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The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
DOCK7 (Dedicator Of Cytokinesis 7) is a Protein Coding gene. Diseases associated with DOCK7 include Developmental And Epileptic Encephalopathy 23 and Cortical Blindness. Among its related pathways are Signaling by GPCR and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include binding and Rac GTPase binding. An important paralog of this gene is DOCK6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 24255178 |
GO:0031267 | small GTPase binding | IDA | 16982419 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005925 | focal adhesion | HDA | 21423176 |
GO:0008180 | colocalizes_with COP9 signalosome | IDA | 18850735 |
GO:0030424 | axon | TAS | 16982419 |
GO:0030426 | growth cone | TAS | 16982419 |
GO:0042995 | cell projection | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000226 | microtubule cytoskeleton organization | IMP | 16982419 |
GO:0007264 | small GTPase mediated signal transduction | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007399 | nervous system development | IEA | -- |
GO:0007409 | axonogenesis | IMP | 16982419 |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | DOCK7 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | DOCK7 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | DOCK7 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | DOCK7 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | DOCK7 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Dock7 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Dock7 30 |
|
||
Chicken (Gallus gallus) |
Aves | DOCK7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | DOCK7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dock6 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | dock7 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Zir 30 |
|
||
CG11376 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010192 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | F46H5.4 30 31 |
|
OneToMany | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SPK1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
834171 | Uncertain Significance: Epileptic encephalopathy, early infantile, 23 | 62,552,785(-) |
A/T NM_001367561.1(DOCK7):c.2713T>A (p.Ser905Thr) |
MISSENSE | |
834176 | Uncertain Significance: Epileptic encephalopathy, early infantile, 23 | 62,552,751(-) |
C/T NM_001367561.1(DOCK7):c.2747G>A (p.Arg916Gln) |
MISSENSE | |
834762 | Uncertain Significance: Epileptic encephalopathy, early infantile, 23 | 62,528,207(-) |
C/T NM_001367561.1(DOCK7):c.3880G>A (p.Ala1294Thr) |
MISSENSE | |
835285 | Uncertain Significance: Epileptic encephalopathy, early infantile, 23 | 62,586,507(-) |
C/T NM_001367561.1(DOCK7):c.1800G>A (p.Pro600=) |
SYNONYMOUS | |
836157 | Uncertain Significance: Epileptic encephalopathy, early infantile, 23 | 62,544,951(-) |
G/A NM_001367561.1(DOCK7):c.2855C>T (p.Thr952Ile) |
MISSENSE_VARIANT,INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv94n106 | CNV | deletion | 24896259 |
esv1006212 | CNV | deletion | 20482838 |
esv1250656 | CNV | deletion | 17803354 |
esv2408644 | CNV | deletion | 18987734 |
esv2553332 | CNV | deletion | 19546169 |
esv2749018 | CNV | deletion | 23290073 |
esv2762146 | CNV | loss | 21179565 |
esv2852124 | CNV | deletion | 24192839 |
esv3563048 | CNV | deletion | 23714750 |
esv5210 | CNV | loss | 18987735 |
esv5823 | CNV | loss | 19470904 |
nsv1000988 | CNV | loss | 25217958 |
nsv1011203 | CNV | loss | 25217958 |
nsv1014376 | CNV | loss | 25217958 |
nsv1076485 | CNV | deletion | 25765185 |
nsv1077363 | CNV | deletion | 25765185 |
nsv1127003 | CNV | deletion | 24896259 |
nsv1144381 | CNV | deletion | 24896259 |
nsv1147481 | CNV | deletion | 26484159 |
nsv159028 | CNV | deletion | 16902084 |
nsv950775 | CNV | duplication | 24416366 |
nsv958629 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
developmental and epileptic encephalopathy 23 |
|
|
cortical blindness |
|
|
hypobetalipoproteinemia, familial, 2 |
|
|
night blindness, congenital stationary, autosomal dominant 3 |
|
|
visual cortex disease |
|
|