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  2. DOCK3 - dedicator of cytokinesis 3 Gene

DOCK3 - dedicator of cytokinesis 3 Gene

Homo sapiens

Also known as PBP; MOCA; NEDIDHA

Gene ID: 1795 | Gene type: protein coding

About DOCK3

Cytogenetic location: 3p21.2 Genomic coordinates (GRCh38): 3:50,674,927-51,384,198 (from NCBI)

This gene has 1 transcript (splice variant), 271 orthologues, 10 paralogues and is associated with 2 phenotypes. Biased expression in brain (RPKM 7.9), thyroid (RPKM 4.0) and 6 other tissues.

Summary

This gene is specifically expressed in the central nervous system (CNS). It encodes a member of the DOCK (dedicator of cytokinesis) family of guanine nucleotide exchange factors (GEFs). This protein, dedicator of cytokinesis 3 (DOCK3), is also known as modifier of cell adhesion (MOCA) and presenilin-binding protein (PBP). The DOCK3 and DOCK1, -2 and -4 share several conserved Amino acids in their DHR-2 (DOCK homology region 2) domains that are required for GEF activity, and bind directly to WAVE proteins [Wiskott-Aldrich syndrome protein (WASP) family Verprolin-homologous proteins] via their DHR-1 domains. The DOCK3 induces axonal outgrowth in CNS by stimulating membrane recruitment of the WAVE complex and activating the small G protein Rac1. This gene is associated with an attention deficit hyperactivity disorder-like phenotype by a complex chromosomal rearrangement. [provided by RefSeq, Aug 2010]

DOCK3 Products(1)

mRNA Protein Name
NM_004947.5 NP_004938.1 dedicator of cytokinesis protein 3

DOCK3 Protein Structure

SH3_2

SH3_2: Variant SH3 domain (10 - 61)

DOCK-C2

DOCK-C2: C2 domain in Dock180 and Zizimin proteins (416 - 609)

DHR-2

DHR-2: Dock homology region 2 (1444 - 1627)

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  • 2030 a.a.
Protein Preferred Names Protein Names

dedicator of cytokinesis protein 3

modifier of cell adhesion

Related Diseases

Diseases Alias
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia

NEDIDHA

Neurodevelopmental Disorder, Impaired Intellectual Development, Hypotonia, And Ataxia

Hypotonia
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder

Complex Chromosomal Rearrangement
Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

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
Bos taurus DOCK3 VGNC VGNC:50146
Canis familiaris DOCK3 VGNC VGNC:40047
Mus musculus DOCK3 MGD MGI:2429763
Macaca mulatta DOCK3 VGNC VGNC:71967
Felis catus DOCK3 VGNC VGNC:61572
Rattus norvegicus DOCK3 RGD RGD:1306677