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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 (Dedicator Of Cytokinesis 6) is a Protein Coding gene. Diseases associated with DOCK6 include Adams-Oliver Syndrome 2 and Adams-Oliver Syndrome. Among its related pathways are Regulation of CDC42 activity and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IDA,TAS | -- |
GO:0048471 | perinuclear region of cytoplasm | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Factors involved in megakaryocyte development and platelet production | ||
2 | Response to elevated platelet cytosolic Ca2+ |
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3 | G-protein signaling_Regulation of CDC42 activity |
G-protein signaling_Regulation of CDC42 activity
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4 | Regulation of CDC42 activity | ||
5 | Regulation of RAC1 activity |
Symbol | External ID(s) | Details |
---|---|---|
CRLF3 | ||
DOCK7 | ||
DOCK8 | ||
ENSG00000272822 | ||
KIF7 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0007264 | small GTPase mediated signal transduction | IEA | -- |
GO:0007596 | blood coagulation | TAS | -- |
ExUns: | 1 | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | · | 4c | ^ | 5 | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19a | · | 19b | ^ | 20 | ^ | 21 | ^ |
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SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP8: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP9: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP10: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP11: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP12: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP13: |
ExUns: | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ | 25a | · | 25b | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29a | · | 29b | · | 29c | ^ | 30a | · | 30b | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34a | · | 34b | ^ | 35 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||||
SP5: | |||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||
SP7: | |||||||||||||||||||||||||||||||||||||||
SP8: | |||||||||||||||||||||||||||||||||||||||
SP9: | |||||||||||||||||||||||||||||||||||||||
SP10: | |||||||||||||||||||||||||||||||||||||||
SP11: | - | ||||||||||||||||||||||||||||||||||||||
SP12: | |||||||||||||||||||||||||||||||||||||||
SP13: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DOCK6 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DOCK6 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DOCK6 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dock6 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Dock6 30 17 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DOCK6 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DOCK6 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DOCK6 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dock7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | DOCK6 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | CG11376 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | F46H5.4 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
31128 | Pathogenic: Adams-Oliver syndrome 2 | 11,243,569(-) | C/CA | NONSENSE | |
650992 | Likely Pathogenic: not provided | 11,243,884(-) | T/A | SPLICE_ACCEPTOR_VARIANT | |
708615 | Likely Benign: not provided | 11,215,478(-) | C/T | INTRON_VARIANT | |
708964 | Likely Benign: not provided | 11,252,143(-) | G/A | SYNONYMOUS_VARIANT | |
709958 | Benign: not provided | 11,213,188(-) | G/A | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv3427n100 | CNV | gain | 25217958 |
esv2718174 | CNV | deletion | 23290073 |
esv2718175 | CNV | deletion | 23290073 |
esv2718176 | CNV | deletion | 23290073 |
esv2718177 | CNV | deletion | 23290073 |
esv28707 | CNV | gain | 19812545 |
nsv1060605 | CNV | gain | 25217958 |
nsv1065030 | CNV | gain | 25217958 |
nsv1072324 | CNV | deletion | 25765185 |
nsv1127653 | CNV | deletion | 24896259 |
nsv477048 | CNV | novel sequence insertion | 20440878 |
nsv519802 | CNV | loss | 19592680 |
nsv522449 | CNV | loss | 19592680 |
nsv523678 | CNV | loss | 19592680 |
nsv525977 | CNV | loss | 19592680 |
nsv578613 | CNV | gain | 21841781 |
nsv578614 | CNV | loss | 21841781 |
nsv833752 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
adams-oliver syndrome 2 |
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adams-oliver syndrome |
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oliver syndrome |
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adams-oliver syndrome 1 |
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aortic valve disease 1 |
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