DOCK3
dedicator of cytokinesis 3
Summary
This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]
Known Variants168 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs769279606 | 3:50,712,701 | A/G | — | uncertain significance |
| rs544108035 | 3:50,731,977 | C/T | — | — |
| rs13089255 | 3:50,744,232 | G/T | intron variant | — |
| rs879887838 | 3:50,779,393 | C/T | — | — |
| rs67943625 | 3:50,795,628 | G/A | — | — |
| rs147794010 | 3:50,796,738 | C/T | intron variant | — |
| rs575020818 | 3:50,811,463 | A/C | — | — |
| rs767290600 | 3:50,816,109 | T/C | — | uncertain significance |
| rs2544903129 | 3:50,816,127 | C/T | — | uncertain significance |
| rs187263396 | 3:50,831,923 | A/G | intron variant | — |
| rs62258668 | 3:50,840,549 | G/A | intron variant | — |
| rs115919678 | 3:50,848,219 | G/A | intron variant | — |
| rs185109799 | 3:50,866,530 | G/A | intron variant | — |
| rs1461479579 | 3:50,879,112 | A/T | — | uncertain significance |
| rs1316299898 | 3:50,879,151 | T/G | — | uncertain significance |
| rs7633959 | 3:50,919,626 | T/C | upstream gene variant | — |
| rs36070379 | 3:50,925,477 | A/G | intron variant | — |
| rs4447760 | 3:50,950,909 | C/G | — | — |
| rs766910789 | 3:50,971,464 | G/A | — | uncertain significance |
| rs144781090 | 3:50,971,488 | T/C | — | likely benign |
| rs62257822 | 3:50,973,119 | G/T | intron variant | — |
| rs7372046 | 3:51,020,242 | G/A | intron variant | — |
| rs150421637 | 3:51,047,621 | G/A | intron variant | — |
| rs34563986 | 3:51,055,576 | A/C | — | — |
| rs13088462 | 3:51,071,713 | T/G | — | — |
| rs182132166 | 3:51,082,119 | T/C | intron variant | — |
| rs7644756 | 3:51,087,260 | C/A | intron variant | — |
| rs9311464 | 3:51,096,924 | A/C | intron variant | — |
| rs189994150 | 3:51,101,887 | A/C | — | likely benign |
| rs181257952 | 3:51,101,936 | C/T | — | benign |
| rs1553749681 | 3:51,101,945 | C/T | — | pathogenic |
| rs764307212 | 3:51,101,969 | C/G | — | uncertain significance |
| rs1441269593 | 3:51,101,994 | G/A | — | uncertain significance |
| rs772466836 | 3:51,102,005 | G/A | — | uncertain significance |
| rs372196048 | 3:51,112,827 | G/A | — | uncertain significance |
| rs777749638 | 3:51,112,836 | T/C | — | uncertain significance |
| rs138144932 | 3:51,122,658 | T/C | intron variant | — |
| rs10212257 | 3:51,123,591 | T/C | intron variant | — |
| rs2082542973 | 3:51,126,675 | A/G | — | uncertain significance |
| rs2082588758 | 3:51,127,671 | T/C | — | uncertain significance |
| rs749581232 | 3:51,127,697 | C/T | — | uncertain significance |
| rs746150812 | 3:51,184,018 | C/T | — | uncertain significance |
| rs6445393 | 3:51,192,198 | C/T | intron variant | — |
| rs758629699 | 3:51,196,714 | G/A | — | uncertain significance |
| rs556907316 | 3:51,198,056 | G/A | — | likely benign |
| rs768110364 | 3:51,198,124 | A/G | — | uncertain significance |
| rs1378797018 | 3:51,198,134 | G/A | — | likely pathogenic |
| rs4378999 | 3:51,208,646 | T/G | — | — |
| rs150678371 | 3:51,209,731 | C/G | — | — |
| rs1560212751 | 3:51,246,203 | A/G | — | likely pathogenic |
| rs950181650 | 3:51,246,205 | G/A | — | conflicting classifications of pathogenicity |
| rs2548199576 | 3:51,246,239 | G/A | — | uncertain significance |
| rs2548199661 | 3:51,246,251 | C/T | — | likely pathogenic |
| rs376655049 | 3:51,246,283 | C/T | — | likely benign |
| rs587776362 | 3:51,251,579 | C/T | — | uncertain significance |
| rs199600118 | 3:51,251,601 | G/A | — | uncertain significance |
| rs2548232854 | 3:51,251,636 | G/T | — | uncertain significance |
| rs1027557243 | 3:51,263,145 | G/A | — | uncertain significance |
| rs1358280337 | 3:51,263,197 | T/C | — | uncertain significance |
| rs2090367894 | 3:51,264,730 | G/C | — | uncertain significance |
| rs1382008405 | 3:51,264,745 | A/G | — | uncertain significance |
| rs879345248 | 3:51,264,793 | G/A | — | uncertain significance |
| rs748558159 | 3:51,264,826 | T/C | — | uncertain significance |
| rs527536704 | 3:51,264,840 | G/T | — | uncertain significance |
| rs2548325874 | 3:51,265,456 | A/C | — | likely benign |
| rs746916720 | 3:51,265,467 | G/A | — | uncertain significance |
| rs1396736733 | 3:51,265,469 | G/A | — | uncertain significance |
| rs200745358 | 3:51,266,086 | C/T | — | likely benign |
| rs758542046 | 3:51,266,153 | A/T | — | uncertain significance |
| rs868601968 | 3:51,266,159 | A/G | — | uncertain significance |
| rs773945459 | 3:51,266,228 | C/G | — | uncertain significance |
| rs373320886 | 3:51,266,957 | C/G | — | uncertain significance |
| rs2548338234 | 3:51,266,977 | C/G | — | uncertain significance |
| rs201762726 | 3:51,266,985 | G/A | — | benign |
| rs763256605 | 3:51,266,991 | T/C | — | uncertain significance |
| rs752734538 | 3:51,267,011 | C/T | — | uncertain significance |
| rs1480361 | 3:51,273,773 | T/C | — | benign |
| rs1394354143 | 3:51,273,835 | C/T | — | likely benign |
| rs369711717 | 3:51,274,921 | G/A | — | uncertain significance |
| rs200554524 | 3:51,274,947 | C/T | — | likely benign |
| rs201425737 | 3:51,274,967 | G/A | — | uncertain significance |
| rs1413025045 | 3:51,274,970 | C/A | — | uncertain significance |
| rs13099095 | 3:51,277,006 | T/G | — | — |
| rs774115768 | 3:51,284,197 | G/A | — | uncertain significance |
| rs759414081 | 3:51,284,202 | A/T | — | uncertain significance |
| rs374162780 | 3:51,284,237 | G/A | — | uncertain significance |
| rs753075056 | 3:51,297,623 | C/T | — | uncertain significance |
| rs1326141503 | 3:51,297,639 | G/A | — | uncertain significance |
| rs2079779134 | 3:51,297,651 | G/T | — | uncertain significance |
| rs372189733 | 3:51,297,679 | T/C | — | likely benign |
| rs59048489 | 3:51,306,566 | C/A | intron variant | — |
| rs1400590317 | 3:51,308,324 | G/A | — | likely benign |
| rs199706076 | 3:51,308,421 | G/A | — | uncertain significance |
| rs371514131 | 3:51,308,444 | T/A | — | benign |
| rs185670675 | 3:51,312,518 | C/T | — | likely benign |
| rs2080886743 | 3:51,315,087 | G/A | — | uncertain significance |
| rs781656330 | 3:51,315,089 | C/T | — | likely benign |
| rs374377056 | 3:51,315,132 | G/A | — | uncertain significance |
| rs2548962494 | 3:51,349,467 | C/G | — | uncertain significance |
| rs556704000 | 3:51,349,977 | C/T | — | uncertain significance |
Showing 100 of 168 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.