CDC42 Chromosome 1
Cell division cycle 42
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What This Gene Does
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]
Gene Info
Gene Group
Rho family GTPases
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000070831
Associated Conditions (13)
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
CDC42-related disorder
Neurodevelopmental abnormality
Postnatal growth retardation
Abnormality of blood and blood-forming tissues
Abnormality of the immune system
Abnormal facial shape
See cases
Noonan-like syndrome
CDC42-associated inflammatory disease
Familial hemophagocytic lymphohistiocytosis
Inborn genetic diseases
Neurodevelopmental disorder
Key Variants
RS1645575465
Conflicting classifications of pathogenicity
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, CDC42-related disorder, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Health Risk
RS1057518022
Likely pathogenic
Health Risk
RS1064795845
Likely pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Neurodevelopmental abnormality, Postnatal growth retardation
Health Risk
RS1553196100
Likely pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Abnormality of the immune system, Postnatal growth retardation
Health Risk
RS1553196119
Likely pathogenic
Health Risk
RS1570024112
Likely pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Health Risk
RS1645575312
Likely pathogenic
Health Risk
RS1645663483
Likely pathogenic
Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
Health Risk
RS2124005167
Likely pathogenic
Health Risk
RS2124053783
Likely pathogenic
See cases, See cases
Health Risk
RS2522255949
Likely pathogenic
CDC42-related disorder, CDC42-related disorder
Health Risk
RS1553196096
Pathogenic
Postnatal growth retardation, Neurodevelopmental abnormality, Abnormality of the immune system
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1645575465 | Health Risk | Conflicting classifications of pathogenicity | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, CDC42-related disorder, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome |
| RS1057518022 | Health Risk | Likely pathogenic | — |
| RS1064795845 | Health Risk | Likely pathogenic | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Neurodevelopmental abnormality, Postnatal growth retardation |
| RS1553196100 | Health Risk | Likely pathogenic | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Abnormality of the immune system, Postnatal growth retardation |
| RS1553196119 | Health Risk | Likely pathogenic | — |
| RS1570024112 | Health Risk | Likely pathogenic | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome |
| RS1645575312 | Health Risk | Likely pathogenic | — |
| RS1645663483 | Health Risk | Likely pathogenic | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome |
| RS2124005167 | Health Risk | Likely pathogenic | — |
| RS2124053783 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2522255949 | Health Risk | Likely pathogenic | CDC42-related disorder, CDC42-related disorder |
| RS1553196096 | Health Risk | Pathogenic | Postnatal growth retardation, Neurodevelopmental abnormality, Abnormality of the immune system |
| RS1553196101 | Health Risk | Pathogenic | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Neurodevelopmental abnormality, Postnatal growth retardation |
| RS1553196134 | Health Risk | Pathogenic | Neurodevelopmental abnormality, Postnatal growth retardation, Abnormal facial shape |
| RS1553196539 | Health Risk | Pathogenic | Noonan-like syndrome, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Neurodevelopmental abnormality |
| RS2124053934 | Health Risk | Pathogenic | — |
| RS2522255954 | Health Risk | Pathogenic | CDC42-associated inflammatory disease, Familial hemophagocytic lymphohistiocytosis, CDC42-associated inflammatory disease |
| RS797044870 | Health Risk | Pathogenic | Inborn genetic diseases, Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Abnormality of the immune system |
| RS797044916 | Health Risk | Pathogenic | Inborn genetic diseases, Neurodevelopmental disorder, Postnatal growth retardation |
| RS864309721 | Health Risk | Pathogenic | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome, Inborn genetic diseases, Abnormal facial shape |