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Aliases for DOCK6 Gene

Aliases for DOCK6 Gene

  • Dedicator Of Cytokinesis 6 2 3
  • KIAA1395 4 6
  • AOS2 3 6
  • Dedicator Of Cytokinesis Protein 6 3
  • ZIR1 3

External Ids for DOCK6 Gene

Previous GeneCards Identifiers for DOCK6 Gene

  • GC19U900290
  • GC19M011171
  • GC19M011309
  • GC19M010887

Summaries for DOCK6 Gene

Entrez Gene Summary for DOCK6 Gene

  • This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]

GeneCards Summary for DOCK6 Gene

DOCK6 (Dedicator Of Cytokinesis 6) is a Protein Coding gene. Diseases associated with DOCK6 include adams-oliver syndrome 2 and adams-oliver syndrome. Among its related pathways are G-protein signaling_Regulation of CDC42 activity and Hemostasis. GO annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK11.

UniProtKB/Swiss-Prot for DOCK6 Gene

  • Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity).

Gene Wiki entry for DOCK6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DOCK6 Gene

Genomics for DOCK6 Gene

Regulatory Elements for DOCK6 Gene

Genomic Location for DOCK6 Gene

Start:
11,199,293 bp from pter
End:
11,262,492 bp from pter
Size:
63,200 bases
Orientation:
Minus strand

Genomic View for DOCK6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DOCK6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DOCK6 Gene

Proteins for DOCK6 Gene

  • Protein details for DOCK6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96HP0-DOCK6_HUMAN
    Recommended name:
    Dedicator of cytokinesis protein 6
    Protein Accession:
    Q96HP0
    Secondary Accessions:
    • A6H8X5
    • Q7Z7P4
    • Q9P2F2

    Protein attributes for DOCK6 Gene

    Size:
    2047 amino acids
    Molecular mass:
    229558 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH08335.2; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA92633.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for DOCK6 Gene

Proteomics data for DOCK6 Gene at MOPED

Post-translational modifications for DOCK6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DOCK6 Gene

No data available for DME Specific Peptides for DOCK6 Gene

Domains for DOCK6 Gene

Protein Domains for DOCK6 Gene

Suggested Antigen Peptide Sequences for DOCK6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96HP0

UniProtKB/Swiss-Prot:

DOCK6_HUMAN :
  • Q96HP0
Domain:
  • The DHR-2 domain may mediate some 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 DOCK6: view

No data available for Gene Families for DOCK6 Gene

Function for DOCK6 Gene

Molecular function for DOCK6 Gene

UniProtKB/Swiss-Prot Function: Acts as guanine nucleotide exchange factor (GEF) for CDC42 and RAC1 small GTPases. Through its activation of CDC42 and RAC1, may regulate neurite outgrowth (By similarity).

Gene Ontology (GO) - Molecular Function for DOCK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 guanyl-nucleotide exchange factor activity IEA --
genes like me logo Genes that share ontologies with DOCK6: view

Phenotypes for DOCK6 Gene

GenomeRNAi human phenotypes for DOCK6:
genes like me logo Genes that share phenotypes with DOCK6: view

miRNA for DOCK6 Gene

miRTarBase miRNAs that target DOCK6

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for DOCK6 Gene

Localization for DOCK6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DOCK6 Gene

Cytoplasm. Cytoplasm, perinuclear region. Note=Mainly located near the cell surface.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DOCK6 Gene COMPARTMENTS Subcellular localization image for DOCK6 gene
Compartment Confidence
cytosol 4
nucleus 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for DOCK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005829 cytosol TAS --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with DOCK6: view

Pathways for DOCK6 Gene

genes like me logo Genes that share pathways with DOCK6: view

Pathways by source for DOCK6 Gene

1 GeneGo (Thomson Reuters) pathway for DOCK6 Gene

Interacting Proteins for DOCK6 Gene

Gene Ontology (GO) - Biological Process for DOCK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007264 small GTPase mediated signal transduction IEA --
GO:0007596 blood coagulation TAS --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with DOCK6: view

Compounds for DOCK6 Gene

(3) HMDB Compounds for DOCK6 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 DOCK6: view

Transcripts for DOCK6 Gene

Unigene Clusters for DOCK6 Gene

Dedicator of cytokinesis 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for DOCK6 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^
SP1:
SP2: - -
SP3:
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

ExUns: 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34a · 34b ^ 35
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:

Relevant External Links for DOCK6 Gene

GeneLoc Exon Structure for
DOCK6
ECgene alternative splicing isoforms for
DOCK6

Expression for DOCK6 Gene

mRNA expression in normal human tissues for DOCK6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DOCK6 Gene

SOURCE GeneReport for Unigene cluster for DOCK6 Gene Hs.591002

mRNA Expression by UniProt/SwissProt for DOCK6 Gene

Q96HP0-DOCK6_HUMAN
Tissue specificity: Widely expressed. Expressed at low level in spleen, cerebellum, hippocampus and in substantia nigra.
genes like me logo Genes that share expressions with DOCK6: view

No data available for mRNA differential expression in normal tissues for DOCK6 Gene

Orthologs for DOCK6 Gene

This gene was present in the common ancestor of animals.

Orthologs for DOCK6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DOCK6 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DOCK6 35
  • 88.98 (n)
  • 94.82 (a)
DOCK6 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DOCK6 35
  • 88.87 (n)
  • 94.54 (a)
DOCK6 36
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dock6 35
  • 84.7 (n)
  • 91.72 (a)
Dock6 16
Dock6 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DOCK6 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK6 36
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dock6 35
  • 85.04 (n)
  • 92.19 (a)
lizard
(Anolis carolinensis)
Reptilia DOCK6 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock7 35
  • 68.67 (n)
  • 71.42 (a)
zebrafish
(Danio rerio)
Actinopterygii DOCK6 36
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11376 36
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F46H5.4 36
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for DOCK6:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for DOCK6 Gene

ENSEMBL:
Gene Tree for DOCK6 (if available)
TreeFam:
Gene Tree for DOCK6 (if available)

Paralogs for DOCK6 Gene

Paralogs for DOCK6 Gene

genes like me logo Genes that share paralogs with DOCK6: view

Variants for DOCK6 Gene

Sequence variations from dbSNP and Humsavar for DOCK6 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs8409 -- 11,208,815(-) TCCAA(C/T)GTGCT reference, synonymous-codon
rs396460 -- 11,264,240(-) ACCCC(A/G)TCTCT upstream-variant-2KB
rs416231 -- 11,263,999(-) TGCCA(A/G)CAACC upstream-variant-2KB
rs737337 -- 11,236,817(+) ACGGC(C/T)GTGAG reference, synonymous-codon
rs737338 -- 11,236,981(+) TAGCC(C/T)GGTCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DOCK6 Gene

Variant ID Type Subtype PubMed ID
dgv3730n71 CNV Loss 21882294
nsv911059 CNV Loss 21882294
nsv911060 CNV Loss 21882294
nsv522449 CNV Loss 19592680
nsv525977 CNV Loss 19592680
nsv833752 CNV Loss 17160897
esv28707 CNV Gain 19812545
esv2718174 CNV Deletion 23290073
esv2718175 CNV Deletion 23290073
esv2718176 CNV Deletion 23290073
esv2718177 CNV Deletion 23290073
nsv523678 CNV Loss 19592680
nsv519802 CNV Loss 19592680
nsv911061 CNV Loss 21882294

Relevant External Links for DOCK6 Gene

HapMap Linkage Disequilibrium report
DOCK6
Human Gene Mutation Database (HGMD)
DOCK6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOCK6 Gene

Disorders for DOCK6 Gene

(1) OMIM Diseases for DOCK6 Gene (614194)

UniProtKB/Swiss-Prot

DOCK6_HUMAN
  • Adams-Oliver syndrome 2 (AOS2) [MIM:614219]: A disorder characterized by the congenital absence of skin (aplasia cutis congenita) in combination with transverse limb defects. Aplasia cutis congenita can be located anywhere on the body, but in the vast majority of the cases, it is present on the posterior parietal region where it is often associated with an underlying defect of the parietal bones. Limb abnormalities are typically limb truncation defects affecting the distal phalanges or entire digits (true ectrodactyly). Only rarely, metatarsals/metacarpals or more proximal limb structures are also affected. Apart from transverse limb defects, syndactyly, most commonly of second and third toes, can also be observed. The clinical features are highly variable and can also include cardiovascular malformations, brain abnormalities and vascular defects such as cutis marmorata and dilated scalp veins. {ECO:0000269 PubMed:21820096}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for DOCK6 Gene

Relevant External Links for DOCK6

Genetic Association Database (GAD)
DOCK6
genes like me logo Genes that share disorders with DOCK6: view

Publications for DOCK6 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. 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
  3. Dock6, a Dock-C subfamily guanine nucleotide exchanger, has the dual specificity for Rac1 and Cdc42 and regulates neurite outgrowth. (PMID: 17196961) Miyamoto Y. … Tanoue A. (Exp. Cell Res. 2007) 3 4
  4. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 48
  5. Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project. (PMID: 21347282) Lettre G. … Boerwinkle E. (PLoS Genet. 2011) 3 48

Products for DOCK6 Gene

Sources for DOCK6 Gene

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