Free for academic non-profit institutions. Other users need a Commercial license

Aliases for DOCK7 Gene

Aliases for DOCK7 Gene

  • Dedicator Of Cytokinesis 7 2 3 5
  • 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 Platelet activation, signaling and aggregation and Translation Insulin regulation of translation. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around DOCK7 on UCSC Golden Path with GeneCards custom track

Genomic Location for DOCK7 Gene

Chromosome:
1
Start:
62,454,726 bp from pter
End:
62,688,368 bp from pter
Size:
233,643 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

Proteomics data for DOCK7 Gene at MOPED

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.
  • Contains 1 DHR-1 domain.
  • Contains 1 DHR-2 domain.
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).
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

miRNA for DOCK7 Gene

miRTarBase miRNAs that target DOCK7

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for DOCK7 Gene COMPARTMENTS Subcellular localization image for DOCK7 gene
Compartment Confidence
cytosol 3
nucleus 2
cytoskeleton 1
extracellular 1
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DOCK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008180 colocalizes_with COP9 signalosome IDA 18850735
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

Pathways by source for DOCK7 Gene

1 BioSystems pathway for DOCK7 Gene

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:0007409 axonogenesis IMP 16982419
GO:0031175 neuron projection development IMP 16982419
GO:0033138 positive regulation of peptidyl-serine phosphorylation 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:

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 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, MOPED, and MaxQB for DOCK7 Gene



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.
genes like me logo Genes that share expression patterns with DOCK7: view

Protein tissue co-expression partners for DOCK7 Gene

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
cow
(Bos Taurus)
Mammalia DOCK7 35
  • 93.97 (n)
  • 98.77 (a)
DOCK7 36
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DOCK7 35
  • 94.08 (n)
  • 98.95 (a)
DOCK7 36
  • 97 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dock7 35
  • 89.8 (n)
  • 98.05 (a)
Dock7 16
Dock7 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dock7 35
  • 88.15 (n)
  • 96.27 (a)
oppossum
(Monodelphis domestica)
Mammalia DOCK7 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK7 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DOCK7 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves DOCK7 35
  • 82.31 (n)
  • 96.17 (a)
DOCK7 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DOCK7 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock6 35
  • 79.55 (n)
  • 92.9 (a)
zebrafish
(Danio rerio)
Actinopterygii dock7 35
  • 75.71 (n)
  • 89.78 (a)
dock7 36
  • 88 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010192 35
  • 54.54 (n)
  • 51.95 (a)
fruit fly
(Drosophila melanogaster)
Insecta Zir 35
  • 54.95 (n)
  • 52.26 (a)
CG11376 36
  • 50 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F46H5.4 35
  • 46.6 (n)
  • 35.82 (a)
F46H5.4 36
  • 32 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SPK1 35
  • 42.85 (n)
  • 29.84 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 49 (a)
OneToMany
Species with no ortholog for DOCK7:
  • 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
rs35400360 - 62,555,950(-) ATCAA(C/T)TATAA reference, missense
rs13455 -- 62,455,332(+) CATTC(A/C)ATGTT utr-variant-3-prime
rs636497 -- 62,454,358(-) TGCAG(C/T)TTACA downstream-variant-500B
rs636523 -- 62,454,337(-) ATTTA(C/T)AATCC downstream-variant-500B
rs624660 -- 62,454,717(-) TAGTA(G/T)TAAGA downstream-variant-500B

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

Variant ID Type Subtype PubMed ID
nsv870559 CNV Loss 21882294
esv2553332 CNV Deletion 19546169
esv2408644 CNV Deletion 18987734
esv5210 CNV Deletion 18987735
esv2749018 CNV Deletion 23290073
esv1006212 CNV Deletion 20482838
esv1250656 CNV Deletion 17803354
esv5823 CNV Loss 19470904
nsv159028 CNV Loss 16902084

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

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

Disorders for DOCK7 Gene

MalaCards: The human disease database

(5) 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
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
  • epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
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 67
  2. Proximity biotinylation and affinity purification are complementary approaches for the interactome mapping of chromatin-associated protein complexes. (PMID: 25281560) Lambert J.P. … Gingras A.C. (J Proteomics 2015) 3
  3. Genetic loci associated with circulating levels of very long-chain saturated fatty acids. (PMID: 25378659) Lemaitre R.N. … Friedlander Y. (J. Lipid Res. 2015) 3
  4. Interactions of the Antiviral Factor Interferon Gamma-Inducible Protein 16 (IFI16) Mediate Immune Signaling and Herpes Simplex Virus-1 Immunosuppression. (PMID: 25693804) Diner B.A. … Cristea I.M. (Mol. Cell Proteomics 2015) 3
  5. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3

Products for DOCK7 Gene

Sources for DOCK7 Gene

Content