Gene: CDC42

Basic information

Tag Content
Uniprot ID P60953; P21181; P25763; Q7L8R5; Q9UDI2;
Entrez ID 998
Genbank protein ID AAM21110.1; AAM21109.1; AAA52592.1; CAB57325.1; AAH18266.1; AAH02711.1; AAH03682.1; AAT70721.1; AAA52494.1; CAB57326.1;
Genbank nucleotide ID NM_001791.3; NM_044472.2; NM_001039802.1;
Ensembl protein ID ENSP00000499457; ENSP00000383118; ENSP00000341072; ENSP00000499612; ENSP00000314458; ENSP00000497733;
Ensembl nucleotide ID ENSG00000070831
Gene name Cell division control protein 42 homolog
Gene symbol CDC42
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Homology search
Reference
Functional description Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. Regulates the bipolar attachment of spindle microtubules to kinetochores before chromosome congression in metaphase (PubMed:15642749). Regulates cell migration (PubMed:17038317). In neurons, plays a role in the extension and maintenance of the formation of filopodia, thin and actin-rich surface projections (PubMed:14978216). Required for DOCK10-mediated spine formation in Purkinje cells and hippocampal neurons. Facilitates filopodia formation upon DOCK11-activation (By similarity). Upon activation by CaMKII, modulates dendritic spine structural plasticity by relaying CaMKII transient activation to synapse-specific, long-term signaling (By similarity). Also plays a role in phagocytosis through organization of the F-actin cytoskeleton associated with forming phagocytic cups (PubMed:26465210).
Sequence
MQTIKCVVVG DGAVGKTCLL ISYTTNKFPS EYVPTVFDNY AVTVMIGGEP YTLGLFDTAG 60
QEDYDRLRPL SYPQTDVFLV CFSVVSPSSF ENVKEKWVPE ITHHCPKTPF LLVGTQIDLR 120
DDPSTIEKLA KNKQKPITPE TAEKLARDLK AVKYVECSAL TQKGLKNVFD EAILAALEPP 180
EPKKSRRCVL L 191

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

  

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database


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Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologCDC42403934P60952Canis lupus familiarisPredictionMore>>
1:1 orthologCDC42102188638A0A452EIX9Capra hircusPredictionMore>>
1:1 orthologCDC42998P60953Homo sapiensPredictionMore>>
1:1 orthologCdc4212540P60766CPO,CLPMus musculusPublicationMore>>
1:1 orthologCDC42456609A0A2I3TL10Pan troglodytesPredictionMore>>
1:1 orthologCDC42780428F2Z5W2Sus scrofaPredictionMore>>
1:1 orthologCdc4264465A0A0G2JSM8Rattus norvegicusPredictionMore>>
1:1 orthologcdc42336839Q6PFU4Danio rerioPredictionMore>>

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0003924 GTPase activityTAS
GO:0003924 GTPase activityIDA
GO:0003924 GTPase activityIBA
GO:0005515 protein bindingIPI
GO:0005525 GTP bindingIDA
GO:0005525 GTP bindingIBA
GO:0019901 protein kinase bindingIDA
GO:0019901 protein kinase bindingIPI
GO:0019901 protein kinase bindingIBA
GO:0030742 GTP-dependent protein bindingIEA
GO:0031435 mitogen-activated protein kinase kinase kinase bindingIEA
GO:0031996 thioesterase bindingIPI
GO:0032427 GBD domain bindingIPI
GO:0034191 apolipoprotein A-I receptor bindingIPI
GO:0042802 identical protein bindingIPI
GO:0061630 ubiquitin protein ligase activityIDA

GO:Biological Process

GO ID GO Term Evidence
GO:0002040 sprouting angiogenesisIEA
GO:0003161 cardiac conduction system developmentIEA
GO:0006897 endocytosisIBA
GO:0006911 phagocytosis, engulfmentIMP
GO:0007015 actin filament organizationIBA
GO:0007015 actin filament organizationIMP
GO:0007030 Golgi organizationISS
GO:0007088 regulation of mitotic nuclear divisionIEA
GO:0007097 nuclear migrationIEA
GO:0007163 establishment or maintenance of cell polarityTAS
GO:0007163 establishment or maintenance of cell polarityIBA
GO:0007229 integrin-mediated signaling pathwayIMP
GO:0007266 Rho protein signal transductionIBA
GO:0007596 blood coagulationTAS
GO:0008360 regulation of cell shapeIBA
GO:0010591 regulation of lamellipodium assemblyIGI
GO:0010592 positive regulation of lamellipodium assemblyIMP
GO:0016477 cell migrationIBA
GO:0016567 protein ubiquitinationIEA
GO:0021762 substantia nigra developmentHEP
GO:0030031 cell projection assemblyIBA
GO:0030036 actin cytoskeleton organizationIDA
GO:0030036 actin cytoskeleton organizationIBA
GO:0030225 macrophage differentiationTAS
GO:0030307 positive regulation of cell growthIMP
GO:0030865 cortical cytoskeleton organizationIBA
GO:0031274 positive regulation of pseudopodium assemblyIDA
GO:0031295 T cell costimulationTAS
GO:0031333 negative regulation of protein-containing complex assemblyIPI
GO:0032467 positive regulation of cytokinesisIMP
GO:0032488 Cdc42 protein signal transductionIBA
GO:0032956 regulation of actin cytoskeleton organizationIBA
GO:0034329 cell junction assemblyIMP
GO:0034332 adherens junction organizationIEA
GO:0034613 cellular protein localizationIEA
GO:0035722 interleukin-12-mediated signaling pathwayTAS
GO:0036336 dendritic cell migrationIEA
GO:0038096 Fc-gamma receptor signaling pathway involved in phagocytosisTAS
GO:0038189 neuropilin signaling pathwayIMP
GO:0039694 viral RNA genome replicationIMP
GO:0042059 negative regulation of epidermal growth factor receptor signaling pathwayTAS
GO:0043393 regulation of protein bindingIEA
GO:0043525 positive regulation of neuron apoptotic processIEA
GO:0043552 positive regulation of phosphatidylinositol 3-kinase activityIEA
GO:0045198 establishment of epithelial cell apical/basal polarityIMP
GO:0045740 positive regulation of DNA replicationIEA
GO:0046330 positive regulation of JNK cascadeIEA
GO:0046847 filopodium assemblyIEA
GO:0048010 vascular endothelial growth factor receptor signaling pathwayTAS
GO:0048013 ephrin receptor signaling pathwayTAS
GO:0048549 positive regulation of pinocytosisISS
GO:0048664 neuron fate determinationIEA
GO:0051056 regulation of small GTPase mediated signal transductionTAS
GO:0051149 positive regulation of muscle cell differentiationTAS
GO:0051489 regulation of filopodium assemblyIDA
GO:0051491 positive regulation of filopodium assemblyISS
GO:0051491 positive regulation of filopodium assemblyIMP
GO:0051492 regulation of stress fiber assemblyIGI
GO:0051496 positive regulation of stress fiber assemblyIMP
GO:0051683 establishment of Golgi localizationISS
GO:0051835 positive regulation of synapse structural plasticityIEA
GO:0051988 regulation of attachment of spindle microtubules to kinetochoreIMP
GO:0060047 heart contractionIEA
GO:0060071 Wnt signaling pathway, planar cell polarity pathwayNAS
GO:0060501 positive regulation of epithelial cell proliferation involved in lung morphogenesisIEA
GO:0060661 submandibular salivary gland formationIEA
GO:0060997 dendritic spine morphogenesisISS
GO:0071346 cellular response to interferon-gammaIEA
GO:0072384 organelle transport along microtubuleISS
GO:0090135 actin filament branchingIEA
GO:0090316 positive regulation of intracellular protein transportIEA
GO:0099159 regulation of modification of postsynaptic structureIEA
GO:0099563 modification of synaptic structureIBA
GO:1900026 positive regulation of substrate adhesion-dependent cell spreadingIDA
GO:2000251 positive regulation of actin cytoskeleton reorganizationIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0000139 Golgi membraneISS
GO:0000322 storage vacuoleIEA
GO:0005623 cellIEA
GO:0005737 cytoplasmIDA
GO:0005737 cytoplasmIBA
GO:0005789 endoplasmic reticulum membraneTAS
GO:0005829 cytosolTAS
GO:0005856 cytoskeletonIBA
GO:0005886 plasma membraneIDA
GO:0005886 plasma membraneIBA
GO:0005886 plasma membraneTAS
GO:0005911 cell-cell junctionIEA
GO:0005925 focal adhesionHDA
GO:0005938 cell cortexIBA
GO:0016020 membraneIDA
GO:0016020 membraneHDA
GO:0017119 Golgi transport complexIMP
GO:0030141 secretory granuleIEA
GO:0030175 filopodiumIDA
GO:0030496 midbodyIDA
GO:0031256 leading edge membraneIEA
GO:0031410 cytoplasmic vesicleIBA
GO:0032991 protein-containing complexIDA
GO:0036464 cytoplasmic ribonucleoprotein granuleIDA
GO:0042995 cell projectionIBA
GO:0043005 neuron projectionIDA
GO:0043005 neuron projectionIBA
GO:0043025 neuronal cell bodyIDA
GO:0043197 dendritic spineIBA
GO:0043197 dendritic spineIDA
GO:0043231 intracellular membrane-bounded organelleIBA
GO:0045177 apical part of cellIEA
GO:0045335 phagocytic vesicleIEA
GO:0051233 spindle midzoneIDA
GO:0070062 extracellular exosomeHDA
GO:0072686 mitotic spindleIDA
GO:0098685 Schaffer collateral - CA1 synapseIEA
GO:0005813 centrosomeIDA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109582 HemostasisTAS
R-HSA-114604 GPVI-mediated activation cascadeTAS
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1266738 Developmental BiologyIEA
R-HSA-1280215 Cytokine Signaling in Immune systemTAS
R-HSA-1280218 Adaptive Immune SystemTAS
R-HSA-162582 Signal TransductionIEA
R-HSA-162582 Signal TransductionTAS
R-HSA-168249 Innate Immune SystemTAS
R-HSA-168249 Innate Immune SystemIEA
R-HSA-168256 Immune SystemTAS
R-HSA-168256 Immune SystemIEA
R-HSA-177929 Signaling by EGFRTAS
R-HSA-182971 EGFR downregulationTAS
R-HSA-194138 Signaling by VEGFTAS
R-HSA-194315 Signaling by Rho GTPasesIEA
R-HSA-194315 Signaling by Rho GTPasesTAS
R-HSA-194840 Rho GTPase cycleTAS
R-HSA-195258 RHO GTPase EffectorsIEA
R-HSA-195258 RHO GTPase EffectorsTAS
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosisTAS
R-HSA-2029480 Fcgamma receptor (FCGR) dependent phagocytosisIEA
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formationTAS
R-HSA-2029482 Regulation of actin dynamics for phagocytic cup formationIEA
R-HSA-2682334 EPH-Ephrin signalingIEA
R-HSA-2682334 EPH-Ephrin signalingTAS
R-HSA-372790 Signaling by GPCRTAS
R-HSA-373752 Netrin-1 signalingTAS
R-HSA-376176 Signaling by ROBO receptorsIEA
R-HSA-388396 GPCR downstream signallingTAS
R-HSA-388841 Costimulation by the CD28 familyTAS
R-HSA-389356 CD28 co-stimulationTAS
R-HSA-389359 CD28 dependent Vav1 pathwayTAS
R-HSA-3928662 EPHB-mediated forward signalingIEA
R-HSA-3928662 EPHB-mediated forward signalingTAS
R-HSA-397795 G-protein beta:gamma signallingTAS
R-HSA-418885 DCC mediated attractive signalingTAS
R-HSA-422475 Axon guidanceTAS
R-HSA-422475 Axon guidanceIEA
R-HSA-428543 Inactivation of CDC42 and RAC1IEA
R-HSA-4420097 VEGFA-VEGFR2 PathwayTAS
R-HSA-447115 Interleukin-12 family signalingTAS
R-HSA-449147 Signaling by InterleukinsTAS
R-HSA-525793 MyogenesisTAS
R-HSA-525793 MyogenesisIEA
R-HSA-5625970 RHO GTPases activate KTN1TAS
R-HSA-5626467 RHO GTPases activate IQGAPsTAS
R-HSA-5627123 RHO GTPases activate PAKsTAS
R-HSA-5663213 RHO GTPases Activate WASPs and WAVEsTAS
R-HSA-5663213 RHO GTPases Activate WASPs and WAVEsIEA
R-HSA-5663220 RHO GTPases Activate ForminsIEA
R-HSA-5663220 RHO GTPases Activate ForminsTAS
R-HSA-5683057 MAPK family signaling cascadesTAS
R-HSA-5687128 MAPK6/MAPK4 signalingTAS
R-HSA-76002 Platelet activation, signaling and aggregationTAS
R-HSA-8950505 Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulationTAS
R-HSA-8964616 G beta:gamma signalling through CDC42TAS
R-HSA-9006934 Signaling by Receptor Tyrosine KinasesTAS
R-HSA-9020591 Interleukin-12 signalingTAS
R-HSA-983231 Factors involved in megakaryocyte development and platelet productionTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0025 Alternative splicing
KW-1003 Cell membrane
KW-0966 Cell projection
KW-0963 Cytoplasm
KW-0206 Cytoskeleton
KW-0221 Differentiation
KW-0903 Direct protein sequencing
KW-0225 Disease mutation
KW-0325 Glycoprotein
KW-0342 GTP-binding
KW-0378 Hydrolase
KW-0449 Lipoprotein
KW-0472 Membrane
KW-0991 Mental retardation
KW-0488 Methylation
KW-0524 Neurogenesis
KW-0547 Nucleotide-binding
KW-0597 Phosphoprotein
KW-0636 Prenylation
KW-1185 Reference proteome

Interpro

InterPro ID InterPro Term
IPR037874 Cdc42
IPR027417 P-loop_NTPase
IPR005225 Small_GTP-bd_dom
IPR001806 Small_GTPase
IPR003578 Small_GTPase_Rho

PROSITE

PROSITE ID PROSITE Term
PS51420 RHO

Pfam

Pfam ID Pfam Term
PF00071 Ras

Protein-protein interaction

Protein-miRNA interaction