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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 Show/Hide all (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 Show/Hide all (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 Show/Hide all (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 Pathway Reactome Pathway
MAPK signaling pathway GPVI-mediated activation cascade
Ras signaling pathway EGFR downregulation
Rap1 signaling pathway Rho GTPase cycle
Chemokine signaling pathway Regulation of actin dynamics for phagocytic cup formation
Endocytosis CD28 dependent Vav1 pathway
Axon guidance EPHB-mediated forward signaling
VEGF signaling pathway DCC mediated attractive signaling
Focal adhesion VEGFA-VEGFR2 Pathway
Adherens junction Myogenesis
Tight junction RHO GTPases activate KTN1
T cell receptor signaling pathway RHO GTPases activate IQGAPs
Fc gamma R-mediated phagocytosis RHO GTPases activate PAKs
Leukocyte transendothelial migration RHO GTPases Activate WASPs and WAVEs
Neurotrophin signaling pathway RHO GTPases Activate Formins
Regulation of actin cytoskeleton MAPK6/MAPK4 signaling
GnRH signaling pathway Gene and protein expression by JAK-STAT signaling after Interleukin-12 stimulation
Non-alcoholic fatty liver disease G beta:gamma signalling through CDC42
AGE-RAGE signaling pathway in diabetic complications FCGR3A-mediated phagocytosis
Bacterial invasion of epithelial cells Factors involved in megakaryocyte development and platelet production
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  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Show/Hide Causal Diseases (11)
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Abnormal facial shape Pathogenic; Likely pathogenic rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539 RCV001291420
RCV001291422
RCV001291421
RCV001291419
RCV001291424
View all (4 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormality of blood and blood-forming tissues Pathogenic; Likely pathogenic rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539 RCV001291420
RCV001291422
RCV001291421
RCV001291419
RCV001291424
View all (4 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormality of the immune system Pathogenic; Likely pathogenic rs797044916, rs797044870, rs864309721, rs1064795845, rs1553196100, rs1553196096, rs1553196101, rs1553196134, rs1553196539 RCV001291420
RCV001291422
RCV001291421
RCV001291419
RCV001291424
View all (4 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CDC42-associated inflammatory disease Pathogenic rs2522255954 RCV005417362
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (17)
Phenotype Name Clinical Significance Source Reference Evidence Score
Adrenocortical carcinoma, hereditary Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA — CTD 16316942
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (306)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Aarskog syndrome Aarskog Syndrome BEFREE 11181572
★★★★★
★☆☆☆☆
Found in Text Mining only
Adams-Oliver syndrome 1 Adams-Oliver Syndrome BEFREE 21820096
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of colon Adenocarcinoma Of Colon BEFREE 21943101
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of large intestine Colorectal Cancer BEFREE 18575765
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of pancreas Pancreatic adenocarcinoma BEFREE 23921961
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 28759015
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Cancer Adrenal Cancer CTD_human_DG 24747643
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Neoplasms Adrenal neoplasia CTD_human_DG 24747643
★★★★★
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 26911374
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic carcinoma Anaplastic Carcinoma CTD_human_DG 16316942
★★★★★
★☆☆☆☆
Found in Text Mining only