimulation.
UniProtKB/Swiss-Prot EnzymeRegulation:
Regulated by guanine nucleotide exchange factors (GEFs) which promote the exchange of bound GDP for free GTP, GTPase activating proteins (GAPs) which increase the GTP hydrolysis activity, and GDP dissociation inhibitors which inhibit the dissociation of the nucleotide from the GTPase. Regulated by the GEF protein DOCK7.
GENATLAS Biochemistry:
ras-related C3 botulinism toxin substrate 3,Ras-like protein 2,member of the Rho family of GTPase,specifically expressed in hemopoietic lineage,involved in the production of superoxide in neutrophils,putative regulator of mitogen-induced cytoskeletal changes,essential for membrane ruffling and C-jun aminoterminal kinase JNK,key downstream target in Ras signaling putatively mediated by EPS58 and SSH3BP1

Enzyme Numbers (IUBMB) for RAC3 Gene

Phenotypes From GWAS Catalog for RAC3 Gene

Gene Ontology (GO) - Molecular Function for RAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA,IDA 11956649
GO:0005515 protein binding IPI 11956649
GO:0005525 GTP binding IEA,IBA 21873635
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with RAC3: view
genes like me logo Genes that share phenotypes with RAC3: view

Animal Models for RAC3 Gene

MGI Knock Outs for RAC3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAC3

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for RAC3 Gene

Localization for RAC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAC3 Gene

Cytoplasm. Endomembrane system. Cell projection, lamellipodium. Cytoplasm, perinuclear region. Cell membrane. Cytoplasm, cytoskeleton. Note=Membrane-associated when activated. Colocalizes with NRBP to endomembranes and at the cell periphery in lamellipodia. Colocalized with CIB1 in the perinuclear area and at the cell periphery.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAC3 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
cytosol 5
extracellular 4
nucleus 3
mitochondrion 2
endosome 2
lysosome 2
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for RAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0005938 cell cortex IBA 21873635
genes like me logo Genes that share ontologies with RAC3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for RAC3 Gene

Pathways & Interactions for RAC3 Gene

PathCards logo

SuperPathways for RAC3 Gene

SuperPathway Contained pathways
1 GPCR Pathway
.73
.62
.59
.58
2 fMLP Pathway
.44
.43
.39
.31
3 Integrin Pathway
.67
.67
.56
.38
4 TCR Signaling (Qiagen)
.68
.68
.54
.49
5 Focal Adhesion
genes like me logo Genes that share pathways with RAC3: view

Pathways by source for RAC3 Gene

1 R&D Systems pathway for RAC3 Gene
50 Qiagen pathways for RAC3 Gene
  • Actin Nucleation and Branching
  • Actin Nucleation by ARP-WASP Complex
  • Actin-Based Motility by Rho Family GTPases
  • Activation of PKC through GPCR
  • Agrin Interactions at Neuromuscular Junction
2 Cell Signaling Technology pathways for RAC3 Gene

SIGNOR curated interactions for RAC3 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for RAC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007015 actin filament organization IBA 21873635
GO:0007163 establishment or maintenance of cell polarity IBA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007266 Rho protein signal transduction IBA --
GO:0008360 regulation of cell shape IBA 21873635
genes like me logo Genes that share ontologies with RAC3: view

Drugs & Compounds for RAC3 Gene

(3) Drugs for RAC3 Gene - From: HMDB and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
NSC 23766 Pharma Selective inhibitor of Rac1-GEF interaction., Selective inhibitor of Rac1-GEF interaction; antioncogenic 0
QS 11 Pharma Wnt synergistic agonist, ARFGAP1 inhibitor; modulates Wnt/beta-catenin signaling 0

(3) Additional Compounds for RAC3 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Rac1 Inhibitor F56, control peptide
1315378-77-8
Rac1 Inhibitor W56
1095179-01-3
SecinH3
853625-60-2

(5) Tocris Compounds for RAC3 Gene

Compound Action Cas Number
NSC 23766 Selective inhibitor of Rac1-GEF interaction; antioncogenic 1177865-17-6
QS 11 ARFGAP1 inhibitor; modulates Wnt/beta-catenin signaling 944328-88-5
Rac1 Inhibitor F56, control peptide Control peptide version of Rac1 Inhibitor W56 (Cat. No. 2221) 1315378-77-8
Rac1 Inhibitor W56 Selective inhibitor of Rac1-GEF interaction 1095179-01-3
SecinH3 Sec7-specific GEF inhibitor (cytohesins) 853625-60-2
genes like me logo Genes that share compounds with RAC3: view

Transcripts for RAC3 Gene

mRNA/cDNA for RAC3 Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for RAC3

Alternative Splicing Database (ASD) splice patterns (SP) for RAC3 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
SP1: - - - -
SP2: - - - -
SP3: - -
SP4: -
SP5:

Relevant External Links for RAC3 Gene

GeneLoc Exon Structure for
RAC3

Expression for RAC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAC3 Gene

mRNA differential expression in normal tissues according to GTEx for RAC3 Gene

This gene is overexpressed in Brain - Cerebellum (x4.9) and Brain - Cerebellar Hemisphere (x4.6).

Protein differential expression in normal tissues from HIPED for RAC3 Gene

This gene is overexpressed in Brain (26.7), Fetal Brain (20.7), and Frontal cortex (14.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for RAC3 Gene



Protein tissue co-expression partners for RAC3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAC3

SOURCE GeneReport for Unigene cluster for RAC3 Gene:

Hs.45002

mRNA Expression by UniProt/SwissProt for RAC3 Gene:

P60763-RAC3_HUMAN
Tissue specificity: Highest levels in brain, also detected in heart, placenta and pancreas.

Evidence on tissue expression from TISSUES for RAC3 Gene

  • Nervous system(4.6)
  • Skin(2.6)
  • Blood(2.5)
  • Kidney(2.3)
  • Heart(2.2)
  • Bone marrow(2.2)
  • Intestine(2.1)
genes like me logo Genes that share expression patterns with RAC3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for RAC3 Gene

Orthologs for RAC3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RAC3 Gene

Organism Taxonomy Gene Similarity Type Details
Dog
(Canis familiaris)
Mammalia RAC3 31
  • 97 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 92 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia RAC3 30 31
  • 91.49 (n)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia RAC3 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Rac3 30 17 31
  • 89.41 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Rac3 30
  • 89.26 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 70 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves RAC3 30 31
  • 82.12 (n)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 99 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia rac3 30
  • 79.69 (n)
Zebrafish
(Danio rerio)
Actinopterygii rac3b 31
  • 96 (a)
ManyToMany
rac3a 30
  • 79.17 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Rac1 31 32
  • 89 (a)
ManyToMany
Rac2 31 32
  • 86 (a)
ManyToMany
Mtl 32
  • 68 (a)
RhoL 32
  • 54 (a)
Worm
(Caenorhabditis elegans)
Secernentea ced-10 30 32
  • 69.3 (n)
mig-2 31 32
  • 63 (a)
ManyToMany
F22E12.2 32
  • 47 (a)
Y32F6B.3 32
  • 43 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons RAC2 30
  • 58.87 (n)
Rice
(Oryza sativa)
Liliopsida Os02g0312600 30
  • 64.55 (n)
Corn
(Zea mays)
Liliopsida Zm.289 30
Species where no ortholog for RAC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for RAC3 Gene

ENSEMBL:
Gene Tree for RAC3 (if available)
TreeFam:
Gene Tree for RAC3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAC3: view image

Paralogs for RAC3 Gene

(39) SIMAP similar genes for RAC3 Gene using alignment to 3 proteins:

  • RAC3_HUMAN
  • J3KSC4_HUMAN
  • J3QLK0_HUMAN
genes like me logo Genes that share paralogs with RAC3: view

Variants for RAC3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAC3 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
871529 Likely Pathogenic: not provided 82,032,790(+) G/A MISSENSE_VARIANT
rs1064797229 Uncertain Significance: NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; not provided 82,032,787(+) G/A MISSENSE_VARIANT
rs1379395211 Likely Pathogenic: Distal shortening of limbs; NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES 82,032,779(+) C/G MISSENSE_VARIANT
rs1568018697 Pathogenic, Association: Intellectual disability; Abnormality of brain morphology; NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES 82,032,437(+) C/T MISSENSE_VARIANT
rs1568018920 Pathogenic, Association: Intellectual disability; Abnormality of brain morphology; NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES 82,032,785(+) A/T MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RAC3 Gene

Structural Variations from Database of Genomic Variants (DGV) for RAC3 Gene

Variant ID Type Subtype PubMed ID
dgv5800n54 CNV loss 21841781
esv21913 CNV gain+loss 19812545
nsv1071415 CNV deletion 25765185
nsv1118776 CNV deletion 24896259
nsv428351 CNV gain 18775914
nsv457975 CNV loss 19166990
nsv470620 CNV loss 18288195
nsv576183 CNV loss 21841781
nsv576186 CNV loss 21841781
nsv952392 CNV deletion 24416366

Variation tolerance for RAC3 Gene

Residual Variation Intolerance Score: 23.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.26; 5.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAC3 Gene

Human Gene Mutation Database (HGMD)
RAC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAC3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAC3 Gene

Disorders for RAC3 Gene

MalaCards: The human disease database

(8) MalaCards diseases for RAC3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RAC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAC3_HUMAN
  • Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies (NEDBAF) [MIM:618577]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, poor language, seizures, dysmorphic features, and thin corpus callosum. {ECO:0000269 PubMed:29276006, ECO:0000269 PubMed:30293988}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with RAC3: view

No data available for Genatlas for RAC3 Gene

Publications for RAC3 Gene

  1. The small GTPase Rac3 interacts with the integrin-binding protein CIB and promotes integrin alpha(IIb)beta(3)-mediated adhesion and spreading. (PMID: 11756406) Haataja L … Heisterkamp N (The Journal of biological chemistry 2002) 3 4 23
  2. Interaction of the small GTPase Rac3 with NRBP, a protein with a kinase-homology domain. (PMID: 11956649) De Langhe S … Heisterkamp N (International journal of molecular medicine 2002) 3 4 23
  3. Characterization of RAC3, a novel member of the Rho family. (PMID: 9252344) Haataja L … Heisterkamp N (The Journal of biological chemistry 1997) 3 4 23
  4. De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome. (PMID: 30293988) Costain G … Meyn MS (Genetics in medicine : official journal of the American College of Medical Genetics 2019) 3 4
  5. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome. (PMID: 29276006) White JJ … Carvalho CMB (American journal of human genetics 2018) 3 4

Products for RAC3 Gene

Sources for RAC3 Gene