DOCK6 - dedicator of cytokinesis 6 Gene

Homo sapiens

Also known as AOS2; ZIR1

Gene ID: 57572 | Gene type: protein coding

About DOCK6

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:11,199,295-11,262,524 (from NCBI)

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

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32203420	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DOCK6 Protein Structure

DUF3398

DOCK-C2

DHR-2

0
400
800
1200
1600
2047 a.a.

Protein Preferred Names

Protein Names

dedicator of cytokinesis protein 6

DOCK6 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	DOCK6	Q96HP0	LRCH4	Homo sapiens	O75427	Anti Tag CoIP	32203420

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Adams-Oliver Syndrome 2

AOS2	Adams-Oliver Syndrome, Type 2

Adams-Oliver Syndrome

Adams Oliver Syndrome	Aos
Congenital Scalp Defects With Distal Limb Reduction Anomalies	Aplasia Cutis Congenita With Terminal Transverse Limb Defects
Congenital Scalp Defects With Distal Limb Anomalies	Limb, Scalp And Skull Defects
Limb Scalp And Skull Defects	Absence Defect Of Limbs, Scalp, And Skull

Familial Hypercholesterolemia

Hyperlipoproteinemia Type Iia	Familial Hyperbetalipoproteinaemia
Familial Hypercholesteremia	Fredrickson Type Iia Hyperlipoproteinemia
Fredrickson Type Iia Lipidaemia	Hyperbetalipoproteinemia
Type Ii Hyperlipidemia	Familial Hypercholesterolæmia
Familial Hypercholesterolaemia	Fh
Hypercholesterolemia Familial	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial

Hypercholesterolemia, Familial, 1

Hypercholesterolemia	FHCL1
Fhc	Fh
Hyperlipoproteinemia, Type Ii	Hyperlipoproteinemia, Type Iia
Hyper-Low-Density-Lipoproteinemia	Hypercholesterolemic Xanthomatosis, Familial
Ldl Receptor Disorder	Hypercholesterolemia, Susceptibility To
Hypercholesterolemia, Familial, Modifier Of	Hypercholesterolemia, Familial, Due To Ldlr Defect, Modifier Of
Ldl Cholesterol Level Qtl2	Hyperlipoproteinemia Type Ii
Hypercholesterolemia, Familial, Type 1	High Cholesterol
Increased Cholesterol	Low-Density-Lipoid-Type Hyperlipoproteinemia
Pure Hypercholesterolaemia	Ldl - [Low Density Lipoprotein} Hyperlipoproteinemia
Group A Hyperlipidaemia	Pure Hypercholesterinaemia
Cholesterolaemia	Essential Cholesterolaemia
Essential Hypercholesterolaemia	Group A Hyperlipemia
Increased Low Density Lipoprotein	Low-Density-Lipoprotein-Type
Low-Density-Lipoprotein-Type Hyperlipoproteinemia

Adams-Oliver Syndrome 1

AOS1	Congenital Scalp Defects With Distal Limb Reduction Anomalies
Aplasia Cutis Congenita With Terminal Transverse Limb Defects	Aos
Absence Defect Of Limbs, Scalp, And Skull	Absence Defect Of Limbs Scalp And Skull
Adams-Oliver Syndrome, Type 1	Adams Oliver Syndrome

Paget'S Disease Of Bone

Osteitis Deformans	Paget Disease Of Bone
Osseous Paget'S Disease	Paget Disease Of Bone, Familial
Bone Paget Disease	Familial Paget'S Disease Of Bone
Paget'S Bone Disease	Familial Paget Disease Of Bone
Paget Disease, Bone	Pdb
Pagets Bone Disease

Oliver Syndrome

Postaxial Polydactyly-Intellectual Disability Syndrome

Postaxial Polydactyly And Mental Retardation

Aplasia Cutis Congenita

Aplasia Cutis Congenita Of Limbs Recessive	Congenital Absence Of Skin On The Upper Or Lower Limbs
Recessive Aplasia Cutis Congenita Of The Limbs	Aplasia Cutis Congenita Nonsyndromic
Congenital Defect Of Skull And Scalp	Scalp Defect Congenital

Aortic Valve Disease 1

Aortic Valve Disease	Bicuspid Aortic Valve
Aortic Valve Disorder	AOVD1
Bav	Bicuspid Aortic Valve Disease
Familial Bicuspid Aortic Valve	Aortic Valve Calcification
Aovd	Aortic Valve, Bicuspid
Aortic Valve, Calcification Of	Aortic Stenosis, Calcific
Familial Bav	Calcific Aortic Stenosis
Calcification Of Aortic Valve	Abnormality Of The Aortic Valve
Aortic Valve Disease, Type 1	Aortic Valve Disease 2
Bicommissural Aortic Valve

Immunodeficiency 40

Dock2 Deficiency	IMD40
Immunodeficiency, Type 40

Chromosome 22q11.2 Deletion Syndrome, Distal

22q11.2 Deletion Syndrome	Autosomal Dominant Opitz G/Bbb Syndrome
Catch22	Cayler Cardiofacial Syndrome
Conotruncal Anomaly Face Syndrome	Digeorge Syndrome
Sedlackova Syndrome	Shprintzen Syndrome
Velocardiofacial Syndrome	22q11.2 Distal Deletion Syndrome
Distal 22q11.2 Microdeletion Syndrome	22q11.2ds
Vcfs	Velo-Cardio-Facial Syndrome
Distal Chromosome 22q11.2 Deletion Syndrome	Chromosome 22q11.2 Deletion Syndrome Distal
Chromosome 22q11.2 Deletion Syndrome	Deletion 22q11.2 Syndrome
22q11ds	Catch 22
Digeorge Sequence	Microdeletion 22q11.2
Monosomy 22q11	Takao Syndrome
Distal Del(22)(Q11.2)	Distal Monosomy 22q11.2
Catch 22 Syndrome	Chromosome Deletion Syndrome 22q11.2, Distal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03928	DOCK6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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