CDC42
cell division cycle 42
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. [provided by RefSeq, Apr 2013]
Known Variants98 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs182593003 | 1:22,384,581 | C/T | regulatory region variant | — |
| rs2473321 | 1:22,390,577 | T/C | coding sequence variant | — |
| rs56319427 | 1:22,396,998 | T/C | regulatory region variant | — |
| rs12038474 | 1:22,403,357 | G/A | intron variant | — |
| rs774271691 | 1:22,404,977 | G/A | — | likely benign |
| rs375924804 | 1:22,405,001 | C/T | — | likely benign |
| rs775718828 | 1:22,405,022 | A/G | — | likely benign |
| rs1645575229 | 1:22,405,031 | G/C | — | likely benign |
| rs1064795845 | 1:22,405,033 | T/C | missense variant | pathogenic |
| rs1645575312 | 1:22,405,038 | T/A | — | likely pathogenic |
| rs797044916 | 1:22,405,039 | A/G | missense variant | pathogenic |
| rs2124005167 | 1:22,405,041 | A/C | — | likely pathogenic |
| rs1645575465 | 1:22,405,072 | C/A | — | conflicting classifications of pathogenicity |
| rs776809649 | 1:22,405,073 | G/A | — | likely benign |
| rs765830067 | 1:22,405,083 | A/G | — | likely benign |
| rs766811312 | 1:22,405,091 | T/C | — | likely benign |
| rs75284716 | 1:22,405,202 | T/A | — | benign |
| rs557013417 | 1:22,405,305 | C/G | — | benign |
| rs2501282 | 1:22,408,106 | G/A | — | benign |
| rs367815612 | 1:22,408,195 | T/A | — | likely benign |
| rs370073568 | 1:22,408,200 | T/A | — | likely benign |
| rs17837976 | 1:22,408,212 | T/C | — | benign |
| rs1057518022 | 1:22,408,233 | G/A | missense variant | pathogenic |
| rs2522184429 | 1:22,408,243 | T/C | — | uncertain significance |
| rs1570024112 | 1:22,408,246 | T/C | — | likely pathogenic |
| rs759963199 | 1:22,408,295 | C/T | — | likely benign |
| rs2056976 | 1:22,408,465 | C/T | — | benign |
| rs749439872 | 1:22,412,927 | T/C | — | likely benign |
| rs771080774 | 1:22,412,928 | C/A | — | likely benign |
| rs2522220905 | 1:22,412,937 | G/C | — | uncertain significance |
| rs864309721 | 1:22,412,944 | A/G | missense variant | pathogenic |
| rs2522220959 | 1:22,412,948 | C/T | — | likely benign |
| rs797044870 | 1:22,412,949 | A/G | missense variant | pathogenic |
| rs1553196096 | 1:22,412,956 | G/A | — | pathogenic |
| rs1645663343 | 1:22,412,959 | C/T | — | uncertain significance |
| rs368234616 | 1:22,412,960 | G/A | — | benign |
| rs2522221104 | 1:22,412,975 | A/G | — | likely benign |
| rs1645663483 | 1:22,412,980 | A/T | — | likely pathogenic |
| rs1553196100 | 1:22,412,995 | G/T | — | likely pathogenic |
| rs1553196101 | 1:22,413,000 | T/C | — | pathogenic |
| rs1645663697 | 1:22,413,014 | A/G | — | likely benign |
| rs16826534 | 1:22,413,029 | C/T | — | likely benign |
| rs1440827248 | 1:22,413,049 | G/C | — | likely benign |
| rs750018506 | 1:22,413,050 | A/G | — | likely benign |
| rs2522221411 | 1:22,413,053 | A/G | — | likely benign |
| rs566930929 | 1:22,413,058 | C/T | — | likely benign |
| rs368182745 | 1:22,413,143 | T/C | — | likely benign |
| rs1645664883 | 1:22,413,147 | A/C | — | likely benign |
| rs2522222230 | 1:22,413,150 | A/G | — | likely benign |
| rs749458285 | 1:22,413,152 | C/G | — | likely benign |
| rs375227168 | 1:22,413,167 | G/A | — | likely benign |
| rs2124039527 | 1:22,413,173 | G/A | — | likely benign |
| rs747386911 | 1:22,413,179 | T/G | — | likely benign |
| rs768942398 | 1:22,413,200 | T/A | — | likely benign |
| rs1553196119 | 1:22,413,219 | C/G | — | likely pathogenic |
| rs772882822 | 1:22,413,221 | A/G | — | benign |
| rs143448220 | 1:22,413,230 | C/T | — | likely benign |
| rs2522222793 | 1:22,413,232 | G/A | — | uncertain significance |
| rs766033563 | 1:22,413,239 | C/T | — | likely benign |
| rs1317599160 | 1:22,413,242 | C/T | — | likely benign |
| rs1326906815 | 1:22,413,244 | C/T | — | uncertain significance |
| rs1235149233 | 1:22,413,262 | C/T | — | uncertain significance |
| rs2522223083 | 1:22,413,281 | T/C | — | likely benign |
| rs142108830 | 1:22,413,282 | A/G | — | uncertain significance |
| rs376287924 | 1:22,413,287 | T/A | — | likely benign |
| rs1405901539 | 1:22,413,288 | C/T | — | uncertain significance |
| rs753660519 | 1:22,413,290 | A/G | — | likely benign |
| rs16826536 | 1:22,413,335 | T/C | — | benign |
| rs758444709 | 1:22,413,341 | G/C | — | uncertain significance |
| rs2124039825 | 1:22,413,343 | G/A | — | uncertain significance |
| rs1553196134 | 1:22,413,349 | C/T | — | pathogenic |
| rs1645666283 | 1:22,413,359 | G/A | — | uncertain significance |
| rs1645666304 | 1:22,413,364 | G/A | — | uncertain significance |
| rs1157835883 | 1:22,413,366 | A/T | — | likely benign |
| rs2522223493 | 1:22,413,367 | T/A | — | likely benign |
| rs2522223850 | 1:22,413,379 | C/T | — | likely benign |
| rs555281501 | 1:22,414,029 | G/C | — | — |
| rs2268177 | 1:22,415,410 | A/G | — | — |
| rs373592909 | 1:22,416,432 | G/A | — | likely benign |
| rs2522245014 | 1:22,416,435 | G/T | — | uncertain significance |
| rs2522245188 | 1:22,416,456 | T/A | — | uncertain significance |
| rs746524195 | 1:22,417,909 | A/T | — | likely benign |
| rs768225228 | 1:22,417,911 | C/T | — | likely benign |
| rs2522255675 | 1:22,417,919 | A/G | — | uncertain significance |
| rs2124053783 | 1:22,417,943 | A/G | — | likely pathogenic |
| rs200782611 | 1:22,417,944 | C/T | — | likely benign |
| rs1553196539 | 1:22,417,945 | G/A | — | pathogenic |
| rs759623419 | 1:22,417,963 | C/T | — | likely benign |
| rs1312558197 | 1:22,417,971 | T/A | — | likely benign |
| rs1240303878 | 1:22,417,979 | C/A | — | uncertain significance |
| rs16826564 | 1:22,417,980 | G/A | — | likely benign |
| rs2522255954 | 1:22,417,990 | C/T | — | pathogenic |
| rs756680625 | 1:22,417,991 | G/A | — | uncertain significance |
| rs1645714924 | 1:22,417,992 | C/T | — | likely benign |
| rs2124053934 | 1:22,417,997 | G/A | — | pathogenic |
| rs754298921 | 1:22,418,000 | T/C | — | uncertain significance |
| rs568740145 | 1:22,418,007 | A/G | — | likely benign |
| rs10917151 | 1:22,422,721 | G/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.