Gene: CDC42

Alternate names for this Gene: CDC42Hs|G25K|TKS

Gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.12

Description of this Gene: cell division cycle 42

Type of Gene: protein-coding

rs797044870 in CDC42 gene and Dysmorphic features PMID 12195014 2002 The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.

PMID 11864373 2002 The evolutionary history of effectors downstream of Cdc42 and Rac.

PMID 10898977 2000 Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability.

PMID 12478284 2002 Rho GTPases in cell biology.

PMID 14561717 2003 Structural basis of the Rho GTPase signaling.

PMID 19700661 2009 Kainic acid-induced F-344 rat model of mesial temporal lobe epilepsy: gene expression and canonical pathways.

PMID 11149925 2001 Differential localization of Rho GTPases in live cells: regulation by hypervariable regions and RhoGDI binding.

PMID 8103286 1993 Clinical and molecular analyses of deletion 3p25-pter syndrome.

PMID 11025683 2000 Function of Rho family proteins in actin dynamics during phagocytosis and engulfment.

PMID 24059268 2013 Dual lipidation of the brain-specific Cdc42 isoform regulates its functional properties.

PMID 17918734 2007 Monosomy 1p36 deletion syndrome.

PMID 26386261 2015 Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

PMID 21423166 2011 Local, persistent activation of Rho GTPases during plasticity of single dendritic spines.

PMID 20633244 2010 Cdc42 and vesicle trafficking in polarized cells.

PMID 15884002 2005 Rho GTPases, dendritic structure, and mental retardation.

PMID 12915473 2003 Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

PMID 15269155 2004 Overexpression of RhoA, Rac1, and Cdc42 GTPases is associated with progression in testicular cancer.

PMID 21515363 2011 Cdc42 in oncogenic transformation, invasion, and tumorigenesis.

PMID 7473653 1995 Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

PMID 17970806 2007 Involvement of E-cadherin, beta-catenin, Cdc42 and CXCR4 in the progression and prognosis of cutaneous melanoma.

PMID 12687501 2003 Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

PMID 19092927 2008 Neural palmitoyl-proteomics reveals dynamic synaptic palmitoylation.

PMID 22266952 2012 Expression analysis of Cdc42 in lung cancer and modulation of its expression by curcumin in lung cancer cell lines.

PMID 18511961 2008 Molecular basis of dendritic arborization.

PMID 23382385 2013 Characterization of a Cdc42 protein inhibitor and its use as a molecular probe.

PMID 16949823 2006 Rho GTPases and actin dynamics in membrane protrusions and vesicle trafficking.

PMID 20878268 2010 RHO GTPase signaling for axon extension: is prenylation important?

PMID 17540168 2007 GEFs and GAPs: critical elements in the control of small G proteins.

PMID 18245432 2008 Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

PMID 17050694 2006 Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly.

rs10917151 in CDC42 gene and Endometriosis PMID 23472165 2013 Genome-wide association study link novel loci to endometriosis.

rs10917152 in CDC42 gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs797044870 in CDC42 gene and Multiple congenital anomalies PMID 14561717 2003 Structural basis of the Rho GTPase signaling.

PMID 11864373 2002 The evolutionary history of effectors downstream of Cdc42 and Rac.

PMID 12195014 2002 The novel Rho-GTPase activating gene MEGAP/ srGAP3 has a putative role in severe mental retardation.

PMID 15269155 2004 Overexpression of RhoA, Rac1, and Cdc42 GTPases is associated with progression in testicular cancer.

PMID 17540168 2007 GEFs and GAPs: critical elements in the control of small G proteins.

PMID 12478284 2002 Rho GTPases in cell biology.

PMID 15884002 2005 Rho GTPases, dendritic structure, and mental retardation.

PMID 11149925 2001 Differential localization of Rho GTPases in live cells: regulation by hypervariable regions and RhoGDI binding.

PMID 12915473 2003 Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

PMID 17918734 2007 Monosomy 1p36 deletion syndrome.

PMID 16949823 2006 Rho GTPases and actin dynamics in membrane protrusions and vesicle trafficking.

PMID 11025683 2000 Function of Rho family proteins in actin dynamics during phagocytosis and engulfment.

PMID 17050694 2006 Cdc42 deficiency causes Sonic hedgehog-independent holoprosencephaly.

PMID 10898977 2000 Cdc42 is required for PIP(2)-induced actin polymerization and early development but not for cell viability.

PMID 22266952 2012 Expression analysis of Cdc42 in lung cancer and modulation of its expression by curcumin in lung cancer cell lines.

PMID 23382385 2013 Characterization of a Cdc42 protein inhibitor and its use as a molecular probe.

PMID 17970806 2007 Involvement of E-cadherin, beta-catenin, Cdc42 and CXCR4 in the progression and prognosis of cutaneous melanoma.

PMID 19700661 2009 Kainic acid-induced F-344 rat model of mesial temporal lobe epilepsy: gene expression and canonical pathways.

PMID 21423166 2011 Local, persistent activation of Rho GTPases during plasticity of single dendritic spines.

PMID 12687501 2003 Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome.

PMID 7473653 1995 Chromosome 1p terminal deletion: report of new findings and confirmation of two characteristic phenotypes.

PMID 24059268 2013 Dual lipidation of the brain-specific Cdc42 isoform regulates its functional properties.

PMID 26386261 2015 Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

PMID 21515363 2011 Cdc42 in oncogenic transformation, invasion, and tumorigenesis.

PMID 8103286 1993 Clinical and molecular analyses of deletion 3p25-pter syndrome.

PMID 18245432 2008 Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

PMID 18511961 2008 Molecular basis of dendritic arborization.

PMID 20633244 2010 Cdc42 and vesicle trafficking in polarized cells.

PMID 20878268 2010 RHO GTPase signaling for axon extension: is prenylation important?

PMID 19092927 2008 Neural palmitoyl-proteomics reveals dynamic synaptic palmitoylation.

rs10917151 in CDC42 gene and Plexiform leiomyoma PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

PMID 31249589 2019 A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.

rs864309721 in CDC42 gene and TAKENOUCHI-KOSAKI SYNDROME PMID 26708094 2016 Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia.

PMID 26386261 2015 Macrothrombocytopenia and developmental delay with a de novo CDC42 mutation: Yet another locus for thrombocytopenia and developmental delay.

rs10917151 in CDC42 gene and Uterine Fibroids PMID 30194396 2018 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits.

PMID 31249589 2019 A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids.