CDC42 (cell division cycle 42)

Gene

• Entrez ID: 998
• Gene name: Cell division cycle 42
• Gene symbol: CDC42
• Synonyms: CDC42Hs, G25K, TKS
• Chromosome: 1
• Chromosome location: 1p36.12
• Summary: The protein encoded by this gene is a small GTPase of the Rho-subfamily, which regulates signaling pathways that control diverse cellular functions including cell morphology, migration, endocytosis and cell cycle progression. This protein is highly similar to Saccharomyces cerevisiae Cdc 42, and is able to complement the yeast cdc42-1 mutant. The product of oncogene Dbl was reported to specifically catalyze the dissociation of GDP from this protein. This protein could regulate actin polymerization through its direct binding to Neural Wiskott-Aldrich syndrome protein (N-WASP), which subsequently activates Arp2/3 complex. Alternative splicing of this gene results in multiple transcript variants. Pseudogenes of this gene have been identified on chromosomes 3, 4, 5, 7, 8 and 20. [provided by RefSeq, Apr 2013]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs797044870	A>G	Pathogenic	Missense variant, coding sequence variant
rs797044916	A>G	Pathogenic	Missense variant, coding sequence variant
rs864309721	A>G	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057518022	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795845	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1553196096	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1553196100	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1553196101	T>C	Pathogenic	Coding sequence variant, missense variant
rs1553196119	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1553196134	C>T	Pathogenic	Coding sequence variant, missense variant
rs1553196539	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs1570024112	T>C	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000327	hsa-miR-133a-3p	Luciferase reporter assay, qRT-PCR, Western blot	25152372
MIRT000636	hsa-miR-224-5p	Luciferase reporter assay, qRT-PCR, Western blot	20023705
MIRT000636	hsa-miR-224-5p	qRT-PCR	24817781
MIRT000636	hsa-miR-224-5p	Microarray, qRT-PCR, Western blot	22989374
MIRT004037	hsa-miR-185-5p	Luciferase reporter assay, qRT-PCR, Western blot	21186079
MIRT005485	hsa-miR-137	Luciferase reporter assay, Western blot, Reporter assay;Other	20473940
MIRT005485	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	21221794
MIRT005485	hsa-miR-137	Luciferase reporter assay	23178712
MIRT005485	hsa-miR-137	Luciferase reporter assay, qRT-PCR, Western blot	24465609
MIRT005964	hsa-miR-216a-5p	Immunohistochemistry, Luciferase reporter assay, Western blot	21149267
MIRT005965	hsa-miR-330-3p	Immunohistochemistry, Luciferase reporter assay, Western blot	21149267
MIRT005965	hsa-miR-330-3p	Luciferase reporter assay, qRT-PCR, Western blot	23337504
MIRT005966	hsa-miR-608	Immunohistochemistry, Luciferase reporter assay, Western blot	21149267
MIRT006488	hsa-miR-29b-3p	Luciferase reporter assay, Western blot	19079265
MIRT006488	hsa-miR-29b-3p	qRT-PCR, Western blot	20507733
MIRT006489	hsa-miR-29c-3p	Luciferase reporter assay, Western blot	19079265
MIRT006489	hsa-miR-29c-3p	qRT-PCR, Western blot	20507733
MIRT006490	hsa-miR-29a-3p	Luciferase reporter assay, Western blot	19079265
MIRT006490	hsa-miR-29a-3p	qRT-PCR, Western blot	20507733
MIRT006490	hsa-miR-29a-3p	Luciferase reporter assay	24085298
MIRT006995	hsa-miR-195-5p	Luciferase reporter assay	22802111
MIRT006995	hsa-miR-195-5p	Luciferase reporter assay, qRT-PCR, Western blot	24025765
MIRT019885	hsa-miR-375	qRT-PCR;Microarray	20584986
MIRT023726	hsa-miR-1-3p	Proteomics	18668040
MIRT038837	hsa-miR-93-3p	CLASH	23622248
MIRT041813	hsa-miR-484	CLASH	23622248
MIRT044369	hsa-miR-106b-5p	CLASH	23622248
MIRT053177	hsa-miR-133b	Immunoblot, Luciferase reporter assay, Microarray	22179829
MIRT053177	hsa-miR-133b	Luciferase reporter assay, qRT-PCR, Western blot	25152372
MIRT054636	hsa-miR-204-5p	ChIP-seq, Immunofluorescence, Immunohistochemistry, Luciferase reporter assay, qRT-PCR, Western blot	24613926
MIRT133821	hsa-miR-20a-3p	HITS-CLIP	23313552
MIRT704842	hsa-miR-1207-3p	HITS-CLIP	23313552
MIRT704843	hsa-miR-3914	HITS-CLIP	23313552
MIRT704844	hsa-miR-3591-3p	HITS-CLIP	23313552
MIRT704845	hsa-miR-21-3p	HITS-CLIP	23313552
MIRT734260	hsa-miR-107	Luciferase reporter assay, qRT-PCR, Western blot	28393193
MIRT734762	hsa-miR-30c-5p	Luciferase reporter assay, qRT-PCR, Western blot	25781190

Transcription factors

Transcription factor	Regulation	Reference
PTTG1	Activation	22081074

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	ISS
GO:0000322	Component	Storage vacuole	IEA
GO:0002040	Process	Sprouting angiogenesis	IEA
GO:0003161	Process	Cardiac conduction system development	IEA
GO:0003924	Function	GTPase activity	IBA	21873635
GO:0003924	Function	GTPase activity	IDA	19787194, 27917469
GO:0003924	Function	GTPase activity	TAS	11035016
GO:0005515	Function	Protein binding	IPI	7493928, 7512369, 9082982, 9418861, 9422512, 9660763, 10051605, 10587647, 10816584, 10934474, 11035016, 11260256, 11807099, 12093730, 12606577, 12745076, 12879077, 14676191, 15194684, 15361624, 15728724, 16189514, 16293614, 16443932, 16968699, 17145773, 18809683, 19171758, 19596003
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005525	Function	GTP binding	IDA	8625410, 15601624, 23620790
GO:0005737	Component	Cytoplasm	IDA	11260256
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005813	Component	Centrosome	IDA	20873783
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	11260256
GO:0005886	Component	Plasma membrane	TAS
GO:0005911	Component	Cell-cell junction	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006897	Process	Endocytosis	IBA	21873635
GO:0006911	Process	Phagocytosis, engulfment	IMP	26465210
GO:0007015	Process	Actin filament organization	IMP	26465210
GO:0007030	Process	Golgi organization	ISS
GO:0007088	Process	Regulation of mitotic nuclear division	IEA
GO:0007097	Process	Nuclear migration	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	TAS	11260256
GO:0007229	Process	Integrin-mediated signaling pathway	IMP	26051942
GO:0007596	Process	Blood coagulation	TAS
GO:0010591	Process	Regulation of lamellipodium assembly	IGI	8625410
GO:0010592	Process	Positive regulation of lamellipodium assembly	IMP	8625410
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IDA	11807099
GO:0016020	Component	Membrane	IMP	22801373
GO:0016477	Process	Cell migration	IBA	21873635
GO:0016567	Process	Protein ubiquitination	IEA
GO:0017119	Component	Golgi transport complex	IMP	16380373
GO:0019901	Function	Protein kinase binding	IDA	19039103
GO:0019901	Function	Protein kinase binding	IPI	8625410, 20873783, 21048939
GO:0021762	Process	Substantia nigra development	HEP	22926577
GO:0030031	Process	Cell projection assembly	IBA	21873635
GO:0030036	Process	Actin cytoskeleton organization	IDA	11035016
GO:0030141	Component	Secretory granule	IEA
GO:0030175	Component	Filopodium	IDA	11035016
GO:0030225	Process	Macrophage differentiation	TAS	11260256
GO:0030307	Process	Positive regulation of cell growth	IMP	21435037
GO:0030496	Component	Midbody	IDA	15642749
GO:0030742	Function	GTP-dependent protein binding	IEA
GO:0031256	Component	Leading edge membrane	IEA
GO:0031274	Process	Positive regulation of pseudopodium assembly	IDA	11035016
GO:0031295	Process	T cell costimulation	TAS
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IPI	11584266
GO:0031435	Function	Mitogen-activated protein kinase kinase kinase binding	IEA
GO:0031996	Function	Thioesterase binding	IPI	12612085
GO:0032427	Function	GBD domain binding	IPI	8625410, 10724160
GO:0032467	Process	Positive regulation of cytokinesis	IMP	15642749
GO:0032488	Process	Cdc42 protein signal transduction	IBA	21873635
GO:0032991	Component	Protein-containing complex	IDA	20873783
GO:0034191	Function	Apolipoprotein A-I receptor binding	IPI	16443932
GO:0034329	Process	Cell junction assembly	IMP	22891260
GO:0034332	Process	Adherens junction organization	IEA
GO:0034613	Process	Cellular protein localization	IEA
GO:0035722	Process	Interleukin-12-mediated signaling pathway	TAS
GO:0036336	Process	Dendritic cell migration	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA	15121898
GO:0038096	Process	Fc-gamma receptor signaling pathway involved in phagocytosis	TAS
GO:0038189	Process	Neuropilin signaling pathway	IMP	26051942
GO:0039694	Process	Viral RNA genome replication	IMP	19376974
GO:0042059	Process	Negative regulation of epidermal growth factor receptor signaling pathway	TAS
GO:0042802	Function	Identical protein binding	IPI	9748241
GO:0043005	Component	Neuron projection	IDA	21048939
GO:0043025	Component	Neuronal cell body	IDA	21048939
GO:0043197	Component	Dendritic spine	IBA	21873635
GO:0043197	Component	Dendritic spine	IDA	24352656
GO:0043393	Process	Regulation of protein binding	IEA
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0043552	Process	Positive regulation of phosphatidylinositol 3-kinase activity	IEA
GO:0045177	Component	Apical part of cell	IEA
GO:0045198	Process	Establishment of epithelial cell apical/basal polarity	IMP	22891260
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045740	Process	Positive regulation of DNA replication	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046847	Process	Filopodium assembly	IEA
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	TAS
GO:0048013	Process	Ephrin receptor signaling pathway	TAS
GO:0048549	Process	Positive regulation of pinocytosis	ISS
GO:0048664	Process	Neuron fate determination	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0051149	Process	Positive regulation of muscle cell differentiation	TAS
GO:0051233	Component	Spindle midzone	IDA	15642749
GO:0051489	Process	Regulation of filopodium assembly	IDA	14978216
GO:0051491	Process	Positive regulation of filopodium assembly	IMP	26051942
GO:0051491	Process	Positive regulation of filopodium assembly	ISS
GO:0051492	Process	Regulation of stress fiber assembly	IGI	8625410
GO:0051496	Process	Positive regulation of stress fiber assembly	IMP	8625410, 26051942
GO:0051683	Process	Establishment of Golgi localization	ISS
GO:0051835	Process	Positive regulation of synapse structural plasticity	IEA
GO:0051988	Process	Regulation of attachment of spindle microtubules to kinetochore	IMP	15642749
GO:0060047	Process	Heart contraction	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	NAS	24431302
GO:0060501	Process	Positive regulation of epithelial cell proliferation involved in lung morphogenesis	IEA
GO:0060661	Process	Submandibular salivary gland formation	IEA
GO:0060997	Process	Dendritic spine morphogenesis	ISS
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	21435037
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
GO:0071346	Process	Cellular response to interferon-gamma	IEA
GO:0072384	Process	Organelle transport along microtubule	ISS
GO:0072686	Component	Mitotic spindle	IDA	15642749
GO:0090135	Process	Actin filament branching	IEA
GO:0090316	Process	Positive regulation of intracellular protein transport	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:0099159	Process	Regulation of modification of postsynaptic structure	IEA
GO:0099563	Process	Modification of synaptic structure	IBA	21873635
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	IDA	11807099
GO:2000251	Process	Positive regulation of actin cytoskeleton reorganization	IMP	26051942

Other IDs

• MIM: 116952
• HGNC: 1736
• e!Ensembl: ENSG00000070831

Protein

• UniProt ID: P60953
• Protein name: Cell division control protein 42 homolog (EC 3.6.5.2) (G25K GTP-binding protein)
• Protein function: 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).
• PDB: 1A4R, 1AJE, 1AM4, 1AN0, 1CEE, 1CF4, 1DOA, 1E0A, 1EES, 1GRN, 1GZS, 1KI1, 1KZ7, 1KZG, 1NF3, 2ASE, 2DFK, 2KB0, 2NGR, 2ODB, 2QRZ, 2WM9, 2WMN, 2WMO, 3GCG, 3QBV, 3VHL, 4DID, 4ITR, 4JS0, 4YC7, 4YDH, 5CJP, 5FI1, 5HZK, 5UPK, 5UPL, 6AJ4, 6AJL, 6SIU, 6SUP, 6TKY, 6TKZ
• Family and domains:

  Pfam

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

• Sequence:

  MQTIKCVVVGDGAVGKTCLLISYTTNKFPSEYVPTVFDNYAVTVMIGGEPYTLGLFDTAG
  QEDYDRLRPLSYPQTDVFLVCFSVVSPSSFENVKEKWVPEITHHCPKTPFLLVGTQIDLR
  DDPSTIEKLAKNKQKPITPETAEKLARDLKAVKYVECSALTQKGLKNVFDEAILAALEPP
  EPKKSRRCVLL

• Sequence length: 191