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Aliases for DOCK7 Gene

Aliases for DOCK7 Gene

  • Dedicator Of Cytokinesis 7 2 3 5
  • Dedicator Of Cytokinesis Protein 7 3
  • KIAA1771 4
  • EIEE23 3
  • ZIR2 3

External Ids for DOCK7 Gene

Previous GeneCards Identifiers for DOCK7 Gene

  • GC01U900915
  • GC01M062291
  • GC01M062632
  • GC01M062692
  • GC01M062920
  • GC01M061032

Summaries for DOCK7 Gene

Entrez Gene Summary for DOCK7 Gene

  • The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for DOCK7 Gene

DOCK7 (Dedicator Of Cytokinesis 7) is a Protein Coding gene. Diseases associated with DOCK7 include Epileptic Encephalopathy, Early Infantile, 23 and Cortical Blindness. Among its related pathways are Signaling by GPCR and MET promotes cell motility. GO annotations related to this gene include binding and Rac GTPase binding. An important paralog of this gene is DOCK6.

UniProtKB/Swiss-Prot for DOCK7 Gene

  • Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 Ser-15 phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity).

Gene Wiki entry for DOCK7 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOCK7 Gene

Genomics for DOCK7 Gene

Regulatory Elements for DOCK7 Gene

Enhancers for DOCK7 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
GH01G062435 1.7 Ensembl ENCODE dbSUPER 19.3 +250.6 250596 5.0 MLX CREB3L1 AGO1 YY1 SLC30A9 ZNF143 SP3 NFYC TBX21 MEF2D DOCK7 ATG4C USP1 ENSG00000270549
GH01G062686 1.4 ENCODE dbSUPER 20.4 -1.0 -1029 5.4 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT AGO1 ZFP64 ARID4B SIN3A DOCK7 ATG4C ENSG00000235545
GH01G062708 0.7 ENCODE 20.2 -19.3 -19258 0.0 PKNOX1 L3MBTL2 FEZF1 ZBTB8A ZIC2 ZNF843 HIC1 CTBP1 GATA3 GLIS1 DOCK7 ENSG00000235545 ATG4C
GH01G062724 0.9 Ensembl ENCODE 13 -36.9 -36925 2.0 SCRT1 CTCF RAD21 THRB RELA POLR2A IKZF1 SCRT2 POU5F1 RELB DOCK7 ENSG00000235545 ATG4C
GH01G062734 0.9 ENCODE 12.9 -45.8 -45758 0.9 ELF3 FOXA2 ATF1 MLX ARID4B RAD21 RARA YY1 CREM MIXL1 DOCK7 ATG4C ENSG00000235545
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DOCK7 on UCSC Golden Path with GeneCards custom track

Promoters for DOCK7 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000007651 68 2201 PKNOX1 ARNT CREB3L1 ARID4B SIN3A ZNF2 ZNF48 YY1 GLIS2 ZNF143

Genomic Location for DOCK7 Gene

Chromosome:
1
Start:
62,454,298 bp from pter
End:
62,688,368 bp from pter
Size:
234,071 bases
Orientation:
Minus strand

Genomic View for DOCK7 Gene

Genes around DOCK7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOCK7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DOCK7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOCK7 Gene

Proteins for DOCK7 Gene

  • Protein details for DOCK7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96N67-DOCK7_HUMAN
    Recommended name:
    Dedicator of cytokinesis protein 7
    Protein Accession:
    Q96N67
    Secondary Accessions:
    • Q00M63
    • Q2PPY7
    • Q45RE8
    • Q45RE9
    • Q5T1B9
    • Q5T1C0
    • Q6ZV32
    • Q8TB82
    • Q96NG6
    • Q96NI0
    • Q9C092

    Protein attributes for DOCK7 Gene

    Size:
    2140 amino acids
    Molecular mass:
    242561 Da
    Quaternary structure:
    • Interacts with TSC1. Interacts with nucleotide-free RAC1 and RAC3. Interacts with TACC3 and CRY1 (By similarity).
    SequenceCaution:
    • Sequence=AAH16392.2; Type=Frameshift; Positions=1337; Evidence={ECO:0000305}; Sequence=ABC33725.1; Type=Frameshift; Positions=911; Evidence={ECO:0000305}; Sequence=BAB70933.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB71042.1; Type=Frameshift; Positions=1792; Evidence={ECO:0000305}; Sequence=BAC86032.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for DOCK7 Gene

neXtProt entry for DOCK7 Gene

Post-translational modifications for DOCK7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DOCK7 Gene

Domains & Families for DOCK7 Gene

Protein Domains for DOCK7 Gene

Suggested Antigen Peptide Sequences for DOCK7 Gene

Graphical View of Domain Structure for InterPro Entry

Q96N67

UniProtKB/Swiss-Prot:

DOCK7_HUMAN :
  • The DHR-2 domain mediates GEF activity.
  • Belongs to the DOCK family.
Domain:
  • The DHR-2 domain mediates GEF activity.
Family:
  • Belongs to the DOCK family.
genes like me logo Genes that share domains with DOCK7: view

No data available for Gene Families for DOCK7 Gene

Function for DOCK7 Gene

Molecular function for DOCK7 Gene

UniProtKB/Swiss-Prot Function:
Functions as a guanine nucleotide exchange factor (GEF), which activates Rac1 and Rac3 Rho small GTPases by exchanging bound GDP for free GTP. Does not have a GEF activity for CDC42. Required for STMN1 Ser-15 phosphorylation during axon formation and consequently for neuronal polarization (PubMed:16982419). Has a role in pigmentation (By similarity). Involved in the regulation of cortical neurogenesis through the control of radial glial cells (RGCs) proliferation versus differentiation; negatively regulates the basal-to-apical interkinetic nuclear migration of RGCs by antagonizing the microtubule growth-promoting function of TACC3 (By similarity).

Gene Ontology (GO) - Molecular Function for DOCK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
GO:0048365 Rac GTPase binding IDA 16982419
genes like me logo Genes that share ontologies with DOCK7: view
genes like me logo Genes that share phenotypes with DOCK7: view

Human Phenotype Ontology for DOCK7 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for DOCK7 Gene

miRTarBase miRNAs that target DOCK7

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for DOCK7 Gene

Localization for DOCK7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOCK7 Gene

Cell projection, axon. Note=Enriched in the developing axons of hippocampal neurons.

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 DOCK7 gene
Compartment Confidence
cytosol 3
nucleus 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for DOCK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005925 focal adhesion IDA 21423176
GO:0008180 colocalizes_with COP9 signalosome IDA 18850735
GO:0030424 axon TAS 16982419
GO:0030426 growth cone TAS 16982419
genes like me logo Genes that share ontologies with DOCK7: view

Pathways & Interactions for DOCK7 Gene

genes like me logo Genes that share pathways with DOCK7: view

SIGNOR curated interactions for DOCK7 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for DOCK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 16982419
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007409 axonogenesis IMP 16982419
genes like me logo Genes that share ontologies with DOCK7: view

Drugs & Compounds for DOCK7 Gene

(3) Drugs for DOCK7 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 DOCK7: view

Transcripts for DOCK7 Gene

Unigene Clusters for DOCK7 Gene

Dedicator of cytokinesis 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DOCK7 Gene

No ASD Table

Relevant External Links for DOCK7 Gene

GeneLoc Exon Structure for
DOCK7
ECgene alternative splicing isoforms for
DOCK7

Expression for DOCK7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DOCK7 Gene

Protein differential expression in normal tissues from HIPED for DOCK7 Gene

This gene is overexpressed in Ovary (11.7), Testis (11.1), and Liver, secretome (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DOCK7 Gene



Protein tissue co-expression partners for DOCK7 Gene

NURSA nuclear receptor signaling pathways regulating expression of DOCK7 Gene:

DOCK7

SOURCE GeneReport for Unigene cluster for DOCK7 Gene:

Hs.744927

mRNA Expression by UniProt/SwissProt for DOCK7 Gene:

Q96N67-DOCK7_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for DOCK7 Gene

  • Nervous system(4.7)
  • Kidney(4.2)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DOCK7 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • nose
  • outer ear
  • scalp
  • skull
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with DOCK7: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DOCK7 Gene

Orthologs for DOCK7 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for DOCK7 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOCK7 35
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DOCK7 34 35
  • 94.08 (n)
cow
(Bos Taurus)
Mammalia DOCK7 34 35
  • 93.97 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK7 35
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOCK7 35
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dock7 34 16 35
  • 89.8 (n)
rat
(Rattus norvegicus)
Mammalia Dock7 34
  • 88.15 (n)
chicken
(Gallus gallus)
Aves DOCK7 34 35
  • 82.31 (n)
lizard
(Anolis carolinensis)
Reptilia DOCK7 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock6 34
  • 79.55 (n)
zebrafish
(Danio rerio)
Actinopterygii dock7 34 35
  • 75.71 (n)
fruit fly
(Drosophila melanogaster)
Insecta Zir 34
  • 54.95 (n)
CG11376 35
  • 50 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010192 34
  • 54.54 (n)
worm
(Caenorhabditis elegans)
Secernentea F46H5.4 34 35
  • 46.6 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons SPK1 34
  • 42.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 49 (a)
OneToMany
Species where no ortholog for DOCK7 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DOCK7 Gene

ENSEMBL:
Gene Tree for DOCK7 (if available)
TreeFam:
Gene Tree for DOCK7 (if available)

Paralogs for DOCK7 Gene

Paralogs for DOCK7 Gene

(8) SIMAP similar genes for DOCK7 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with DOCK7: view

Variants for DOCK7 Gene

Sequence variations from dbSNP and Humsavar for DOCK7 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs200785483 Pathogenic 62,597,951(+) TCCTA(A/G/T)AAGAA intron-variant, reference, missense, stop-gained
rs398122985 Pathogenic 62,604,236(+) TTCAG(G/T)TATCT intron-variant, splice-donor-variant
rs398122986 Pathogenic 62,597,621(+) CCAGA(-/A)TTGAT intron-variant, reference, frameshift-variant
rs398122987 Pathogenic 62,598,005(+) TAACT(-/AACT)TAATT intron-variant, reference, frameshift-variant
rs398122988 Pathogenic 62,597,929(+) CTCAA(-/CTCAA)AACTT intron-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for DOCK7 Gene

Variant ID Type Subtype PubMed ID
dgv94n106 CNV deletion 24896259
esv1006212 CNV deletion 20482838
esv1250656 CNV deletion 17803354
esv2408644 CNV deletion 18987734
esv2553332 CNV deletion 19546169
esv2749018 CNV deletion 23290073
esv2762146 CNV loss 21179565
esv2852124 CNV deletion 24192839
esv3563048 CNV deletion 23714750
esv5210 CNV loss 18987735
esv5823 CNV loss 19470904
nsv1000988 CNV loss 25217958
nsv1011203 CNV loss 25217958
nsv1014376 CNV loss 25217958
nsv1076485 CNV deletion 25765185
nsv1077363 CNV deletion 25765185
nsv1127003 CNV deletion 24896259
nsv1144381 CNV deletion 24896259
nsv1147481 CNV deletion 26484159
nsv159028 CNV deletion 16902084
nsv950775 CNV duplication 24416366
nsv958629 CNV deletion 24416366

Variation tolerance for DOCK7 Gene

Residual Variation Intolerance Score: 0.337% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.42; 63.82% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DOCK7 Gene

Human Gene Mutation Database (HGMD)
DOCK7
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOCK7

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOCK7 Gene

Disorders for DOCK7 Gene

MalaCards: The human disease database

(4) MalaCards diseases for DOCK7 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
epileptic encephalopathy, early infantile, 23
  • eiee23
cortical blindness
  • blindness, cortical
visual cortex disease
  • visual cortex dysfunction
visual pathway disease
  • disorder of visual pathways
- elite association - COSMIC cancer census association via MalaCards
Search DOCK7 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DOCK7_HUMAN
  • Epileptic encephalopathy, early infantile, 23 (EIEE23) [MIM:615859]: A severe disease characterized by early-onset intractable epilepsy, dysmorphic features, intellectual disability, and cortical blindness. Brain imaging shows an abnormally marked pontobulbar sulcus with mild pontine hypoplasia, white matter abnormalities, and atrophy in the occipital lobe. {ECO:0000269 PubMed:24814191}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DOCK7

Genetic Association Database (GAD)
DOCK7
Human Genome Epidemiology (HuGE) Navigator
DOCK7
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DOCK7
genes like me logo Genes that share disorders with DOCK7: view

No data available for Genatlas for DOCK7 Gene

Publications for DOCK7 Gene

  1. 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
  2. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. (PMID: 24814191) Perrault I. … Michaud J.L. (Am. J. Hum. Genet. 2014) 3 4 64
  3. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J. … Ripatti S. (Nat. Genet. 2012) 3 46 64
  4. 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
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64

Products for DOCK7 Gene

Sources for DOCK7 Gene

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