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DOCK7 dedicator of cytokinesis 7 [ Homo sapiens (human) ]

Gene ID: 85440, updated on 3-Apr-2024

Summary

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Official Symbol
DOCK7provided by HGNC
Official Full Name
dedicator of cytokinesis 7provided by HGNC
Primary source
HGNC:HGNC:19190
See related
Ensembl:ENSG00000116641 MIM:615730; AllianceGenome:HGNC:19190
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ZIR2; DEE23; EIEE23
Summary
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]
Expression
Ubiquitous expression in testis (RPKM 8.6), ovary (RPKM 6.0) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
1p31.3
Exon count:
53
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (62454726..62688386, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (62333313..62566591, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (62920397..63154057, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105378768 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62901187-62901954 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:62901955-62902722 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1118 Neighboring gene ubiquitin specific peptidase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:62946511-62947011 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:62996318-62996526 Neighboring gene angiopoietin like 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:63088457-63088957 Neighboring gene ribosomal protein L13a pseudogene 9 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:63135613-63136174 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:63140571-63141202 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 946 Neighboring gene Sharpr-MPRA regulatory region 4934 Neighboring gene DOCK7 divergent transcript Neighboring gene uncharacterized LOC124904194 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:63220743-63221288 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:63221289-63221835 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:63221836-63222381

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. DOCK7 protects against replication stress by promoting RPA stability on chromatin. Gao M, et al. Nucleic Acids Res, 2021 Apr 6. PMID 33704464, Free PMC Article
  2. Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy. Haberlandt E, et al. Mol Genet Genomic Med, 2021 Mar. PMID 33471954, Free PMC Article
  3. Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness. Perrault I, et al. Am J Hum Genet, 2014 Jun 5. PMID 24814191, Free PMC Article
  4. DOCK7-ANGPTL3 SNPs and their haplotypes with serum lipid levels and the risk of coronary artery disease and ischemic stroke. Li WJ, et al. Lipids Health Dis, 2018 Feb 17. PMID 29454388, Free PMC Article
  5. Guanine nucleotide exchange factor Dock7 mediates HGF-induced glioblastoma cell invasion via Rac activation. Murray DW, et al. Br J Cancer, 2014 Mar 4. PMID 24518591, Free PMC Article

See all (143) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Tumour-associated macrophage-derived DOCK7-enriched extracellular vesicles drive tumour metastasis in colorectal cancer via the RAC1/ABCA1 axis.
    Title: Tumour-associated macrophage-derived DOCK7-enriched extracellular vesicles drive tumour metastasis in colorectal cancer via the RAC1/ABCA1 axis.
  2. Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.
    Title: Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.
  3. DOCK7 protects against replication stress by promoting RPA stability on chromatin.
    Title: DOCK7 protects against replication stress by promoting RPA stability on chromatin.
  4. analysis of the crystal structure of the Cdc42-bound form of the DOCK7 DHR-2 domain of DOCK7 shows dual specificity for Rac1 and Cdc42
    Title: Structural Basis for the Dual Substrate Specificity of DOCK7 Guanine Nucleotide Exchange Factor.
  5. Nbeal2 interacts with Dock7, Sec16a, and Vac14.
    Title: Nbeal2 interacts with Dock7, Sec16a, and Vac14.
  6. these results suggest that the DOCK-ANGPTL3 SNPs and their haplotypes were associated with the angiographic severity to coronary artery atherosclerosis and the risk of coronary artery disease (CAD) and ischemic stroke in the Southern Chinese Han population.
    Title: DOCK7-ANGPTL3 SNPs and their haplotypes with serum lipid levels and the risk of coronary artery disease and ischemic stroke.
  7. Possible inter-locus interactions among the DOCK7, PCSK9 and GALNT2 SNPs were also noted.
    Title: Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.
  8. Differences in lipid profiles between the Jing and Han populations might partially attribute to the DOCK7, PCSK9 and GALNT2 gene polymorphisms and their haplotypes determining different risk for the development of cardiovascular diseases.
    Title: Association between the DOCK7, PCSK9 and GALNT2 Gene Polymorphisms and Serum Lipid levels.
  9. Interaction of myosin VI and its binding partner DOCK7 plays an important role in NGF-stimulated protrusion formation in PC12 cells.
    Title: Interaction of myosin VI and its binding partner DOCK7 plays an important role in NGF-stimulated protrusion formation in PC12 cells.
  10. These observations suggest that loss of DOCK7 function causes a syndromic form of epileptic encephalopathy by affecting multiple neuronal processes.
    Title: Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.
Submit: New GeneRIF Correction See all GeneRIFs (18)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Developmental and epileptic encephalopathy, 23
MedGen: C4014492 OMIM: 615859 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
EBI GWAS Catalog
Biological, clinical and population relevance of 95 loci for blood lipids.
EBI GWAS Catalog
Common variants at 30 loci contribute to polygenic dyslipidemia.
EBI GWAS Catalog
Discovery and refinement of loci associated with lipid levels.
EBI GWAS Catalog
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
EBI GWAS Catalog
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
EBI GWAS Catalog
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
EBI GWAS Catalog
Genome-wide association study identifies multiple loci influencing human serum metabolite levels.
EBI GWAS Catalog
Genome-wide association study of hematological and biochemical traits in a Japanese population.
EBI GWAS Catalog
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
EBI GWAS Catalog
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
EBI GWAS Catalog
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
EBI GWAS Catalog
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • KIAA1771

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables guanyl-nucleotide exchange factor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables small GTPase binding IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in activation of GTPase activity IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in axonogenesis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in axonogenesis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in establishment of neuroblast polarity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in interkinetic nuclear migration ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in microtubule cytoskeleton organization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in negative regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 PubMed 
involved_in neuron projection development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of GTPase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of peptidyl-serine phosphorylation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of vascular associated smooth muscle cell migration IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of neurogenesis ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in small GTPase-mediated signal transduction IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of COP9 signalosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in axon TAS
Traceable Author Statement
more info
 PubMed 
located_in basal part of cell TAS
Traceable Author Statement
more info
 PubMed 
located_in focal adhesion HDA PubMed 
located_in growth cone TAS
Traceable Author Statement
more info
 PubMed 
located_in neuron projection TAS
Traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
dedicator of cytokinesis protein 7

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033073.2 RefSeqGene

    Range
    4983..238643
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001271999.2 → NP_001258928.1  dedicator of cytokinesis protein 7 isoform 1

    See identical proteins and their annotated locations for NP_001258928.1

    Status: REVIEWED

    Source sequence(s)
    AB051558, AC103923, BG190976, BU567903, DQ341187, DR002667
    Consensus CDS
    CCDS60156.1
    UniProtKB/TrEMBL
    A0A2X0SSK2
    Related
    ENSP00000413583.2, ENST00000454575.6
    Conserved Domains (3) summary
    cd08696
    Location:560 → 737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:1635 → 2107
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71 → 159
    DUF3398; Domain of unknown function (DUF3398)

  2. NM_001272000.2 → NP_001258929.1  dedicator of cytokinesis protein 7 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AB051558, AC103923, AL451044, BG190976, BU567903, DQ118679, DR002667
    Consensus CDS
    CCDS81336.1
    UniProtKB/TrEMBL
    A0A2X0SSK2
    Related
    ENSP00000489284.1, ENST00000634264.1
    Conserved Domains (3) summary
    cd08696
    Location:560 → 737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:1604 → 2078
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71 → 159
    DUF3398; Domain of unknown function (DUF3398)

  3. NM_001272001.2 → NP_001258930.1  dedicator of cytokinesis protein 7 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AB051558, AC103923, AL451044, BG190976, BU567903, DQ118680, DQ341187, DR002667
    Consensus CDS
    CCDS81335.1
    UniProtKB/TrEMBL
    A0A2X0SSK2
    Related
    ENSP00000489499.1, ENST00000635123.1
    Conserved Domains (3) summary
    cd08696
    Location:560 → 737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:1604 → 2076
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71 → 159
    DUF3398; Domain of unknown function (DUF3398)

  4. NM_001272002.2 → NP_001258931.1  dedicator of cytokinesis protein 7 isoform 5

    See identical proteins and their annotated locations for NP_001258931.1

    Status: REVIEWED

    Source sequence(s)
    AC103923, AK055401, AL138847, BX094950, DR002667
    Consensus CDS
    CCDS60157.1
    UniProtKB/TrEMBL
    A0A1B0GUE9
    Related
    ENSP00000384446.2, ENST00000404627.3
    Conserved Domains (2) summary
    pfam11878
    Location:71 → 159
    DUF3398; Domain of unknown function (DUF3398)
    cl14603
    Location:560 → 600
    C2; C2 domain

  5. NM_001330614.2 → NP_001317543.1  dedicator of cytokinesis protein 7 isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC096946, AC103923, AL138847, AL451044
    Consensus CDS
    CCDS81338.1
    UniProtKB/TrEMBL
    A0A2X0SSK2
    Related
    ENSP00000251157.6, ENST00000251157.10
    Conserved Domains (3) summary
    cd08696
    Location:560 → 737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:1635 → 2109
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71 → 159
    DUF3398; Domain of unknown function (DUF3398)

  6. NM_001367561.1 → NP_001354490.1  dedicator of cytokinesis protein 7 isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC096946, AC103923, AL138847, AL451044
    Consensus CDS
    CCDS90964.1
    UniProtKB/Swiss-Prot
    Q00M63, Q2PPY7, Q45RE8, Q45RE9, Q5T1B9, Q5T1C0, Q6ZV32, Q8TB82, Q96N67, Q96NG6, Q96NI0, Q9C092
    UniProtKB/TrEMBL
    A0A2X0SSK2
    Related
    ENSP00000489124.1, ENST00000635253.2

  7. NM_033407.4 → NP_212132.2  dedicator of cytokinesis protein 7 isoform 2

    See identical proteins and their annotated locations for NP_212132.2

    Status: REVIEWED

    Source sequence(s)
    AB051558, AC103923, AK125049, BG190976, BU567903, DQ341187, DR002667
    Consensus CDS
    CCDS30734.1
    UniProtKB/TrEMBL
    A0A2X0SSK2
    Related
    ENSP00000340742.5, ENST00000340370.10
    Conserved Domains (3) summary
    cd08696
    Location:560 → 737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:1613 → 2087
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71 → 159
    DUF3398; Domain of unknown function (DUF3398)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

    Range
    62454726..62688386 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047432967.1 → XP_047288923.1  dedicator of cytokinesis protein 7 isoform X6

  2. XM_047432966.1 → XP_047288922.1  dedicator of cytokinesis protein 7 isoform X5

  3. XM_017002639.2 → XP_016858128.1  dedicator of cytokinesis protein 7 isoform X4

    UniProtKB/TrEMBL
    A0A2X0SSK2

  4. XM_047432964.1 → XP_047288920.1  dedicator of cytokinesis protein 7 isoform X3

  5. XM_011542328.3 → XP_011540630.1  dedicator of cytokinesis protein 7 isoform X2

    UniProtKB/TrEMBL
    A0A2X0SSK2
    Conserved Domains (3) summary
    cd08696
    Location:560 → 737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:1644 → 2113
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71 → 159
    DUF3398; Domain of unknown function (DUF3398)

  6. XM_011542327.3 → XP_011540629.1  dedicator of cytokinesis protein 7 isoform X1

    UniProtKB/TrEMBL
    A0A2X0SSK2
    Conserved Domains (3) summary
    cd08696
    Location:560 → 737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    cd11703
    Location:1644 → 2116
    DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
    pfam11878
    Location:71 → 159
    DUF3398; Domain of unknown function (DUF3398)

  7. XM_011542330.3 → XP_011540632.1  dedicator of cytokinesis protein 7 isoform X8

    Conserved Domains (3) summary
    cd08696
    Location:560 → 737
    C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
    pfam11878
    Location:71 → 159
    DUF3398; Domain of unknown function (DUF3398)
    cl06123
    Location:1644 → 1834
    DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins

  8. XM_017002640.2 → XP_016858129.1  dedicator of cytokinesis protein 7 isoform X7

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    62333313..62566591 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054339329.1 → XP_054195304.1  dedicator of cytokinesis protein 7 isoform X6

  2. XM_054339328.1 → XP_054195303.1  dedicator of cytokinesis protein 7 isoform X5

  3. XM_054339327.1 → XP_054195302.1  dedicator of cytokinesis protein 7 isoform X4

  4. XM_054339326.1 → XP_054195301.1  dedicator of cytokinesis protein 7 isoform X3

  5. XM_054339325.1 → XP_054195300.1  dedicator of cytokinesis protein 7 isoform X2

  6. XM_054339324.1 → XP_054195299.1  dedicator of cytokinesis protein 7 isoform X1

  7. XM_054339331.1 → XP_054195306.1  dedicator of cytokinesis protein 7 isoform X8

  8. XM_054339330.1 → XP_054195305.1  dedicator of cytokinesis protein 7 isoform X7

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96N67.4 GenPept UniProtKB/Swiss-Prot:Q96N67

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