DCTN3
dynactin subunit 3
Summary
This gene encodes the smallest subunit of dynactin, a macromolecular complex consisting of 10 subunits ranging in size from 22 to 150 kD. Dynactin binds to both microtubules and cytoplasmic dynein. It is involved in a diverse array of cellular functions, including ER-to-Golgi transport, the centripetal movement of lysosomes and endosomes, spindle formation, cytokinesis, chromosome movement, nuclear positioning, and axonogenesis. This subunit, like most other dynactin subunits, exists only as a part of the dynactin complex. It is primarily an alpha-helical protein with very little coiled coil, and binds directly to the largest subunit (p150) of dynactin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
Known Variants13 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2492733038 | 9:34,613,843 | A/G | — | uncertain significance |
| rs1462382857 | 9:34,614,067 | T/C | — | uncertain significance |
| rs758856591 | 9:34,616,086 | A/G | — | uncertain significance |
| rs766579110 | 9:34,617,926 | C/A | — | uncertain significance |
| rs1020680836 | 9:34,617,930 | C/T | — | uncertain significance |
| rs770753091 | 9:34,617,952 | C/A | — | uncertain significance |
| rs764165942 | 9:34,618,732 | T/C | — | uncertain significance |
| rs1190312971 | 9:34,620,395 | C/G | — | uncertain significance |
| rs2492759861 | 9:34,620,422 | C/T | — | uncertain significance |
| rs1342143559 | 9:34,620,424 | C/A | — | uncertain significance |
| rs961742356 | 9:34,620,439 | T/C | — | uncertain significance |
| rs1474778701 | 9:34,620,446 | C/T | — | uncertain significance |
| rs3808869 | 9:34,622,389 | A/G | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.