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

    Gene ID: 85440, updated on 3-Nov-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
    mouse all
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    Genomic context

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    See DOCK7 in Genome Data Viewer
    Location:
    1p31.3
    Exon count:
    53
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (62454726..62688386, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (62333313..62566591, complement)
    RS_2024_09 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 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. 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
    2. 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
    3. 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
    4. Tumour-associated macrophage-derived DOCK7-enriched extracellular vesicles drive tumour metastasis in colorectal cancer via the RAC1/ABCA1 axis. Chen W, et al. Clin Transl Med, 2024 Feb. PMID 38385857, Free PMC Article
    5. 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

    See all (160) 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
    		Compare labs

    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 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 Rho protein signal transduction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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_2024_08

    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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