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

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

    Summary

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    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

    Preferred Names
    dedicator of cytokinesis protein 7

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001271999.2NP_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:560737
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11703
      Location:16352107
      DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
      pfam11878
      Location:71159
      DUF3398; Domain of unknown function (DUF3398)
    2. NM_001272000.2NP_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:560737
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11703
      Location:16042078
      DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
      pfam11878
      Location:71159
      DUF3398; Domain of unknown function (DUF3398)
    3. NM_001272001.2NP_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:560737
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11703
      Location:16042076
      DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
      pfam11878
      Location:71159
      DUF3398; Domain of unknown function (DUF3398)
    4. NM_001272002.2NP_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:71159
      DUF3398; Domain of unknown function (DUF3398)
      cl14603
      Location:560600
      C2; C2 domain
    5. NM_001330614.2NP_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:560737
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11703
      Location:16352109
      DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
      pfam11878
      Location:71159
      DUF3398; Domain of unknown function (DUF3398)
    6. NM_001367561.1NP_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_033407.4NP_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:560737
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11703
      Location:16132087
      DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
      pfam11878
      Location:71159
      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_047432967.1XP_047288923.1  dedicator of cytokinesis protein 7 isoform X6

      UniProtKB/TrEMBL
      A0A2X0SSK2
    2. XM_047432966.1XP_047288922.1  dedicator of cytokinesis protein 7 isoform X5

      UniProtKB/TrEMBL
      A0A2X0SSK2
    3. XM_017002639.2XP_016858128.1  dedicator of cytokinesis protein 7 isoform X4

      UniProtKB/TrEMBL
      A0A2X0SSK2
    4. XM_047432964.1XP_047288920.1  dedicator of cytokinesis protein 7 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SSK2
    5. XM_011542328.3XP_011540630.1  dedicator of cytokinesis protein 7 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SSK2
      Conserved Domains (3) summary
      cd08696
      Location:560737
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11703
      Location:16442113
      DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
      pfam11878
      Location:71159
      DUF3398; Domain of unknown function (DUF3398)
    6. XM_011542327.3XP_011540629.1  dedicator of cytokinesis protein 7 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SSK2
      Conserved Domains (3) summary
      cd08696
      Location:560737
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      cd11703
      Location:16442116
      DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7
      pfam11878
      Location:71159
      DUF3398; Domain of unknown function (DUF3398)
    7. XM_011542330.3XP_011540632.1  dedicator of cytokinesis protein 7 isoform X8

      Conserved Domains (3) summary
      cd08696
      Location:560737
      C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins
      pfam11878
      Location:71159
      DUF3398; Domain of unknown function (DUF3398)
      cl06123
      Location:16441834
      DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
    8. XM_017002640.2XP_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_054339329.1XP_054195304.1  dedicator of cytokinesis protein 7 isoform X6

      UniProtKB/TrEMBL
      A0A2X0SSK2
    2. XM_054339328.1XP_054195303.1  dedicator of cytokinesis protein 7 isoform X5

      UniProtKB/TrEMBL
      A0A2X0SSK2
    3. XM_054339327.1XP_054195302.1  dedicator of cytokinesis protein 7 isoform X4

      UniProtKB/TrEMBL
      A0A2X0SSK2
    4. XM_054339326.1XP_054195301.1  dedicator of cytokinesis protein 7 isoform X3

      UniProtKB/TrEMBL
      A0A2X0SSK2
    5. XM_054339325.1XP_054195300.1  dedicator of cytokinesis protein 7 isoform X2

      UniProtKB/TrEMBL
      A0A2X0SSK2
    6. XM_054339324.1XP_054195299.1  dedicator of cytokinesis protein 7 isoform X1

      UniProtKB/TrEMBL
      A0A2X0SSK2
    7. XM_054339331.1XP_054195306.1  dedicator of cytokinesis protein 7 isoform X8

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