Gene Gene information from NCBI Gene database.
Entrez ID 998
Gene name Cell division cycle 42
Gene symbol CDC42
Synonyms (NCBI Gene)
CDC42HsG25KTKS
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 simila
SNPs SNP information provided by dbSNP.
12
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
miRNA miRNA information provided by mirtarbase database.
615
miRTarBase ID miRNA Experiments Reference
MIRT000636 hsa-miR-224-5p Luciferase reporter assayqRT-PCRWestern blot 20023705
MIRT004037 hsa-miR-185-5p Luciferase reporter assayqRT-PCRWestern blot 21186079
MIRT004037 hsa-miR-185-5p Luciferase reporter assayqRT-PCRWestern blot 21186079
MIRT005485 hsa-miR-137 Luciferase reporter assayWestern blot 20473940
MIRT005964 hsa-miR-216a-5p ImmunohistochemistryLuciferase reporter assayWestern blot 21149267
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
PTTG1 Activation 22081074
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
129
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane ISS
GO:0000166 Function Nucleotide binding IEA
GO:0000322 Component Storage vacuole IEA
GO:0003015 Process Heart process IEA
GO:0003161 Process Cardiac conduction system development IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
116952 1736 ENSG00000070831
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 pr
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 , 7S0Y , 8I5F
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00071 Ras 5 178 Ras family Domain
Sequence
Sequence length 191
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  MAPK signaling pathway
Ras signaling pathway
Rap1 signaling pathway
Chemokine signaling pathway
Endocytosis
Axon guidance
VEGF signaling pathway
Focal adhesion
Adherens junction
Tight junction
T cell receptor signaling pathway
Fc gamma R-mediated phagocytosis
Leukocyte transendothelial migration
Neurotrophin signaling pathway
Regulation of actin cytoskeleton
GnRH signaling pathway
Non-alcoholic fatty liver disease
AGE-RAGE signaling pathway in diabetic complications
Bacterial invasion of epithelial cells
Epithelial cell signaling in Helicobacter pylori infection
Pathogenic Escherichia coli infection
Shigellosis
Salmonella infection
Yersinia infection
Human papillomavirus infection
Pathways in cancer
Viral carcinogenesis
Proteoglycans in cancer
Renal cell carcinoma
Pancreatic cancer
Lipid and atherosclerosis
  GPVI-mediated activation cascade
EGFR downregulation
Rho GTPase cycle
Regulation of actin dynamics for phagocytic cup formation
CD28 dependent Vav1 pathway
EPHB-mediated forward signaling
DCC mediated attractive signaling
VEGFA-VEGFR2 Pathway
Myogenesis
RHO GTPases activate KTN1
RHO GTPases activate IQGAPs
RHO GTPases activate PAKs
RHO GTPases Activate WASPs and WAVEs
RHO GTPases Activate Formins
MAPK6/MAPK4 signaling
Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
G beta:gamma signalling through CDC42
FCGR3A-mediated phagocytosis
Factors involved in megakaryocyte development and platelet production
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
81
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Abnormal facial shape Pathogenic; Likely pathogenic rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539 RCV001291420
RCV001291422
RCV001291421
RCV001291419
RCV001291424
RCV001291423
RCV001291425
RCV001291426
RCV001291162
Abnormality of blood and blood-forming tissues Pathogenic; Likely pathogenic rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539 RCV001291420
RCV001291422
RCV001291421
RCV001291419
RCV001291424
RCV001291423
RCV001291425
RCV001291426
RCV001291162
Abnormality of the immune system Pathogenic; Likely pathogenic rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539 RCV001291420
RCV001291422
RCV001291421
RCV001291419
RCV001291424
RCV001291423
RCV001291425
RCV001291426
RCV001291162
CDC42-associated inflammatory disease Pathogenic rs2522255954 RCV005417362
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs1349667730 RCV005871240
Clear cell carcinoma of kidney Likely benign rs370073568 RCV005926116
Colon adenocarcinoma Benign rs1349667730 RCV005871239
Malignant tumor of esophagus Likely benign rs370073568 RCV005926115
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Aarskog Syndrome Associate 12771149, 21356349
Adams Oliver syndrome Associate 27693507, 36059114
Adenocarcinoma of Lung Associate 32733636
Adenoma Stimulate 37365287
Adenomatous Polyposis Coli Associate 17145773
Anophthalmos with limb anomalies Associate 21565291
Arthritis Rheumatoid Associate 27498552
Asthenozoospermia Associate 23174138
Asthma Associate 28479334, 36194662
Atrial Fibrillation Associate 35003319