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Aliases for DOCK3 Gene

Aliases for DOCK3 Gene

  • Dedicator Of Cytokinesis 3 2 3 5
  • Presenilin-Binding Protein 3 4
  • Modifier Of Cell Adhesion 3 4
  • MOCA 3 4
  • PBP 3 4
  • Dedicator Of Cytokinesis Protein 3 3
  • Dedicator Of Cyto-Kinesis 3 2
  • KIAA0299 4

External Ids for DOCK3 Gene

Previous GeneCards Identifiers for DOCK3 Gene

  • GC03P050193
  • GC03M050491
  • GC03P050670
  • GC03P050671
  • GC03P050687

Summaries for DOCK3 Gene

Entrez Gene Summary for DOCK3 Gene

  • 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]

GeneCards Summary for DOCK3 Gene

DOCK3 (Dedicator Of Cytokinesis 3) is a Protein Coding gene. Diseases associated with DOCK3 include Attention Deficit-Hyperactivity Disorder and Alzheimer Disease. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Brain-Derived Neurotrophic Factor (BDNF) signaling pathway. Gene Ontology (GO) annotations related to this gene include binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK4.

UniProtKB/Swiss-Prot for DOCK3 Gene

  • Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells decreases the secretion of amyloid-beta APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell adhesion receptors (By similarity).

Gene Wiki entry for DOCK3 Gene

Additional gene information for DOCK3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOCK3 Gene

Genomics for DOCK3 Gene

GeneHancer (GH) Regulatory Elements for DOCK3 Gene

Promoters and enhancers for DOCK3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH03I050674 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +0.1 136 1.4 CTCF MXI1 NFATC3 HIC1 ZNF335 FOXM1 E2F1 ZFHX2 CTBP1 POLR2A DOCK3 MIR4787 GMPPB PPIAP69
GH03I050676 Enhancer 0.5 Ensembl 550.8 +1.4 1432 0.4 ATF4 CBX8 RNF2 CEBPG PRDM4 MIR4787 DOCK3 PPIAP69
GH03I050616 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 23.6 -50.0 -49969 18 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 IRF4 ZNF143 MAPKAPK3 DOCK3 HEMK1 C3orf18 MANF GNAI2 LSMEM2 HYAL1 RASSF1 CYB561D2
GH03I050598 Promoter/Enhancer 3.2 VISTA EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.3 -68.5 -68482 15 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC CISH MAPKAPK3 HEMK1 RBM5 RBM6 TMEM115 RAD54L2 SEMA3F-AS1 C3orf18 DOCK3
GH03I050566 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 -103.1 -103066 10 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 HEMK1 C3orf18 CISH RBM5 RBM6 RAD54L2 SEMA3F-AS1 MAPKAPK3 DOCK3 TMEM115
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DOCK3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DOCK3 gene promoter:

Genomic Locations for DOCK3 Gene

Genomic Locations for DOCK3 Gene
chr3:50,674,969-51,384,198
(GRCh38/hg38)
Size:
709,230 bases
Orientation:
Plus strand
chr3:50,712,672-51,421,629
(GRCh37/hg19)

Genomic View for DOCK3 Gene

Genes around DOCK3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOCK3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOCK3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOCK3 Gene

Proteins for DOCK3 Gene

  • Protein details for DOCK3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IZD9-DOCK3_HUMAN
    Recommended name:
    Dedicator of cytokinesis protein 3
    Protein Accession:
    Q8IZD9
    Secondary Accessions:
    • O15017

    Protein attributes for DOCK3 Gene

    Size:
    2030 amino acids
    Molecular mass:
    233103 Da
    Quaternary structure:
    • Interacts with presenilin proteins PSEN1 and PSEN2. Interacts with CRK (By similarity).

neXtProt entry for DOCK3 Gene

Post-translational modifications for DOCK3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DOCK3 Gene

Domains & Families for DOCK3 Gene

Gene Families for DOCK3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DOCK3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8IZD9

UniProtKB/Swiss-Prot:

DOCK3_HUMAN :
  • The DHR-2 domain may mediate some GEF activity.
  • Belongs to the DOCK family.
Domain:
  • The DHR-2 domain may mediate some GEF activity.
Family:
  • Belongs to the DOCK family.
genes like me logo Genes that share domains with DOCK3: view

Function for DOCK3 Gene

Molecular function for DOCK3 Gene

UniProtKB/Swiss-Prot Function:
Potential guanine nucleotide exchange factor (GEF). GEF proteins activate some small GTPases by exchanging bound GDP for free GTP. Its interaction with presenilin proteins as well as its ability to stimulate Tau/MAPT phosphorylation suggest that it may be involved in Alzheimer disease. Ectopic expression in nerve cells decreases the secretion of amyloid-beta APBA1 protein and lowers the rate of cell-substratum adhesion, suggesting that it may affect the function of some small GTPase involved in the regulation of actin cytoskeleton or cell adhesion receptors (By similarity).

Phenotypes From GWAS Catalog for DOCK3 Gene

Gene Ontology (GO) - Molecular Function for DOCK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005515 protein binding IPI 17474147
GO:0017124 SH3 domain binding IEA --
genes like me logo Genes that share ontologies with DOCK3: view
genes like me logo Genes that share phenotypes with DOCK3: view

Animal Models for DOCK3 Gene

MGI Knock Outs for DOCK3:

miRNA for DOCK3 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DOCK3 Gene

Localization for DOCK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOCK3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DOCK3 gene
Compartment Confidence
cytosol 5
plasma membrane 3
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DOCK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with DOCK3: view

Pathways & Interactions for DOCK3 Gene

genes like me logo Genes that share pathways with DOCK3: view

Pathways by source for DOCK3 Gene

Gene Ontology (GO) - Biological Process for DOCK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0065009 regulation of molecular function IEA --
genes like me logo Genes that share ontologies with DOCK3: view

No data available for SIGNOR curated interactions for DOCK3 Gene

Drugs & Compounds for DOCK3 Gene

(3) Drugs for DOCK3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with DOCK3: view

Transcripts for DOCK3 Gene

mRNA/cDNA for DOCK3 Gene

Unigene Clusters for DOCK3 Gene

Dedicator of cytokinesis 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOCK3 Gene

No ASD Table

Relevant External Links for DOCK3 Gene

GeneLoc Exon Structure for
DOCK3
ECgene alternative splicing isoforms for
DOCK3

Expression for DOCK3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DOCK3 Gene

mRNA differential expression in normal tissues according to GTEx for DOCK3 Gene

This gene is overexpressed in Brain - Cortex (x5.0) and Brain - Frontal Cortex (BA9) (x4.9).

Protein differential expression in normal tissues from HIPED for DOCK3 Gene

This gene is overexpressed in Frontal cortex (21.0), Heart (18.9), and Fetal Brain (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DOCK3 Gene



Protein tissue co-expression partners for DOCK3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DOCK3 Gene:

DOCK3

SOURCE GeneReport for Unigene cluster for DOCK3 Gene:

Hs.476284

mRNA Expression by UniProt/SwissProt for DOCK3 Gene:

Q8IZD9-DOCK3_HUMAN
Tissue specificity: In normal brains, it is localized in the neuropil, and occasionally in the pyramidal cells, while in Alzheimer disease brains, it is associated with neurofibrillary tangles.

Evidence on tissue expression from TISSUES for DOCK3 Gene

  • Nervous system(4.8)
  • Eye(2)
genes like me logo Genes that share expression patterns with DOCK3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for DOCK3 Gene

Orthologs for DOCK3 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for DOCK3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOCK3 33 34
  • 99.54 (n)
cow
(Bos Taurus)
Mammalia DOCK3 34
  • 98 (a)
OneToOne
LOC524692 33
  • 92.59 (n)
dog
(Canis familiaris)
Mammalia DOCK3 33 34
  • 94.22 (n)
oppossum
(Monodelphis domestica)
Mammalia DOCK3 34
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dock3 33 16 34
  • 91.61 (n)
rat
(Rattus norvegicus)
Mammalia Dock3 33
  • 91.53 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK3 34
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves DOCK3 33 34
  • 82.13 (n)
lizard
(Anolis carolinensis)
Reptilia DOCK3 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock3 33
  • 72.91 (n)
zebrafish
(Danio rerio)
Actinopterygii dock3 33 34
  • 75.95 (n)
fruit fly
(Drosophila melanogaster)
Insecta spg 33 34
  • 53.2 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004507 33
  • 51.81 (n)
worm
(Caenorhabditis elegans)
Secernentea ced-5 34
  • 25 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 17 (a)
OneToMany
DCK1 36
Species where no ortholog for DOCK3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DOCK3 Gene

ENSEMBL:
Gene Tree for DOCK3 (if available)
TreeFam:
Gene Tree for DOCK3 (if available)

Paralogs for DOCK3 Gene

Paralogs for DOCK3 Gene

(5) SIMAP similar genes for DOCK3 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with DOCK3: view

Variants for DOCK3 Gene

Sequence variations from dbSNP and Humsavar for DOCK3 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs587776362 not-provided, not provided 51,214,148(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1000000044 -- 51,098,200(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000006944 -- 51,106,034(+) A/G genic_upstream_transcript_variant, intron_variant
rs1000012177 -- 51,275,740(+) T/G 5_prime_UTR_variant, genic_upstream_transcript_variant, intron_variant
rs1000013607 -- 50,811,777(+) T/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for DOCK3 Gene

Variant ID Type Subtype PubMed ID
dgv38n47 OTHER inversion 21111241
dgv8321n54 CNV loss 21841781
esv1442923 CNV insertion 17803354
esv1533992 OTHER inversion 17803354
esv1655991 CNV insertion 17803354
esv24311 CNV loss 19812545
esv24412 CNV loss 19812545
esv24946 CNV gain 19812545
esv2659536 CNV deletion 23128226
esv2661872 CNV deletion 23128226
esv2668021 CNV deletion 23128226
esv2677693 CNV deletion 23128226
esv2678842 CNV deletion 23128226
esv2725259 CNV deletion 23290073
esv3389505 CNV duplication 20981092
esv3596146 CNV loss 21293372
esv3596148 CNV loss 21293372
esv3596149 CNV loss 21293372
esv3596150 CNV loss 21293372
esv3596151 CNV loss 21293372
esv3596153 CNV loss 21293372
esv3596154 CNV loss 21293372
nsv1008585 CNV loss 25217958
nsv10271 CNV gain 18304495
nsv10274 CNV gain 18304495
nsv1072690 CNV deletion 25765185
nsv1123650 CNV deletion 24896259
nsv1133320 CNV tandem duplication 24896259
nsv1136362 CNV deletion 24896259
nsv1144040 CNV deletion 24896259
nsv1144989 CNV deletion 24896259
nsv1146785 CNV duplication 26484159
nsv233 OTHER inversion 15895083
nsv234 OTHER inversion 15895083
nsv237212 CNV deletion 16902084
nsv472426 CNV novel sequence insertion 20440878
nsv508919 CNV insertion 20534489
nsv590276 CNV loss 21841781
nsv590277 CNV loss 21841781
nsv7353 OTHER inversion 18451855
nsv822089 CNV loss 20364138
nsv956275 CNV deletion 24416366
nsv967016 CNV duplication 23825009

Variation tolerance for DOCK3 Gene

Residual Variation Intolerance Score: 0.801% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DOCK3 Gene

Human Gene Mutation Database (HGMD)
DOCK3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOCK3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOCK3 Gene

Disorders for DOCK3 Gene

MalaCards: The human disease database

(2) MalaCards diseases for DOCK3 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search DOCK3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DOCK3_HUMAN
  • Note=A chromosomal aberration involving DOCK3 has been found in a family with early-onset behavioral/developmental disorder with features of attention deficit-hyperactivity disorder and intellectual disability. Inversion inv(3)(p14:q21). The inversion disrupts DOCK3 and SLC9A9. {ECO:0000269 PubMed:14569117}.

Additional Disease Information for DOCK3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with DOCK3: view

No data available for Genatlas for DOCK3 Gene

Publications for DOCK3 Gene

  1. Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype. (PMID: 14569117) de Silva MG … Forrest S (Journal of medical genetics 2003) 3 4 44 58
  2. Presenilin binding protein is associated with neurofibrillary alterations in Alzheimer's disease and stimulates tau phosphorylation. (PMID: 11696419) Chen Q … Masliah E (The American journal of pathology 2001) 3 4 22 58
  3. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9205841) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 44 58

Products for DOCK3 Gene

Sources for DOCK3 Gene

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