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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
External Ids for DOCK7 Gene
- HGNC: 19190
- NCBI Entrez Gene: 85440
- Ensembl: ENSG00000116641
- OMIM®: 615730
- UniProtKB/Swiss-Prot: Q96N67
Previous GeneCards Identifiers for DOCK7 Gene
- GC01U900915
- GC01M062291
- GC01M062632
- GC01M062692
- GC01M062920
- GC01M061032
Summaries 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 Developmental And Epileptic Encephalopathy 23 and Cortical Blindness. Among its related pathways are Signaling by GPCR and Response to elevated platelet cytosolic Ca2+. 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).
Additional gene information for DOCK7 Gene
- HGNC (19190)
- NCBI Entrez Gene (85440)
- Ensembl (ENSG00000116641)
- OMIM® (615730)
- UniProtKB/Swiss-Prot (Q96N67)
- Open Targets Platform(ENSG00000116641)
- Monarch Initiative
- Search for DOCK7 at DataMed
- Search for DOCK7 at HumanCyc
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 Pubs
Promoters and enhancers for DOCK7 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 DOCK7 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DOCK7
Genomic Locations for DOCK7 Gene
Latest Assembly
- chr1:62,454,298-62,688,386
- (GRCh38/hg38)
- Size:
- 234,089 bases
- Orientation:
- Minus strand
Previous Assembly
- chr1:62,920,397-63,154,057
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 233,661 bases
- Orientation:
- Minus strand
- chr1:62,920,399-63,153,969
- (GRCh37/hg19 by Ensembl)
- Size:
- 233,571 bases
- Orientation:
- Minus strand
Genomic View for DOCK7 Gene
Genes around DOCK7 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p31.3 by HGNC
- 1p31.3 by Entrez Gene
- 1p31.3 by Ensembl
DOCK7 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 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
- 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};
Protein Expression for DOCK7 Gene
Post-translational modifications for DOCK7 Gene
Other Protein References for DOCK7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ DOCK7 Antibody and Immunotag™ DOCK7 Polyclonal Antibody
- Novus Biologicals Antibodies for DOCK7
-
Abcam antibodies for DOCK7
- Invitrogen Antibodies for DOCK7 (AFLGC-DOCK7)
-
Biorbyt antibodies for DOCK7
-
Boster Bio Antibodies for DOCK7
-
Custom Antibody ServicesProSci Antibodies for DOCK7
-
Santa Cruz Biotechnology (SCBT) Antibodies for DOCK7
Protein products for research
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for DOCK7
- Origene Custom Protein Services for DOCK7
- Novus Biologicals proteins for DOCK7
-
Abcam proteins for DOCK7
Assay products for research
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
- InterPro:
- Blocks:
-
- Dedicator of cytokinesis
- 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
Q96N67UniProtKB/Swiss-Prot:
DOCK7_HUMAN :- The DOCKER domain mediates GEF activity.
- Belongs to the DOCK family.
- Domain:
-
- The DOCKER domain mediates GEF activity.
- Family:
-
- Belongs to the DOCK family.
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005085 | guanyl-nucleotide exchange factor activity | IEA | -- |
| GO:0005515 | protein binding | IPI | 24255178 |
| GO:0031267 | small GTPase binding | IDA | 16982419 |
Phenotypes for DOCK7 Gene
- MGI mutant phenotypes for DOCK7:
-
inferred from 2 alleles
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- hematopoietic system phenotype
- vision/eye phenotype
- limbs/digits/tail phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- pigmentation phenotype
- adipose tissue phenotype
- GenomeRNAi human phenotypes for DOCK7:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DOCK7 - Starting at $85 >
- * DOCK7 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DOCK7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DOCK7
-
Santa Cruz Biotechnology (SCBT) CRISPR for DOCK7
miRNA for DOCK7 Gene
- miRTarBase miRNAs that target DOCK7
-
- hsa-miR-30a-5p (MIRT005202)
- hsa-miR-21-5p (MIRT006315)
- hsa-miR-1307-3p (MIRT035812)
- hsa-miR-6083 (MIRT504808)
- hsa-miR-3924 (MIRT504809)
- hsa-miR-297 (MIRT504810)
- hsa-miR-190a-3p (MIRT504811)
- hsa-miR-6867-5p (MIRT504812)
- hsa-miR-223-5p (MIRT504813)
- hsa-miR-567 (MIRT504814)
- hsa-miR-511-3p (MIRT504815)
- hsa-miR-5011-5p (MIRT504816)
- hsa-miR-5584-3p (MIRT504817)
- hsa-miR-4699-3p (MIRT532182)
- hsa-miR-5585-3p (MIRT532183)
- hsa-miR-210-3p (MIRT574255)
- hsa-let-7g-3p (MIRT574256)
- hsa-let-7a-2-3p (MIRT574257)
- hsa-miR-3177-5p (MIRT574258)
- hsa-miR-3682-3p (MIRT574259)
- hsa-miR-1245b-3p (MIRT574260)
- hsa-miR-5683 (MIRT574261)
- hsa-miR-665 (MIRT650188)
- hsa-miR-887-5p (MIRT650189)
- hsa-miR-6780a-5p (MIRT650190)
- hsa-miR-6779-5p (MIRT650191)
- hsa-miR-3689c (MIRT650192)
- hsa-miR-3689b-3p (MIRT650193)
- hsa-miR-3689a-3p (MIRT650194)
- hsa-miR-30b-3p (MIRT650195)
- hsa-miR-1273h-5p (MIRT650196)
- hsa-miR-6788-5p (MIRT650197)
- hsa-miR-30c-2-3p (MIRT650198)
- hsa-miR-30c-1-3p (MIRT650199)
- hsa-miR-7977 (MIRT650200)
- hsa-miR-6799-5p (MIRT650201)
- hsa-miR-6883-5p (MIRT650202)
- hsa-miR-6785-5p (MIRT650203)
- hsa-miR-4728-5p (MIRT650204)
- hsa-miR-149-3p (MIRT650205)
- hsa-miR-7106-5p (MIRT650206)
- hsa-miR-7703 (MIRT696404)
- hsa-miR-6720-5p (MIRT696405)
- hsa-miR-6512-3p (MIRT696406)
- hsa-miR-196a-3p (MIRT696407)
- hsa-miR-4252 (MIRT696408)
- hsa-miR-6499-3p (MIRT696409)
- hsa-miR-4537 (MIRT696410)
- hsa-miR-5186 (MIRT696411)
- hsa-miR-6860 (MIRT696412)
- hsa-miR-612 (MIRT696413)
- hsa-miR-5189-5p (MIRT696414)
- hsa-miR-3187-5p (MIRT696415)
- hsa-miR-1285-3p (MIRT696416)
- hsa-miR-4793-3p (MIRT696417)
- hsa-miR-766-3p (MIRT696418)
- hsa-miR-939-3p (MIRT696419)
- hsa-miR-6849-3p (MIRT696420)
- hsa-miR-1273g-3p (MIRT696421)
- hsa-miR-759 (MIRT696422)
- hsa-miR-5586-3p (MIRT696423)
- hsa-miR-508-5p (MIRT696424)
- hsa-miR-4797-5p (MIRT696425)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DOCK7
- Browse OriGene Inhibitory RNA Products For DOCK7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DOCK7
Clone products for research
- Applied Biological Materials (abm): Clones for DOCK7 - Starting at $45 >
- * DOCK7 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DOCK7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DOCK7
Cell Lines for research
-
Horizon Cell Lines for DOCK7
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.
| Compartment | Confidence |
|---|---|
| cytosol | 3 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| extracellular | 1 |
| mitochondrion | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for DOCK7 Gene
Pathways & Interactions for DOCK7 Gene
Pathways by source for DOCK7 Gene
1 BioSystems pathway for DOCK7 Gene
6 Reactome pathways for DOCK7 Gene
Interacting Proteins for DOCK7 Gene
Selected Interacting proteins:
Q96N67-DOCK7_HUMAN
ENSP00000251157
for DOCK7 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for DOCK7
| 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 |
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 :
-
- ENST00000251157 7084 nts (view in UCSC)
- ENST00000340370 6731 nts (view in UCSC)
- ENST00000404627 2678 nts (view in UCSC)
- ENST00000454575 6985 nts (view in UCSC)
- ENST00000464312 519 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for DOCK7 - Starting at $85 >
- * DOCK7 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for DOCK7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for DOCK7
-
Santa Cruz Biotechnology (SCBT) CRISPR for DOCK7
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for DOCK7
- Browse OriGene Inhibitory RNA Products For DOCK7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DOCK7
Clone products for research
- Applied Biological Materials (abm): Clones for DOCK7 - Starting at $45 >
- * DOCK7 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for DOCK7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for DOCK7
Relevant External Links for DOCK7 Gene
- GeneLoc Exon Structure for
- DOCK7
Expression 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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DOCK7
SOURCE GeneReport for Unigene cluster for DOCK7 Gene:
Hs.744927mRNA 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(4.8)
- Kidney(4.4)
- Liver(4.4)
- Blood(4.4)
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
Primer products for research
-
OriGene qPCR primer pairs for DOCK7
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | DOCK7 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | DOCK7 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | DOCK7 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | DOCK7 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | DOCK7 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Dock7 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Dock7 30 |
|
||
| Chicken (Gallus gallus) |
Aves | DOCK7 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | DOCK7 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | dock6 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | dock7 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | Zir 30 |
|
||
| CG11376 31 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010192 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | F46H5.4 30 31 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | SPK1 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for DOCK7 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
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 |
|---|---|---|---|---|---|
| 834171 | Uncertain Significance: Epileptic encephalopathy, early infantile, 23 | 62,552,785(-) |
A/T NM_001367561.1(DOCK7):c.2713T>A (p.Ser905Thr) |
MISSENSE | |
| 834176 | Uncertain Significance: Epileptic encephalopathy, early infantile, 23 | 62,552,751(-) |
C/T NM_001367561.1(DOCK7):c.2747G>A (p.Arg916Gln) |
MISSENSE | |
| 834762 | Uncertain Significance: Epileptic encephalopathy, early infantile, 23 | 62,528,207(-) |
C/T NM_001367561.1(DOCK7):c.3880G>A (p.Ala1294Thr) |
MISSENSE | |
| 835285 | Uncertain Significance: Epileptic encephalopathy, early infantile, 23 | 62,586,507(-) |
C/T NM_001367561.1(DOCK7):c.1800G>A (p.Pro600=) |
SYNONYMOUS | |
| 836157 | Uncertain Significance: Epileptic encephalopathy, early infantile, 23 | 62,544,951(-) |
G/A NM_001367561.1(DOCK7):c.2855C>T (p.Thr952Ile) |
MISSENSE_VARIANT,INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DOCK7 Gene
Disorders for DOCK7 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| developmental and epileptic encephalopathy 23 |
|
|
| cortical blindness |
|
|
| hypobetalipoproteinemia, familial, 2 |
|
|
| night blindness, congenital stationary, autosomal dominant 3 |
|
|
| visual cortex disease |
|
|
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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 variants affecting the gene represented in this entry.
Additional Disease Information for DOCK7
- Genetic Association Database
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No data available for Genatlas for DOCK7 Gene
Publications for DOCK7 Gene
- 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 74
- 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
- The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics. (PMID: 29467281) O'Loughlin T … Buss F (EMBO reports 2018) 3 4
- Characterization and Genetic Analyses of New Genes Coding for NOD2 Interacting Proteins. (PMID: 27812135) Thiébaut R … Ollendorff V (PloS one 2016) 3 4
- Genome-wide association study identifies multiple loci influencing human serum metabolite levels. (PMID: 22286219) Kettunen J … Ripatti S (Nature genetics 2012) 3 41
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