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] See more...

Aliases for DOCK7 Gene

Aliases for DOCK7 Gene

  • Dedicator Of Cytokinesis 7 2 3 5
  • Dedicator Of Cytokinesis Protein 7 3 4
  • 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. Gene Ontology (GO) annotations related to this gene include binding and Rac GTPase binding. An important paralog of this gene is DOCK6.

UniProtKB/Swiss-Prot Summary 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). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). 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

Additional gene information for DOCK7 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DOCK7 Gene

Genomics for DOCK7 Gene

GeneHancer (GH) Regulatory Elements for DOCK7 Gene

Promoters and enhancers for DOCK7 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J062686 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 520.4 -0.7 -668 6.1 FOXK2 EP300 ZSCAN5C TCF12 POLR2G NCOR1 GTF2E2 PHF8 PHB2 FOS DOCK7 ATG4C ENSG00000235545 ITGB3BP USP1 piR-59769-017
GH01J062435 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 19.3 +250.7 250690 5.1 ZBTB40 EP300 SIN3A NRF1 TCF12 MYC POLR2G SP1 BCLAF1 GTF2E2 USP1 lnc-DOCK7-8 KANK4 DOCK7 ATG4C piR-37663-001
GH01J062356 Enhancer 1.2 FANTOM5 Ensembl ENCODE 22 +333.7 333686 5.8 RBAK ZNF623 TRIM28 ZNF510 ZEB1 OSR2 ZNF266 WT1 ZBTB17 ZNF184 USP1 ENSG00000271200 TM2D1 DOCK7 KANK4 RNU6-371P HSALNG0004061 piR-50443-019
GH01J063522 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 10 -834.9 -834942 3.1 EP300 FOXK2 ZBTB40 ZNF217 ZSCAN5C SIN3A NRF1 MYC TCF12 USF1 ITGB3BP EFCAB7 ALG6 DLEU2L ROR1 FOXD3-AS1 FOXD3 ENSG00000235545 ATG4C DOCK7
GH01J062538 Enhancer 0.9 Ensembl ENCODE 20.5 +150.1 150066 3 HDAC3 NCOR1 ZNF592 TAL1 STAT5A HDAC2 FOXM1 EP400 TCF12 GATA2 DOCK7 ANGPTL3 PATJ ENSG00000270549 lnc-ANGPTL3-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DOCK7 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DOCK7

Genomic Locations for DOCK7 Gene

Genomic Locations for DOCK7 Gene
chr1:62,454,298-62,688,386
(GRCh38/hg38)
Size:
234,089 bases
Orientation:
Minus strand
chr1:62,920,397-63,153,969
(GRCh37/hg19)
Size:
233,573 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:
    • Component of the DOCK7-induced septin displacement/DISP complex, at least composed of DOCK7, LRCH3 and MYO6 (PubMed:29467281). Interacts with TSC1. Interacts with nucleotide-free RAC1 and RAC3. Interacts with TACC3 and CRY1 (By similarity). Interacts with NOD2 (PubMed:27812135).
    SequenceCaution:
    • Sequence=AAH16392.2; Type=Frameshift; Evidence={ECO:0000305}; Sequence=ABC33725.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB70933.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAB71042.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAC86032.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for DOCK7 Gene

    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

Gene Families for DOCK7 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for DOCK7 Gene

Blocks:
  • Dedicator of cytokinesis
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DOCK7 Gene

GenScript: Design optimal peptide antigens:
  • DOCK7 protein (A4FU72_HUMAN)
  • Dedicator of cytokinesis protein 7 (DOCK7_HUMAN)
  • cDNA FLJ78567 (Q96NI0_HUMAN)

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

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). As part of the DISP complex, may regulate the association of septins with actin and thereby regulate the actin cytoskeleton (PubMed:29467281). 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).

Phenotypes From GWAS Catalog for DOCK7 Gene

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:0005515 protein binding IPI 27812135
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

miRNA for DOCK7 Gene

miRTarBase miRNAs that target DOCK7

Clone 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
cytoskeleton 2
nucleus 2
plasma membrane 1
extracellular 1
mitochondrion 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for DOCK7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005925 focal adhesion HDA 21423176
GO:0008180 colocalizes_with COP9 signalosome IDA 18850735
GO:0030424 axon TAS 16982419
GO:0030426 growth cone TAS 16982419
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with DOCK7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for DOCK7 Gene

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

mRNA/cDNA for DOCK7 Gene

7 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
37 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone 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

Expression for DOCK7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for DOCK7 Gene



Protein tissue co-expression partners for DOCK7 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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

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 31
  • 99 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DOCK7 31 30
  • 94.08 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DOCK7 31 30
  • 93.97 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK7 31
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOCK7 31
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dock7 17 31 30
  • 89.8 (n)
rat
(Rattus norvegicus)
Mammalia Dock7 30
  • 88.15 (n)
chicken
(Gallus gallus)
Aves DOCK7 31 30
  • 82.31 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DOCK7 31
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock6 30
  • 79.55 (n)
zebrafish
(Danio rerio)
Actinopterygii dock7 31 30
  • 75.71 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Zir 30
  • 54.95 (n)
CG11376 31
  • 50 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010192 30
  • 54.54 (n)
worm
(Caenorhabditis elegans)
Secernentea F46H5.4 31 30
  • 46.6 (n)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons SPK1 30
  • 42.85 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for DOCK7: view image

Paralogs for DOCK7 Gene

Paralogs for DOCK7 Gene

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

  • DOCK7_HUMAN
  • A4FU72_HUMAN
  • H0Y7L2_HUMAN
  • L8EAM1_HUMAN
  • Q96NI0_HUMAN
genes like me logo Genes that share paralogs with DOCK7: view

Variants for DOCK7 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DOCK7 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
638877 Uncertain Significance: Epileptic encephalopathy, early infantile, 23 62,513,466(-) C/A SYNONYMOUS_VARIANT,INTRON_VARIANT
640279 Uncertain Significance: Epileptic encephalopathy, early infantile, 23 62,538,036(-) G/A MISSENSE_VARIANT
641303 Uncertain Significance: Epileptic encephalopathy, early infantile, 23 62,539,771(-) A/G MISSENSE_VARIANT
641400 Uncertain Significance: Epileptic encephalopathy, early infantile, 23 62,654,074(-) C/T MISSENSE_VARIANT
641502 Uncertain Significance: Epileptic encephalopathy, early infantile, 23 62,647,742(-) A/G MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for DOCK7 Gene

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)

Additional Variant Information for DOCK7 Gene

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

SNP Genotyping and Copy Number Assay Products

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, GTR, Orphanet, DISEASES, and GeneCards

- 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.

Additional Disease Information for DOCK7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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) Côté JF … Vuori K (Journal of cell science 2002) 2 3 4 54
  2. The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics. (PMID: 29467281) O'Loughlin T … Buss F (EMBO reports 2018) 3 4 54
  3. Characterization and Genetic Analyses of New Genes Coding for NOD2 Interacting Proteins. (PMID: 27812135) Thiébaut R … Ollendorff V (PloS one 2016) 3 4 54
  4. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. (PMID: 24814191) Perrault I … Michaud JL (American journal of human genetics 2014) 3 4 54
  5. Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J … Ripatti S (Nature genetics 2012) 3 41 54

Products for DOCK7 Gene

Sources for DOCK7 Gene