Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
998
Gene name Gene Name - the full gene name approved by the HGNC.
Cell division cycle 42
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CDC42
Synonyms (NCBI Gene) Gene synonyms aliases
CDC42Hs, G25K, TKS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
TKS
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT000636 hsa-miR-224-5p Luciferase reporter assay, qRT-PCR, Western blot 20023705
MIRT004037 hsa-miR-185-5p Luciferase reporter assay, qRT-PCR, Western blot 21186079
MIRT004037 hsa-miR-185-5p Luciferase reporter assay, qRT-PCR, Western blot 21186079
MIRT005485 hsa-miR-137 Luciferase reporter assay, Western blot 20473940
MIRT005964 hsa-miR-216a-5p Immunohistochemistry, Luciferase reporter assay, Western blot 21149267
Transcription factors
Transcription factor Regulation Reference
PTTG1 Activation 22081074
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
116952 1736 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 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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Uterine Fibroids Uterine Fibroids GWAS
Endometriosis Endometriosis GWAS
Cervical Cancer Cervical Cancer Our screens identified 10 miRNAs that enhance fitness of HeLa cells and have been reported to be up-regulated in cervical cancer (Table2). GWAS, CBGDA
Associations from Text Mining
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