DOCK6 - dedicator of cytokinesis 6 Gene
Also Known as AOS2; ZIR1
Species: Homo sapiens
About DOCK6
This gene has 16 transcripts (splice variants), 201 orthologues, 10 paralogues and is associated with 3 phenotypes. Ubiquitous expression in fat (RPKM 16.5), lung (RPKM 12.6) and 24 other tissues.
Summary
This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]
DOCK6 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001367830.1 | NP_001354759.1 | dedicator of cytokinesis protein 6 isoform 2 |
| NM_020812.4 | NP_065863.2 | dedicator of cytokinesis protein 6 isoform 1 |
| Molecular Function GO Annotation | Evidence | Verweise | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32203420 | GOA |
DOCK6 Protein Structure
DUF3398: Domain of unknown function (DUF3398) (62 - 155)
DOCK-C2: C2 domain in Dock180 and Zizimin proteins (543 - 724)
DHR-2: Dock homology region 2 (1839 - 2016)
- 0
- 400
- 800
- 1200
- 1600
- 2047 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
dedicator of cytokinesis protein 6 |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Adams-Oliver Syndrome 2 |
|
|
| Adams-Oliver Syndrome |
|
|
| Familial Hypercholesterolemia |
|
|
| Hypercholesterolemia, Familial, 1 |
|
|
| Adams-Oliver Syndrome 1 |
|
|
| Paget'S Disease Of Bone |
|
|
| Oliver Syndrome |
|
|
| Aplasia Cutis Congenita |
|
|
| Aortic Valve Disease 1 |
|
|
| Immunodeficiency 40 |
|
|
| Chromosome 22q11.2 Deletion Syndrome, Distal |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | DOCK6 | VGNC | VGNC:40050 |
| Rattus norvegicus | DOCK6 | RGD | RGD:1306517 |
| Macaca mulatta | DOCK6 | VGNC | VGNC:71863 |
| Felis catus | DOCK6 | VGNC | VGNC:61575 |
| Mus musculus | DOCK6 | MGD | MGI:1914789 |
| Bos taurus | DOCK6 | VGNC | VGNC:28160 |
| Others | DOCK6 | NCBI |