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Aliases for DOCK4 Gene

Aliases for DOCK4 Gene

  • Dedicator Of Cytokinesis 4 2 3 5
  • KIAA0716 4

External Ids for DOCK4 Gene

Previous GeneCards Identifiers for DOCK4 Gene

  • GC07M109849
  • GC07M110912
  • GC07M110926
  • GC07M110928
  • GC07M110960
  • GC07M111153
  • GC07M111366
  • GC07M105734

Summaries for DOCK4 Gene

Entrez Gene Summary for DOCK4 Gene

  • This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for DOCK4 Gene

DOCK4 (Dedicator Of Cytokinesis 4) is a Protein Coding gene. Diseases associated with DOCK4 include Reading Disorder and Deafness, Autosomal Dominant 2A. Among its related pathways are Ras signaling pathway and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include GTPase activator activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK3.

UniProtKB/Swiss-Prot for DOCK4 Gene

  • Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP.

Gene Wiki entry for DOCK4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOCK4 Gene

Genomics for DOCK4 Gene

Regulatory Elements for DOCK4 Gene

Enhancers for DOCK4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G112079 1.8 FANTOM5 Ensembl ENCODE dbSUPER 16.4 +125.3 125287 3.0 FOXA2 SIN3A RAD21 RFX5 EGR1 GATA2 ZNF143 RCOR1 FOS ETV6 DOCK4 IFRD1 ZNF277 GC07M112041 GC07M112180
GH07G112421 1.6 FANTOM5 Ensembl ENCODE 14.3 -216.6 -216562 2.7 HDGF ARID4B SIN3A DMAP1 SLC30A9 ZNF766 FOS ZHX2 SMARCB1 ZNF592 IFRD1 DOCK4 LINC00998 ZNF277 GC07P112424
GH07G112056 1 FANTOM5 dbSUPER 15.8 +149.9 149924 0.4 CEBPB JUNB FEZF1 EBF1 RELA PRDM6 POLR2A SMARCA4 IKZF1 BCL6 DOCK4 IFRD1 ZNF277 GC07M112041 GC07M112180
GH07G111986 1.2 FANTOM5 Ensembl ENCODE 13.1 +219.0 219028 1.6 FOXA2 JUND GATA2 JUN CEBPB FOS FOXA1 DOCK4 ZNF277 IFRD1 RPL7AP42 GC07P112024
GH07G112103 0.7 FANTOM5 22.4 +103.1 103087 0.5 OSR2 FOXA2 FOXA3 REST FOXA1 DOCK4 ZNF277 IFRD1 GC07M112041 GC07M112180
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DOCK4 on UCSC Golden Path with GeneCards custom track

Promoters for DOCK4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000216834 711 3801 HDGF FOXA2 CREB3L1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143

Genomic Location for DOCK4 Gene

Chromosome:
7
Start:
111,726,108 bp from pter
End:
112,206,411 bp from pter
Size:
480,304 bases
Orientation:
Minus strand

Genomic View for DOCK4 Gene

Genes around DOCK4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOCK4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOCK4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOCK4 Gene

Proteins for DOCK4 Gene

  • Protein details for DOCK4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N1I0-DOCK4_HUMAN
    Recommended name:
    Dedicator of cytokinesis protein 4
    Protein Accession:
    Q8N1I0
    Secondary Accessions:
    • O14584
    • O94824
    • Q8NB45

    Protein attributes for DOCK4 Gene

    Size:
    1966 amino acids
    Molecular mass:
    225206 Da
    Quaternary structure:
    • Interacts with the SH3 domain of CRK. Interacts with nucleotide-free Rap1. Interacts with FASLG. Interacts with ELMO2 and EPHA2; mediates activation of RAC1 by EPHA2.
    Miscellaneous:
    • Injection of wild-type protein suppresses tumor invasion in osteosarcoma mouse cell lines while it is not the case with the Leu-1718 variant.
    SequenceCaution:
    • Sequence=BAC03696.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DOCK4 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DOCK4 Gene

Post-translational modifications for DOCK4 Gene

  • Ubiquitination at Lys101
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for DOCK4 Gene

Domains & Families for DOCK4 Gene

Protein Domains for DOCK4 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N1I0

UniProtKB/Swiss-Prot:

DOCK4_HUMAN :
  • The DHR-2 domain probably mediates the GEF activity.
  • Belongs to the DOCK family.
Domain:
  • The DHR-2 domain probably mediates the GEF activity.
Family:
  • Belongs to the DOCK family.
genes like me logo Genes that share domains with DOCK4: view

No data available for Gene Families for DOCK4 Gene

Function for DOCK4 Gene

Molecular function for DOCK4 Gene

UniProtKB/Swiss-Prot Function:
Involved in regulation of adherens junction between cells. Plays a role in cell migration. Functions as a guanine nucleotide exchange factor (GEF), which activates Rap1 small GTPase by exchanging bound GDP for free GTP.

Gene Ontology (GO) - Molecular Function for DOCK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0005096 GTPase activator activity IDA 16464467
GO:0005515 protein binding IPI 16464467
GO:0017124 SH3 domain binding IEA --
GO:0030165 PDZ domain binding IPI 16464467
genes like me logo Genes that share ontologies with DOCK4: view
genes like me logo Genes that share phenotypes with DOCK4: view

Animal Models for DOCK4 Gene

MGI Knock Outs for DOCK4:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for DOCK4 Gene

Localization for DOCK4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOCK4 Gene

Cell membrane. Cell projection. Cytoplasm, cytosol. Note=Colocalizes with EPHA2, RhoG and CTTN/cortactin at the tip of protrusions in migrating cells. {ECO:0000269 PubMed:20679435}.

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 DOCK4 gene
Compartment Confidence
nucleus 5
cytosol 5
golgi apparatus 5
plasma membrane 4
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for DOCK4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IDA --
GO:0005829 cytosol IDA 20679435
genes like me logo Genes that share ontologies with DOCK4: view

Pathways & Interactions for DOCK4 Gene

genes like me logo Genes that share pathways with DOCK4: view

Pathways by source for DOCK4 Gene

1 KEGG pathway for DOCK4 Gene

Gene Ontology (GO) - Biological Process for DOCK4 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 --
GO:0060326 cell chemotaxis IMP 20679435
GO:1904694 negative regulation of vascular smooth muscle contraction IMP 22158624
GO:1904754 positive regulation of vascular associated smooth muscle cell migration IMP 22158624
genes like me logo Genes that share ontologies with DOCK4: view

No data available for SIGNOR curated interactions for DOCK4 Gene

Drugs & Compounds for DOCK4 Gene

(3) Drugs for DOCK4 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 DOCK4: view

Transcripts for DOCK4 Gene

Unigene Clusters for DOCK4 Gene

Dedicator of cytokinesis 4:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOCK4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
SP1:
SP2:
SP3:

ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47a · 47b ^ 48 ^ 49 ^ 50 ^
SP1: - -
SP2: - -
SP3:

ExUns: 51 ^ 52a · 52b · 52c
SP1:
SP2:
SP3:

Relevant External Links for DOCK4 Gene

GeneLoc Exon Structure for
DOCK4
ECgene alternative splicing isoforms for
DOCK4

Expression for DOCK4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DOCK4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for DOCK4 Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x4.1).

Protein differential expression in normal tissues from HIPED for DOCK4 Gene

This gene is overexpressed in Cervix (25.1) and Heart (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DOCK4 Gene



Protein tissue co-expression partners for DOCK4 Gene

NURSA nuclear receptor signaling pathways regulating expression of DOCK4 Gene:

DOCK4

SOURCE GeneReport for Unigene cluster for DOCK4 Gene:

Hs.654652

mRNA Expression by UniProt/SwissProt for DOCK4 Gene:

Q8N1I0-DOCK4_HUMAN
Tissue specificity: Widely expressed at low level. Highly expressed in skeletal muscle, prostate and ovary.

Evidence on tissue expression from TISSUES for DOCK4 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Kidney(4.1)
genes like me logo Genes that share expression patterns with DOCK4: view

Primer Products

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for DOCK4 Gene

Orthologs for DOCK4 Gene

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

Orthologs for DOCK4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOCK4 34 35
  • 99.71 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 99 (a)
OneToMany
-- 35
  • 97 (a)
OneToMany
-- 35
  • 93 (a)
OneToMany
-- 35
  • 91 (a)
OneToMany
-- 35
  • 89 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia DOCK4 35
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DOCK4 34 35
  • 93 (n)
dog
(Canis familiaris)
Mammalia DOCK4 34 35
  • 92.12 (n)
mouse
(Mus musculus)
Mammalia Dock4 34 16 35
  • 90.25 (n)
chicken
(Gallus gallus)
Aves DOCK4 34 35
  • 83 (n)
lizard
(Anolis carolinensis)
Reptilia DOCK4 35
  • 88 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock4 34
  • 78.83 (n)
zebrafish
(Danio rerio)
Actinopterygii DOCK4 (2 of 2) 35
  • 73 (a)
OneToMany
dock4b 34 35
  • 72.54 (n)
fruit fly
(Drosophila melanogaster)
Insecta spg 35
  • 36 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ced-5 35
  • 23 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 35
  • 16 (a)
OneToMany
Species where no ortholog for DOCK4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • rat (Rattus norvegicus)
  • 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 DOCK4 Gene

ENSEMBL:
Gene Tree for DOCK4 (if available)
TreeFam:
Gene Tree for DOCK4 (if available)

Paralogs for DOCK4 Gene

Paralogs for DOCK4 Gene

genes like me logo Genes that share paralogs with DOCK4: view

Variants for DOCK4 Gene

Sequence variations from dbSNP and Humsavar for DOCK4 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs1000001236 -- 112,097,582(+) TTCCA(C/T)GGGCC intron-variant
rs1000004683 -- 111,850,033(+) TTTCT(C/T)ATGCA intron-variant
rs1000006741 -- 111,922,145(+) CTGAA(C/G)AAGTG intron-variant
rs1000028308 -- 112,042,203(+) CAAGG(C/T)GACAG intron-variant
rs1000030397 -- 111,792,016(+) AAAGG(C/T)ATGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DOCK4 Gene

Variant ID Type Subtype PubMed ID
dgv3646n106 CNV deletion 24896259
dgv6586n100 CNV loss 25217958
esv2422365 CNV duplication 17116639
esv2621161 CNV deletion 19546169
esv2662534 CNV deletion 23128226
esv2670440 CNV deletion 23128226
esv2735036 CNV deletion 23290073
esv2735037 CNV deletion 23290073
esv2735038 CNV deletion 23290073
esv2735039 CNV deletion 23290073
esv2761111 CNV loss 21179565
esv2764041 CNV gain+loss 21179565
esv3349349 CNV insertion 20981092
esv3542283 CNV deletion 23714750
esv3572068 CNV loss 25503493
esv3576417 CNV gain 25503493
esv3614614 CNV loss 21293372
esv3614615 CNV loss 21293372
esv3891190 CNV loss 25118596
esv3891191 CNV loss 25118596
esv9335 CNV loss 19470904
nsv1137281 CNV deletion 24896259
nsv464689 CNV gain 19166990
nsv473731 CNV novel sequence insertion 20440878
nsv477464 CNV novel sequence insertion 20440878
nsv479325 CNV novel sequence insertion 20440878
nsv516034 CNV loss 19592680
nsv5901 CNV deletion 18451855
nsv608196 CNV loss 21841781
nsv608200 CNV gain 21841781
nsv608215 CNV loss 21841781
nsv608226 CNV gain 21841781
nsv824270 CNV loss 20364138
nsv956027 CNV deletion 24416366
nsv966876 CNV duplication 23825009
nsv966877 CNV duplication 23825009

Variation tolerance for DOCK4 Gene

Residual Variation Intolerance Score: 5.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DOCK4 Gene

Human Gene Mutation Database (HGMD)
DOCK4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOCK4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOCK4 Gene

Disorders for DOCK4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DOCK4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
reading disorder
  • dyslexia
deafness, autosomal dominant 2a
  • autosomal dominant nonsyndromic deafness 2a
intraductal papilloma
  • ductal papilloma
lactose intolerance
  • lm - lactose malabsorption
usher syndrome, type 1c
  • usher syndrome type 1c
- elite association - COSMIC cancer census association via MalaCards
Search DOCK4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for DOCK4

Genetic Association Database (GAD)
DOCK4
Human Genome Epidemiology (HuGE) Navigator
DOCK4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DOCK4
genes like me logo Genes that share disorders with DOCK4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DOCK4 Gene

Publications for DOCK4 Gene

  1. DOCK4, a GTPase activator, is disrupted during tumorigenesis. (PMID: 12628187) Yajnik V. … Haber D.A. (Cell 2003) 2 3 4 64
  2. Identification of an evolutionarily conserved superfamily of DOCK180- related proteins with guanine nucleotide exchange activity. (PMID: 12432077) Cote J.-F. … Vuori K. (J. Cell Sci. 2002) 2 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility. (PMID: 19401682) Maestrini E. … Monaco A.P. (Mol. Psychiatry 2010) 3 46 64
  5. Characterization of a family with rare deletions in CNTNAP5 and DOCK4 suggests novel risk loci for autism and dyslexia. (PMID: 20346443) Pagnamenta A.T. … Monaco A.P. (Biol. Psychiatry 2010) 3 46 64

Products for DOCK4 Gene

Sources for DOCK4 Gene

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