DOCK6 - dedicator of cytokinesis 6 Gene

Also Known as AOS2; ZIR1

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 57572

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
Molecular Function GO Annotation Evidence References 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

DUF3398: Domain of unknown function (DUF3398) (62 - 155)

DOCK-C2

DOCK-C2: C2 domain in Dock180 and Zizimin proteins (543 - 724)

DHR-2

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

DOCK6 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
DOCK6 Q96HP0 LRCH4 Homo sapiens O75427 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

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