Gene: DOCK3

Alternate names for this Gene: MOCA|NEDIDHA|PBP

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p21.2

Description of this Gene: dedicator of cytokinesis 3

Type of Gene: protein-coding

rs17659990 in DOCK3 gene and Adenocarcinoma of large intestine PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs1552074 in DOCK3 gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs73072483 in DOCK3 gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs13069365 in DOCK3 gene and Body Fat Distribution PMID 30664634 2019 Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects.

rs13088462 in DOCK3 gene and Body Height PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs10510757 in DOCK3 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs17659990 in DOCK3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs17659990 in DOCK3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs17659990 in DOCK3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs17659990 in DOCK3 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs17659990 in DOCK3 gene and Colorectal Carcinoma PMID 29228715 2017 A genome-wide significant association of rs17659990 (P=5.43×10<sup>-9</sup>, <i>DOCK3</i>, chromosome 3p21.2) with colorectal cancer risk was observed.

rs17659990 in DOCK3 gene and Colorectal Neoplasms PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs11920441 in DOCK3 gene and Diverticular Diseases PMID 30177863 2018 Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.

rs1553749681 in DOCK3 gene and Dysmorphic features PMID 15234347 2004 Regulation of dendritic spine motility and stability by Rac1 and Rho kinase: evidence for two forms of spine motility.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 12566533 2003 A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.

PMID 28195318 2017 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

PMID 10884317 2000 Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 10854253 2000 Isolation and characterization of novel presenilin binding protein.

PMID 24870542 2014 A draft map of the human proteome.

PMID 12432077 2002 Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.

PMID 25016980 2014 Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration.

PMID 20368433 2010 Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.

PMID 29130632 2018 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 17055478 2006 Neurotrophin receptor homolog (NRH1) proteins regulate mesoderm formation and apoptosis during early Xenopus development.

PMID 14569117 2003 Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

PMID 19129390 2009 Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration.

PMID 17911219 2008 BDNF and memory formation and storage.

PMID 14682358 2003 Signalling mechanisms mediating neuronal responses to guidance cues.

PMID 17046689 2006 Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.

PMID 15829629 2005 TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.

PMID 15494731 2004 A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

rs73072483 in DOCK3 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs62257807 in DOCK3 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs13088462 in DOCK3 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs10510754 in DOCK3 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs17659990 in DOCK3 gene and Malignant neoplasm of large intestine PMID 29228715 2017 A genome-wide significant association of rs17659990 (P=5.43×10<sup>-9</sup>, <i>DOCK3</i>, chromosome 3p21.2) with colorectal cancer risk was observed.

rs17659990 in DOCK3 gene and Malignant tumor of colon PMID 29228715 2017 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.

rs1553749681 in DOCK3 gene and Movement Disorders PMID 20368433 2010 Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.

PMID 29130632 2018 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PMID 17911219 2008 BDNF and memory formation and storage.

PMID 25016980 2014 Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 17055478 2006 Neurotrophin receptor homolog (NRH1) proteins regulate mesoderm formation and apoptosis during early Xenopus development.

PMID 14682358 2003 Signalling mechanisms mediating neuronal responses to guidance cues.

PMID 28195318 2017 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 24870542 2014 A draft map of the human proteome.

PMID 19129390 2009 Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 15829629 2005 TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.

PMID 17046689 2006 Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.

PMID 15494731 2004 A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 15234347 2004 Regulation of dendritic spine motility and stability by Rac1 and Rho kinase: evidence for two forms of spine motility.

PMID 10884317 2000 Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons.

PMID 12432077 2002 Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.

PMID 14569117 2003 Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

PMID 10854253 2000 Isolation and characterization of novel presenilin binding protein.

PMID 12566533 2003 A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.

rs1553749681 in DOCK3 gene and Muscle hypotonia PMID 15284851 2004 Nonsense-mediated decay approaches the clinic.

PMID 17055478 2006 Neurotrophin receptor homolog (NRH1) proteins regulate mesoderm formation and apoptosis during early Xenopus development.

PMID 24896178 2014 Genome sequencing identifies major causes of severe intellectual disability.

PMID 14682358 2003 Signalling mechanisms mediating neuronal responses to guidance cues.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 25016980 2014 Dock GEFs and their therapeutic potential: neuroprotection and axon regeneration.

PMID 17046689 2006 Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation.

PMID 15494731 2004 A de novo mutation affecting human TrkB associated with severe obesity and developmental delay.

PMID 15829629 2005 TrkB has a cell-autonomous role in the establishment of hippocampal Schaffer collateral synapses.

PMID 24870542 2014 A draft map of the human proteome.

PMID 15234347 2004 Regulation of dendritic spine motility and stability by Rac1 and Rho kinase: evidence for two forms of spine motility.

PMID 25599672 2015 Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.

PMID 20368433 2010 Dock3 induces axonal outgrowth by stimulating membrane recruitment of the WAVE complex.

PMID 19129390 2009 Loss of modifier of cell adhesion reveals a pathway leading to axonal degeneration.

PMID 17911219 2008 BDNF and memory formation and storage.

PMID 28139846 2017 Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.

PMID 28195318 2017 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

PMID 14569117 2003 Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.

PMID 29130632 2018 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PMID 10884317 2000 Small GTPases Rac and Rho in the maintenance of dendritic spines and branches in hippocampal pyramidal neurons.

PMID 12432077 2002 Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity.

PMID 12566533 2003 A novel pericentric inversion of chromosome 3 cosegregates with a developmental-behavioural phenotype.

PMID 10854253 2000 Isolation and characterization of novel presenilin binding protein.

rs142515812 in DOCK3 gene and NEURODEVELOPMENTAL DISORDER WITH IMPAIRED INTELLECTUAL DEVELOPMENT, HYPOTONIA, AND ATAXIA PMID 30976111 2019 Variants in DOCK3 cause developmental delay and hypotonia.

PMID 29130632 2018 DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.

PMID 28195318 2017 Biallelic loss-of-function variants in DOCK3 cause muscle hypotonia, ataxia, and intellectual disability.

rs4378999 in DOCK3 gene and Smoking PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs4378999 in DOCK3 gene and Smoking Behaviors PMID 28443625 2017 Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

rs7633959 in DOCK3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.