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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 an... See more...
Aliases for DOCK6 Gene
Aliases for DOCK6 Gene
External Ids for DOCK6 Gene
- HGNC: 19189
- Entrez Gene: 57572
- Ensembl: ENSG00000130158
- OMIM: 614194
- UniProtKB: Q96HP0
Previous GeneCards Identifiers for DOCK6 Gene
- GC19U900290
- GC19M011171
- GC19M011309
- GC19M010887
Summaries 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 Regulation of CDC42 activity and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include guanyl-nucleotide exchange factor activity. An important paralog of this gene is DOCK7.
UniProtKB/Swiss-Prot Summary 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).
Additional gene information for DOCK6 Gene
- HGNC(19189)
- Entrez Gene(57572)
- Ensembl(ENSG00000130158)
- OMIM(614194)
- UniProtKB(Q96HP0)
- Open Targets Platform(ENSG00000130158)
- Monarch Initiative
- Search for DOCK6 at DataMed
- Search for DOCK6 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DOCK6 Gene
Genomics for DOCK6 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for DOCK6 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around DOCK6 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DOCK6
- Top Transcription factor binding sites by QIAGEN in the DOCK6 gene promoter:
-
- AP-4
- Bach1
- C/EBPalpha
- E47
- Max1
- MyoD
- NF-kappaB
- NF-kappaB1
- RREB-1
- Tal-1
Genomic Locations for DOCK6 Gene
Genomic Locations for DOCK6 Gene
- chr19:11,199,295-11,262,524
- (GRCh38/hg38)
- Size:
- 63,230 bases
- Orientation:
- Minus strand
- chr19:11,309,971-11,373,157
- (GRCh37/hg19)
- Size:
- 63,187 bases
- Orientation:
- Minus strand
Genomic View for DOCK6 Gene
Genes around DOCK6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.2 by HGNC
- 19p13.2 by Entrez Gene
- 19p13.2 by Ensembl
DOCK6 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAA92633.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
Protein Expression for DOCK6 Gene
Post-translational modifications for DOCK6 Gene
Other Protein References for DOCK6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-DOCK6 polyclonal antibody
- Novus Biologicals Antibodies for DOCK6
- Invitrogen Antibodies for DOCK6 (AFLGC-DOCK6)
- antibodies-online: Show 11 available DOCK6 Antibodies ranked by validation data
- Compare Top DOCK6 Antibodies
-
Quality Products:
Protein Products
-
OriGene Purified Proteins for DOCK6
- Search Origene for MassSpec and Protein Over-expression Lysates for DOCK6
- Origene Custom Protein Services for DOCK6
- Novus Biologicals proteins for DOCK6
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
- InterPro:
- Blocks:
-
- Dedicator of cytokinesis
- ProtoNet:
Suggested Antigen Peptide Sequences for DOCK6 Gene
- GenScript: Design optimal peptide antigens:
-
- Dedicator of cytokinesis protein 6 (DOCK6_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96HP0UniProtKB/Swiss-Prot:
DOCK6_HUMAN :- The DOCKER domain may mediate some GEF activity.
- Belongs to the DOCK family.
- Domain:
-
- The DOCKER domain may mediate some GEF activity.
- Family:
-
- Belongs to the DOCK family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
Phenotypes for DOCK6 Gene
- MGI mutant phenotypes for DOCK6:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for DOCK6:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DOCK6 - Select products 50% OFF >
- * DOCK6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DOCK6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DOCK6
-
Santa Cruz Biotechnology (SCBT) CRISPR for DOCK6
miRNA for DOCK6 Gene
- miRTarBase miRNAs that target DOCK6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DOCK6
- Browse OriGene Inhibitory RNA Products For DOCK6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DOCK6
Clone Products
- Applied Biological Materials (abm): Clones for DOCK6 - Select products 50% OFF >
- * DOCK6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for DOCK6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DOCK6
Cell Line Products
-
Horizon Cell Lines for DOCK6
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.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| nucleus | 3 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Cytosol (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA,TAS | -- |
| GO:0048471 | perinuclear region of cytoplasm | IEA | -- |
Pathways & Interactions for DOCK6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Factors involved in megakaryocyte development and platelet production | ||
| 2 | Response to elevated platelet cytosolic Ca2+ |
.44
|
|
| 3 | G-protein signaling_Regulation of CDC42 activity |
G-protein signaling_Regulation of CDC42 activity
-
|
|
| 4 | Regulation of CDC42 activity | ||
| 5 | Regulation of RAC1 activity | ||
Pathways by source for DOCK6 Gene
2 BioSystems pathways for DOCK6 Gene
2 Reactome pathways for DOCK6 Gene
1 GeneGo (Thomson Reuters) pathway for DOCK6 Gene
- G-protein signaling_Regulation of CDC42 activity
Interacting Proteins for DOCK6 Gene
Selected Interacting proteins:
Q96HP0-DOCK6_HUMAN
ENSP00000294618
for DOCK6 Gene via
UniProtKB
STRING
IID
| Symbol | External ID(s) | Details |
|---|---|---|
| CRLF3 | ||
| DOCK7 | ||
| DOCK8 | ||
| ENSG00000272822 | ||
| KIF7 |
GPS-Prot Interaction Network for DOCK6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007264 | small GTPase mediated signal transduction | IEA | -- |
| GO:0007596 | blood coagulation | TAS | -- |
No data available for SIGNOR curated interactions for DOCK6 Gene
Transcripts for DOCK6 Gene
mRNA/cDNA for DOCK6 Gene
- 2 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000586702 1249 nts (view in UCSC)
- ENST00000294618 6430 nts (view in UCSC)
- ENST00000587734 312 nts (view in UCSC)
- ENST00000587656 4009 nts (view in UCSC)
- ENST00000588666 444 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for DOCK6 - Select products 50% OFF >
- * DOCK6 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for DOCK6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DOCK6
-
Santa Cruz Biotechnology (SCBT) CRISPR for DOCK6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DOCK6
- Browse OriGene Inhibitory RNA Products For DOCK6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DOCK6
Clone Products
- Applied Biological Materials (abm): Clones for DOCK6 - Select products 50% OFF >
- * DOCK6 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for DOCK6
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DOCK6
| 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
Expression for DOCK6 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Kidney (Urinary System)
- Juxtaglomerular Cells Afferent Arteriole
-
Smooth Muscle (Muscoskeletal System)
- Juxtaglomerular Cells Afferent Arteriole
-
Placenta (Extraembryonic Tissues)
- Primordial Germ Cells Allantois
-
Gonad
- Primordial Germ Cells Allantois
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, MaxQB, and MOPED for DOCK6 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DOCK6
SOURCE GeneReport for Unigene cluster for DOCK6 Gene:
Hs.591002mRNA 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(4.5)
- Kidney(4.4)
- Liver(4.4)
- Spleen(4.4)
- Skin(2.7)
- Intestine(2.2)
- Heart(2.1)
- Blood(2.1)
- Lung(2.1)
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
Regions:
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
Primer Products
-
OriGene qPCR primer pairs for DOCK6
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DOCK6 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DOCK6 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DOCK6 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dock6 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Dock6 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | DOCK6 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DOCK6 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DOCK6 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dock7 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | DOCK6 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG11376 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | F46H5.4 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for DOCK6 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for DOCK6: view image
Paralogs for DOCK6 Gene
Paralogs for DOCK6 Gene
(8) SIMAP similar genes for DOCK6 Gene using alignment to 7 proteins:
- DOCK6_HUMAN
- C9IZV6_HUMAN
- K7EKT0_HUMAN
- K7EP20_HUMAN
- K7EP51_HUMAN
- K7ERK2_HUMAN
- K7ESB7_HUMAN
Variants for DOCK6 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DOCK6 Gene
| SNP ID | Clinical significance and condition | Chr 19 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 31128 | Pathogenic: Adams-Oliver syndrome 2 | 11,243,569(-) | C/CA | NONSENSE | |
| 650992 | Likely Pathogenic: not provided | 11,243,884(-) | T/A | SPLICE_ACCEPTOR_VARIANT | |
| 708615 | Likely Benign: not provided | 11,215,478(-) | C/T | INTRON_VARIANT | |
| 708964 | Likely Benign: not provided | 11,252,143(-) | G/A | SYNONYMOUS_VARIANT | |
| 709958 | Benign: not provided | 11,213,188(-) | G/A | SYNONYMOUS_VARIANT |
| 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 |
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)
Additional Variant Information for DOCK6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOCK6 Gene
Disorders for DOCK6 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| adams-oliver syndrome 2 |
|
|
| adams-oliver syndrome |
|
|
| oliver syndrome |
|
|
| adams-oliver syndrome 1 |
|
|
| aortic valve disease 1 |
|
|
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.
Additional Disease Information for DOCK6
- Genetic Association Database
- (GAD)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for DOCK6 Gene
Publications for DOCK6 Gene
- 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
- 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
- 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 41
- Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich TM … Kathiresan S (Nature 2010) 3 41
- 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
ExternalLinks
Products for DOCK6 Gene
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- Invitrogen Antibodies for DOCK6 (AFLGC-DOCK6)
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- antibodies-online: Show 11 available DOCK6 Antibodies ranked by validation data
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Sources for DOCK6 Gene
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