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    DOCK4 dedicator of cytokinesis 4 [ Homo sapiens (human) ]

    Gene ID: 9732, updated on 2-Nov-2024

    Summary

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    Official Symbol
    DOCK4provided by HGNC
    Official Full Name
    dedicator of cytokinesis 4provided by HGNC
    Primary source
    HGNC:HGNC:19192
    See related
    Ensembl:ENSG00000128512 MIM:607679; AllianceGenome:HGNC:19192
    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
    Summary
    This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in lung (RPKM 9.6), brain (RPKM 9.0) and 23 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DOCK4 in Genome Data Viewer
    Location:
    7q31.1
    Exon count:
    55
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (111726110..112206399, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (113044415..113524706, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (111366166..111846454, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene inner mitochondrial membrane peptidase subunit 2 Neighboring gene uncharacterized LOC124900232 Neighboring gene NANOG hESC enhancer GRCh37_chr7:111032977-111033478 Neighboring gene argininosuccinate synthase 1 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:111085393-111086024 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:111086025-111086655 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26506 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18543 Neighboring gene NANOG hESC enhancer GRCh37_chr7:111276647-111277190 Neighboring gene MPRA-validated peak6689 silencer Neighboring gene NANOG hESC enhancer GRCh37_chr7:111382935-111383576 Neighboring gene uncharacterized LOC124901727 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:111397974-111399173 Neighboring gene uncharacterized LOC124901726 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr7:111507301-111508500 Neighboring gene DOCK4 antisense RNA 1 Neighboring gene NANOG hESC enhancer GRCh37_chr7:111592130-111592668 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:111602884-111603668 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:111603669-111604451 Neighboring gene RNA, 5S ribosomal pseudogene 237 Neighboring gene ribosomal protein L7a pseudogene 42 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26509 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:111767901-111768536 Neighboring gene NANOG hESC enhancer GRCh37_chr7:111802020-111802560 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26510 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:111892650-111893231 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:111905044-111905648 Neighboring gene zinc finger protein 277 Neighboring gene RN7SK pseudogene 187 Neighboring gene ZNF277 antisense RNA 1

    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. Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly. Herbst C, et al. Hum Genet, 2024 Mar. PMID 38526744, Free PMC Article
    2. Integration analysis of lncRNA and mRNA expression data identifies DOCK4 as a potential biomarker for elderly osteoporosis. Wu C, et al. BMC Med Genomics, 2024 Mar 5. PMID 38443923, Free PMC Article
    3. TGF-β/Smad signaling through DOCK4 facilitates lung adenocarcinoma metastasis. Yu JR, et al. Genes Dev, 2015 Feb 1. PMID 25644601, Free PMC Article
    4. Genetic variations in DOCK4 contribute to schizophrenia susceptibility in a Chinese cohort: A genetic neuroimaging study. Xu X, et al. Behav Brain Res, 2023 Apr 12. PMID 36822513
    5. Aberrant epigenetic and genetic marks are seen in myelodysplastic leukocytes and reveal Dock4 as a candidate pathogenic gene on chromosome 7q. Zhou L, et al. J Biol Chem, 2011 Jul 15. PMID 21532034, Free PMC Article

    See all (81) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
      Title: Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
    2. Integration analysis of lncRNA and mRNA expression data identifies DOCK4 as a potential biomarker for elderly osteoporosis.
      Title: Integration analysis of lncRNA and mRNA expression data identifies DOCK4 as a potential biomarker for elderly osteoporosis.
    3. Genetic variations in DOCK4 contribute to schizophrenia susceptibility in a Chinese cohort: A genetic neuroimaging study.
      Title: Genetic variations in DOCK4 contribute to schizophrenia susceptibility in a Chinese cohort: A genetic neuroimaging study.
    4. DOCK4 regulates ghrelin production in gastric X/A-like cells.
      Title: DOCK4 regulates ghrelin production in gastric X/A-like cells.
    5. DOCK4 stimulates MUC2 production through its effect on goblet cell differentiation.
      Title: DOCK4 stimulates MUC2 production through its effect on goblet cell differentiation.
    6. Up-regulated cytotrophoblast DOCK4 contributes to over-invasion in placenta accreta spectrum.
      Title: Up-regulated cytotrophoblast DOCK4 contributes to over-invasion in placenta accreta spectrum.
    7. SR-B1 drives endothelial cell LDL transcytosis via DOCK4 to promote atherosclerosis
      Title: SR-B1 drives endothelial cell LDL transcytosis via DOCK4 to promote atherosclerosis.
    8. DOCK4 over expression suppresses selfrenewal and tumorigenicity of glioblastoma (GBM) stem-like cells. Accordingly in the frame of GBM median of survival, increased level of DOCK4 predicts improved patient survival.
      Title: DOCK4 promotes loss of proliferation in glioblastoma progenitor cells through nuclear beta-catenin accumulation and subsequent miR-302-367 cluster expression.
    9. DOCK4 signalling is necessary for lateral filopodial protrusions and tubule remodelling prior to vascular lumen formation
      Title: A Rac/Cdc42 exchange factor complex promotes formation of lateral filopodia and blood vessel lumen morphogenesis.
    10. These data identify DOCK4 as a putative 7q gene whose reduced expression can lead to erythroid dysplasia
      Title: Reduced DOCK4 expression leads to erythroid dysplasia in myelodysplastic syndromes.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    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

    EBI GWAS Catalog

    Description
    Genetic associations with C-reactive protein level and white blood cell count in the KARE study.
    EBI GWAS Catalog
    Genetic variants associated with breast size also influence breast cancer risk.
    EBI GWAS Catalog
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.
    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

    • FLJ34238, KIAA0716, MGC134911, MGC134912

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables GTPase activator activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables PDZ domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables receptor tyrosine kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small GTPase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables small GTPase binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cell chemotaxis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in cell chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in negative regulation of vascular associated smooth muscle contraction 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 postsynapse assembly IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in small GTPase-mediated signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in glutamatergic synapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		  
    located_in postsynapse IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in stereocilium ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    located_in stereocilium bundle ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dedicator of cytokinesis protein 4

    NCBI Reference Sequences (RefSeq)

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    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_028060.2 RefSeqGene

      Range
      5013..485302
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001363540.2 → NP_001350469.1  dedicator of cytokinesis protein 4 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC003077, AC003080, AC004111, AC005047
      Consensus CDS
      CCDS87541.1
      UniProtKB/TrEMBL
      Q149N6
      Related
      ENSP00000410746.1, ENST00000428084.6
      Conserved Domains (5) summary
      cd08695
      Location:400 → 584
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11705
      Location:1206 → 1596
      DHR2_DOCK4; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 4
      cd12049
      Location:10 → 65
      SH3_DOCK4_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 4
      pfam16172
      Location:69 → 392
      DOCK_N; DOCK N-terminus
      cl26464
      Location:1725 → 1932
      Atrophin-1; Atrophin-1 family

    2. NM_014705.4 → NP_055520.3  dedicator of cytokinesis protein 4 isoform 1

      See identical proteins and their annotated locations for NP_055520.3

      Status: REVIEWED

      Source sequence(s)
      AB018259, AY233380, BM126591, BM545903, DA646980
      Consensus CDS
      CCDS47688.1
      UniProtKB/Swiss-Prot
      O14584, O94824, Q8N1I0, Q8NB45
      UniProtKB/TrEMBL
      Q149N6
      Related
      ENSP00000404179.1, ENST00000437633.6
      Conserved Domains (4) summary
      cd08695
      Location:400 → 584
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11705
      Location:1197 → 1587
      DHR2_DOCK4; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 4
      cd12049
      Location:10 → 65
      SH3_DOCK4_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 4
      pfam16172
      Location:69 → 392
      DOCK_N; DOCK N-terminus

    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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      111726110..112206399 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421081.1 → XP_047277037.1  dedicator of cytokinesis protein 4 isoform X10

    2. XM_006716189.3 → XP_006716252.1  dedicator of cytokinesis protein 4 isoform X11

      UniProtKB/TrEMBL
      Q149N6
      Conserved Domains (4) summary
      cd08695
      Location:400 → 584
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11705
      Location:1206 → 1596
      DHR2_DOCK4; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 4
      cd12049
      Location:10 → 65
      SH3_DOCK4_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 4
      pfam16172
      Location:69 → 392
      DOCK_N; DOCK N-terminus

    3. XM_017012825.2 → XP_016868314.1  dedicator of cytokinesis protein 4 isoform X9

      UniProtKB/TrEMBL
      Q149N6

    4. XM_017012821.2 → XP_016868310.1  dedicator of cytokinesis protein 4 isoform X3

      UniProtKB/TrEMBL
      Q149N6

    5. XM_017012823.2 → XP_016868312.1  dedicator of cytokinesis protein 4 isoform X7

      UniProtKB/TrEMBL
      Q149N6

    6. XM_047421078.1 → XP_047277034.1  dedicator of cytokinesis protein 4 isoform X5

    7. XM_017012824.2 → XP_016868313.1  dedicator of cytokinesis protein 4 isoform X8

      UniProtKB/TrEMBL
      Q149N6

    8. XM_017012819.2 → XP_016868308.1  dedicator of cytokinesis protein 4 isoform X1

      UniProtKB/TrEMBL
      Q149N6

    9. XM_024447006.2 → XP_024302774.1  dedicator of cytokinesis protein 4 isoform X12

      UniProtKB/TrEMBL
      Q149N6
      Conserved Domains (4) summary
      cd08695
      Location:324 → 508
      C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
      cd11705
      Location:1130 → 1520
      DHR2_DOCK4; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 4
      pfam16172
      Location:2 → 316
      DOCK_N; DOCK N-terminus
      cl26464
      Location:1649 → 1856
      Atrophin-1; Atrophin-1 family

    10. XM_017012820.2 → XP_016868309.1  dedicator of cytokinesis protein 4 isoform X2

      UniProtKB/TrEMBL
      Q149N6

    11. XM_017012822.2 → XP_016868311.1  dedicator of cytokinesis protein 4 isoform X4

      UniProtKB/TrEMBL
      Q149N6

    12. XM_047421079.1 → XP_047277035.1  dedicator of cytokinesis protein 4 isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      113044415..113524706 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359417.1 → XP_054215392.1  dedicator of cytokinesis protein 4 isoform X10

    2. XM_054359418.1 → XP_054215393.1  dedicator of cytokinesis protein 4 isoform X11

    3. XM_054359416.1 → XP_054215391.1  dedicator of cytokinesis protein 4 isoform X9

    4. XM_054359410.1 → XP_054215385.1  dedicator of cytokinesis protein 4 isoform X3

    5. XM_054359414.1 → XP_054215389.1  dedicator of cytokinesis protein 4 isoform X7

    6. XM_054359412.1 → XP_054215387.1  dedicator of cytokinesis protein 4 isoform X5

    7. XM_054359415.1 → XP_054215390.1  dedicator of cytokinesis protein 4 isoform X8

    8. XM_054359408.1 → XP_054215383.1  dedicator of cytokinesis protein 4 isoform X1

    9. XM_054359419.1 → XP_054215394.1  dedicator of cytokinesis protein 4 isoform X12

    10. XM_054359409.1 → XP_054215384.1  dedicator of cytokinesis protein 4 isoform X2

    11. XM_054359411.1 → XP_054215386.1  dedicator of cytokinesis protein 4 isoform X4

    12. XM_054359413.1 → XP_054215388.1  dedicator of cytokinesis protein 4 isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N1I0.3 GenPept UniProtKB/Swiss-Prot:Q8N1I0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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