RAC3 (Rac family small GTPase 3)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
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 information provided by dbSNP.
4
Gene SNPs Other IDs Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
47
Gene SNPs Other IDs Associated diseases
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
71
Gene SNPs Other IDs Associated diseases
Show/Hide all (71)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
602050 9803 ENSG00000169750
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 192
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
37
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal brain morphology Pathogenic rs1568018697, rs1568018920 RCV000709612
RCV000709613
Intellectual disability Pathogenic rs1568018697, rs1568018920 RCV000709612
RCV000709613
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
RAC3-related disorder Likely pathogenic; Pathogenic rs546702613 RCV003335947
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Distal shortening of limbs Conflicting classifications of pathogenicity rs1379395211 RCV000577916
Show/Hide Text Mining Associations (29)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
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