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

Gene ID: 9732, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (111726110..112206399, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (113044415..113524706, complement)
105.20220307 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
  • 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. 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
  2. Up-regulated cytotrophoblast DOCK4 contributes to over-invasion in placenta accreta spectrum. McNally L, et al. Proc Natl Acad Sci U S A, 2020 Jul 7. PMID 32576693, 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. 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
  5. Molecular association between beta-catenin degradation complex and Rac guanine exchange factor DOCK4 is essential for Wnt/beta-catenin signaling. Upadhyay G, et al. Oncogene, 2008 Oct 2. PMID 18641688, Free PMC Article

See all (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. DOCK4 regulates ghrelin production in gastric X/A-like cells.
    Title: DOCK4 regulates ghrelin production in gastric X/A-like cells.
  4. DOCK4 stimulates MUC2 production through its effect on goblet cell differentiation.
    Title: DOCK4 stimulates MUC2 production through its effect on goblet cell differentiation.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. activator DOCK4 as a key component of the TGF-beta/Smad pathway that promotes lung ADC cell extravasation and metastasis.
    Title: TGF-β/Smad signaling through DOCK4 facilitates lung adenocarcinoma metastasis.
Submit: New GeneRIF Correction See all GeneRIFs (22)

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 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 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 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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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_2023_10

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

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