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Aliases for DOCK7 Gene

Aliases for DOCK7 Gene

  • Dedicator Of Cytokinesis 7 2 3
  • 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 early onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome. Among its related pathways are Hemostasis and Factors involved in megakaryocyte development and platelet production. GO annotations related to this gene include guanyl-nucleotide exchange factor activity 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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DOCK7 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DOCK7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOCK7 Gene

No data available for Regulatory Elements 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

Other Protein References for DOCK7 Gene

No data available for DME Specific Peptides for DOCK7 Gene

Domains 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 :
  • Q96N67
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).

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:0005488 binding --
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

Animal Model Products

CRISPR Products

miRNA for DOCK7 Gene

miRTarBase miRNAs that target DOCK7

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DOCK7

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
mitochondrion 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for DOCK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
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
GO:0043005 neuron projection TAS 16982419
genes like me logo Genes that share ontologies with DOCK7: view

Pathways 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

Gene Ontology (GO) - Biological Process for DOCK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 16982419
GO:0002244 hematopoietic progenitor cell differentiation IEA --
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007409 axonogenesis IMP 16982419
GO:0022027 interkinetic nuclear migration ISS --
genes like me logo Genes that share ontologies with DOCK7: view

Compounds for DOCK7 Gene

(3) HMDB Compounds for DOCK7 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 DOCK7: view

Transcripts for DOCK7 Gene

Unigene Clusters for DOCK7 Gene

Dedicator of cytokinesis 7:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DOCK7

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for DOCK7

Flow Cytometry 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 for DOCK7 Gene

Integrated Proteomics: protein expression 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 expressions with DOCK7: view

In Situ Assay 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 36
  • 99 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia DOCK7 36
  • 92 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK7 36
  • 93 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dock7 35
  • 88.15 (n)
  • 96.27 (a)
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 CG11376 36
  • 50 (a)
OneToMany
Zir 35
  • 54.95 (n)
  • 52.26 (a)
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

Selected 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 MAF
rs13455 -- 62,455,332(+) CATTC(A/C)ATGTT utr-variant-3-prime
rs624660 -- 62,454,717(-) TAGTA(G/T)TAAGA downstream-variant-500B
rs634341 -- 62,455,751(-) TTCCT(A/G)AAATC intron-variant
rs636497 -- 62,454,358(-) TGCAG(C/T)TTACA downstream-variant-500B
rs636523 -- 62,454,337(-) ATTTA(C/T)AATCC 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

Relevant External Links for DOCK7 Gene

HapMap Linkage Disequilibrium report
DOCK7
Human Gene Mutation Database (HGMD)
DOCK7

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

Disorders for DOCK7 Gene

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

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
  2. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 11214970) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  4. Phosphorylation and binding partner analysis of the TSC1-TSC2 complex. (PMID: 15963462) Nellist M. … Luider T.M. (Biochem. Biophys. Res. Commun. 2005) 3 4
  5. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory S.G. … Bentley D.R. (Nature 2006) 3 4

Products for DOCK7 Gene

Sources for DOCK7 Gene

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