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Aliases for DOCK6 Gene

Aliases for DOCK6 Gene

  • Dedicator Of Cytokinesis 6 2 3 5
  • Dedicator Of Cytokinesis Protein 6 3
  • KIAA1395 4
  • AOS2 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 Response to elevated platelet cytosolic Ca2+ and G-protein signaling_Regulation of CDC42 activity. GO annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK7.

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

Additional gene information for DOCK6 Gene

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

Genomics for DOCK6 Gene

Regulatory Elements for DOCK6 Gene

Enhancers for DOCK6 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
GH19H011478 1.8 FANTOM5 Ensembl ENCODE 13.8 -219.1 -219125 5 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF416 ILF3 ZNF627 ZNF136 KRI1 TIMM29 ZNF844 ENSG00000242615 ZNF441 ZNF44 ZNF625
GH19H010717 1.7 FANTOM5 ENCODE dbSUPER 13.8 +543.3 543346 3 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 ZBTB7B YY1 KRI1 EIF3G ILF3 FBXL12 RAVER1 TIMM29 PPAN QTRT1 ZNF627 CNN1
GH19H010564 1.7 FANTOM5 ENCODE dbSUPER 13.7 +695.1 695109 5 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 KRI1 CDKN2D ILF3 PPAN ZNF627 FBXL12 DOCK6 LOC100419831 DNMT1 TIMM29
GH19H010285 1.6 Ensembl ENCODE dbSUPER 13.7 +972.8 972810 7 HNRNPUL1 HDGF PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF143 ILF3 ZNF266 ZNF699 KRI1 ZNF559 LOC100419831 FBXL12 RAVER1 ZNF561 EIF3G
GH19H011202 1.4 Ensembl ENCODE dbSUPER 12.7 +58.8 58792 3 KLF17 RAD21 RARA GATA2 ZNF143 FOS RUNX3 SMARCA5 USF2 ZEB2 ANGPTL8 DOCK6 KANK2 LOC105372273 GC19P011210
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DOCK6 on UCSC Golden Path with GeneCards custom track

Promoters for DOCK6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107159 401 1801 ATF1 PTBP1 RB1 ZBTB7B GTF3C2 GLIS2 EGR1 SCRT2 ZNF143 ZNF207

Genomic Location for DOCK6 Gene

Chromosome:
19
Start:
11,199,293 bp from pter
End:
11,262,501 bp from pter
Size:
63,209 bases
Orientation:
Minus strand

Genomic View for DOCK6 Gene

Genes around DOCK6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DOCK6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for DOCK6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DOCK6 Gene

Domains & Families for DOCK6 Gene

Gene Families for DOCK6 Gene

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

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 :
  • The DHR-2 domain may mediate some GEF activity.
  • Belongs to the DOCK family.
Domain:
  • The DHR-2 domain may mediate some GEF activity.
Family:
  • Belongs to the DOCK family.
genes like me logo Genes that share domains with DOCK6: view

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).

Phenotypes From GWAS Catalog for DOCK6 Gene

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

Human Phenotype Ontology for DOCK6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for DOCK6 Gene

miRTarBase miRNAs that target DOCK6

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DOCK6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
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 DOCK6 gene
Compartment Confidence
cytosol 5
nucleus 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for DOCK6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS,IDA --
GO:0048471 perinuclear region of cytoplasm IEA --
genes like me logo Genes that share ontologies with DOCK6: view

Pathways & Interactions 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

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

No data available for SIGNOR curated interactions for DOCK6 Gene

Drugs & Compounds for DOCK6 Gene

(3) Drugs for DOCK6 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 DOCK6: view

Transcripts for DOCK6 Gene

Unigene Clusters for DOCK6 Gene

Dedicator of cytokinesis 6:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for DOCK6
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for DOCK6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DOCK6 Gene

This gene is overexpressed in Esophagus (22.4), Placenta (15.9), and Peripheral blood mononuclear cells (14.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DOCK6 Gene



NURSA nuclear receptor signaling pathways regulating expression of DOCK6 Gene:

DOCK6

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.

Evidence on tissue expression from TISSUES for DOCK6 Gene

  • Nervous system(4.3)
  • Kidney(4.2)
  • Liver(4.2)
  • Spleen(4.2)
  • Skin(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DOCK6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • scalp
  • skull
Thorax:
  • aorta
  • breast
  • chest wall
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • sternum
Abdomen:
  • abdominal wall
Pelvis:
  • placenta
  • uterus
Limb:
  • ankle
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with DOCK6: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein tissue co-expression partners 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 34
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DOCK6 33 34
  • 88.98 (n)
dog
(Canis familiaris)
Mammalia DOCK6 33 34
  • 88.87 (n)
rat
(Rattus norvegicus)
Mammalia Dock6 33
  • 85.04 (n)
mouse
(Mus musculus)
Mammalia Dock6 33 16 34
  • 84.7 (n)
oppossum
(Monodelphis domestica)
Mammalia DOCK6 34
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DOCK6 34
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DOCK6 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dock7 33
  • 68.67 (n)
zebrafish
(Danio rerio)
Actinopterygii DOCK6 34
  • 69 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG11376 34
  • 47 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F46H5.4 34
  • 31 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToMany
Species where no ortholog for DOCK6 was found in the sources mined by GeneCards:
  • 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
rs201387914 Pathogenic 11,200,714(+) CGCCT(A/G)CTTCT splice-donor-variant
rs397509398 Pathogenic 11,235,631(-) CCTTT(-/T)CGCCT nc-transcript-variant, reference, frameshift-variant
rs397509399 Pathogenic 11,214,650(-) TTCCA(C/G)GACCA intron-variant, splice-acceptor-variant
rs767983548 Pathogenic 11,214,558(+) TGCAC(-/GAT/GATG)GATGA intron-variant, reference, frameshift-variant, cds-indel
rs774877657 Pathogenic 11,222,821(+) GTGCT(C/T)GTGGC nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv3427n100 CNV gain 25217958
esv2718174 CNV deletion 23290073
esv2718175 CNV deletion 23290073
esv2718176 CNV deletion 23290073
esv2718177 CNV deletion 23290073
esv28707 CNV gain 19812545
nsv1060605 CNV gain 25217958
nsv1065030 CNV gain 25217958
nsv1072324 CNV deletion 25765185
nsv1127653 CNV deletion 24896259
nsv477048 CNV novel sequence insertion 20440878
nsv519802 CNV loss 19592680
nsv522449 CNV loss 19592680
nsv523678 CNV loss 19592680
nsv525977 CNV loss 19592680
nsv578613 CNV gain 21841781
nsv578614 CNV loss 21841781
nsv833752 CNV loss 17160897

Variation tolerance for DOCK6 Gene

Residual Variation Intolerance Score: 88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.11; 84.56% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DOCK6 Gene

Human Gene Mutation Database (HGMD)
DOCK6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DOCK6

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

Disorders for DOCK6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for DOCK6 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
adams-oliver syndrome 2
  • aos2
adams-oliver syndrome
  • adams oliver syndrome
oliver syndrome
  • postaxial polydactyly mental retardation
aplasia cutis congenita
  • aplasia cutis congenita nonsyndromic
telangiectasis
  • telangiectasia
- elite association - COSMIC cancer census association via MalaCards
Search DOCK6 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for DOCK6

Genetic Association Database (GAD)
DOCK6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DOCK6
genes like me logo Genes that share disorders with DOCK6: view

No data available for Genatlas for DOCK6 Gene

Publications for DOCK6 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 60
  2. Recessive mutations in DOCK6, encoding the guanidine nucleotide exchange factor DOCK6, lead to abnormal actin cytoskeleton organization and Adams-Oliver syndrome. (PMID: 21820096) Shaheen R … Alkuraya FS (American journal of human genetics 2011) 3 4 60
  3. 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 genetics 2011) 3 45 60
  4. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 45 60
  5. 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 (Experimental cell research 2007) 3 4 60

Products for DOCK6 Gene

Sources for DOCK6 Gene

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