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Aliases for DOCK3 Gene

Aliases for DOCK3 Gene

  • Dedicator Of Cytokinesis 3 2 3
  • 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 wiskott-aldrich syndrome and attention deficit-hyperactivity disorder. Among its related pathways are Phospholipase-C Pathway and Hemostasis. GO annotations related to this gene include SH3 domain binding and guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK5.

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 beta-amyloid 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

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

Genomics for DOCK3 Gene

Regulatory Elements for DOCK3 Gene

Genomic Location for DOCK3 Gene

Start:
50,675,241 bp from pter
End:
51,384,198 bp from pter
Size:
708,958 bases
Orientation:
Plus strand

Genomic View for DOCK3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for DOCK3 Gene at MOPED

Post-translational modifications for DOCK3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DOCK3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for DOCK3 Gene

Domains for DOCK3 Gene

Protein Domains for DOCK3 Gene

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 :
  • Q8IZD9
Domain:
  • The DHR-2 domain may mediate some GEF activity.
  • Contains 1 DHR-1 domain.
  • Contains 1 DHR-2 domain.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the DOCK family.
genes like me logo Genes that share domains with DOCK3: view

No data available for Gene Families for DOCK3 Gene

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 beta-amyloid 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 Ontology (GO) - Molecular Function for DOCK3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005488 binding --
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

miRNA for DOCK3 Gene

miRTarBase miRNAs that target DOCK3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for DOCK3 Gene

Localization for DOCK3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOCK3 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DOCK3 Gene COMPARTMENTS Subcellular localization image for DOCK3 gene
Compartment Confidence
cytosol 4
plasma membrane 3
cytoskeleton 1
endoplasmic reticulum 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DOCK3 Gene

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

Pathways for DOCK3 Gene

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

Pathways by source for DOCK3 Gene

2 Qiagen pathways for DOCK3 Gene
1 BioSystems pathway 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:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with DOCK3: view

Compounds for DOCK3 Gene

(3) HMDB Compounds for DOCK3 Gene

Compound Synonyms Cas Number PubMed IDs
Guanosine diphosphate
  • 5'-GDP
146-91-8
Guanosine monophosphate
  • 5'-GMP
85-32-5
Guanosine triphosphate
  • 5'-GTP
86-01-1
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:

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 for DOCK3 Gene

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

This gene is overexpressed in Brain - Cortex (5.0) and Brain - Frontal Cortex (BA9) (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DOCK3 Gene

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.
genes like me logo Genes that share expressions with DOCK3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 99.54 (n)
  • 99.46 (a)
DOCK3 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DOCK3 36
  • 98 (a)
OneToOne
LOC524692 35
  • 92.59 (n)
  • 98.32 (a)
dog
(Canis familiaris)
Mammalia DOCK3 35
  • 94.22 (n)
  • 98.92 (a)
DOCK3 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dock3 35
  • 91.61 (n)
  • 98.13 (a)
Dock3 16
Dock3 36
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOCK3 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK3 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dock3 35
  • 91.53 (n)
  • 98.23 (a)
chicken
(Gallus gallus)
Aves DOCK3 35
  • 82.13 (n)
  • 92.26 (a)
DOCK3 36
  • 92 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DOCK3 36
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock3 35
  • 72.91 (n)
  • 78.34 (a)
zebrafish
(Danio rerio)
Actinopterygii dock3 35
  • 75.95 (n)
  • 85.71 (a)
dock3 36
  • 81 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004507 35
  • 51.81 (n)
  • 43.16 (a)
fruit fly
(Drosophila melanogaster)
Insecta spg 35
  • 53.2 (n)
  • 45.15 (a)
spg 36
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ced-5 36
  • 25 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 17 (a)
OneToMany
-- 38
Species with no ortholog for DOCK3:
  • 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

Selected 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 Sequence Context AA Info Type MAF
rs751075 -- 51,339,869(-) TTGCA(A/G)TAGCG intron-variant
rs751076 -- 51,339,743(-) GGAAC(A/G)ATGGC intron-variant
rs751308 -- 51,333,769(+) GGTCG(G/T)GGCCA intron-variant
rs768916 -- 50,838,728(+) CCTGT(G/T)GATTC intron-variant
rs880477 -- 51,340,220(+) GAGTG(A/C)TAAGC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv508919 CNV Insertion 20534489
nsv237212 CNV Loss 16902084
esv269530 CNV Insertion 20981092
esv272249 CNV Insertion 20981092
nsv7353 OTHER Inversion 18451855
nsv10271 CNV Gain 18304495
nsv233 OTHER Inversion 15895083
nsv436704 OTHER Inversion 17901297
dgv32n50 OTHER Inversion 21212237
dgv38n47 OTHER Inversion 21111241
esv1007941 OTHER Inversion 20482838
esv1533992 OTHER Inversion 17803354
nsv435958 OTHER Inversion 17901297
nsv10274 CNV Gain 18304495
nsv234 OTHER Inversion 15895083
esv2677693 CNV Deletion 23128226
esv24412 CNV Loss 19812545
esv2668021 CNV Deletion 23128226
esv2661872 CNV Deletion 23128226
esv1442923 CNV Insertion 17803354
esv1655991 CNV Insertion 17803354
esv24311 CNV Loss 19812545
esv2659536 CNV Deletion 23128226
esv2725259 CNV Deletion 23290073
esv24946 CNV Gain 19812545
esv2678842 CNV Deletion 23128226
nsv822089 CNV Loss 20364138
nsv876779 CNV Loss 21882294

Relevant External Links for DOCK3 Gene

HapMap Linkage Disequilibrium report
DOCK3
Human Gene Mutation Database (HGMD)
DOCK3

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

Disorders for DOCK3 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for DOCK3 Gene including...

Search for DOCK3 Gene in MalaCards »

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.

(1) Novoseek inferred disease relationships for DOCK3 Gene

Disease -log(P) Hits PubMed IDs
alzheimers disease 25.2 1

Relevant External Links for DOCK3

Genetic Association Database (GAD)
DOCK3
Human Genome Epidemiology (HuGE) Navigator
DOCK3
genes like me logo Genes that share disorders with DOCK3: view

Publications for DOCK3 Gene

  1. Presenilin binding protein is associated with neurofibrillary alterations in Alzheimer's disease and stimulates tau phosphorylation. (PMID: 11696419) Chen Q. … Masliah E. (Am. J. Pathol. 2001) 3 4 23
  2. 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 Res. 1997) 2 3 4
  3. 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 M.G. … Forrest S. (J. Med. Genet. 2003) 3 4 48
  4. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PMID: 19058789) de Krom M. … van Ree J.M. (Biol. Psychiatry 2009) 3 48
  5. Candidate gene analysis in an on-going genome-wide association study of attention-deficit hyperactivity disorder: suggestive association signals in ADRA1A. (PMID: 19352218) Elia J. … Hakonarson H. (Psychiatr. Genet. 2009) 3 48

Products for DOCK3 Gene

Sources for DOCK3 Gene

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