Format

Send to:

Choose Destination

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

Gene ID: 9732, updated on 5-Aug-2018
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; Vega:OTTHUMG00000155077
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
See DOCK4 in Genome Data Viewer
Location:
7q31.1
Exon count:
55
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 7 NC_000007.14 (111726108..112206407, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (111366164..111846462, complement)

Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene inner mitochondrial membrane peptidase subunit 2 Neighboring gene leucine rich repeat neuronal 3 Neighboring gene argininosuccinate synthase 1 pseudogene Neighboring gene DOCK4 antisense RNA 1 Neighboring gene RNA, 5S ribosomal pseudogene 237 Neighboring gene ribosomal protein L7a pseudogene 42 Neighboring gene zinc finger protein 277 Neighboring gene uncharacterized LOC105375456 Neighboring gene RNA, 7SK small nuclear pseudogene 187 Neighboring gene MT-ND5 pseudogene 8

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genetic associations with C-reactive protein level and white blood cell count in the KARE study.
NHGRI GWA Catalog
Genetic variants associated with breast size also influence breast cancer risk.
NHGRI GWA Catalog
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
NHGRI GWA Catalog
Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate.
NHGRI GWA Catalog
  • Factors involved in megakaryocyte development and platelet production, organism-specific biosystem (from REACTOME)
    Factors involved in megakaryocyte development and platelet production, organism-specific biosystemMegakaryocytes (MKs) give rise to circulating platelets (thrombocytes) through terminal differentiation of MKs which release cytoplasmic fragments as circulating platelets. As MKs mature they underg...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Rap1 signaling pathway, organism-specific biosystem (from KEGG)
    Rap1 signaling pathway, organism-specific biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
  • Rap1 signaling pathway, conserved biosystem (from KEGG)
    Rap1 signaling pathway, conserved biosystemRap1 is a small GTPase that controls diverse processes, such as cell adhesion, cell-cell junction formation and cell polarity. Like all G proteins, Rap1 cycles between an inactive GDP-bound and an ac...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ34238, KIAA0716, MGC134911, MGC134912

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IDA
Inferred from Direct Assay
more info
PubMed 
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
Rac GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
SH3 domain binding IEA
Inferred from Electronic Annotation
more info
 
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
receptor tyrosine kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
negative regulation of vascular smooth muscle contraction IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of GTPase activity IEA
Inferred from Electronic Annotation
more info
 
positive regulation of vascular associated smooth muscle cell migration IMP
Inferred from Mutant Phenotype
more info
PubMed 
small GTPase mediated signal transduction IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
 
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
nucleolus IDA
Inferred from Direct Assay
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
 
stereocilium ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
stereocilium bundle ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
Preferred Names
dedicator of cytokinesis protein 4

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_028060.1 RefSeqGene

    Range
    5001..485299
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Status: REVIEWED

    Source sequence(s)
    AC003077, AC003080, AC004111, AC005047
    Consensus CDS
    CCDS87541.1
    Conserved Domains (5) summary
    cd08695
    Location:400584
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11705
    Location:12061596
    DHR2_DOCK4; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 4
    cd12049
    Location:1065
    SH3_DOCK4_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 4
    pfam16172
    Location:69392
    DOCK_N; DOCK N-terminus
    cl26464
    Location:17251932
    Atrophin-1; Atrophin-1 family
  2. NM_014705.3NP_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
    Q8N1I0
    Related
    ENSP00000404179.1, OTTHUMP00000207227, ENST00000437633.5, OTTHUMT00000338369
    Conserved Domains (4) summary
    cd08695
    Location:400584
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11705
    Location:11971587
    DHR2_DOCK4; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 4
    cd12049
    Location:1065
    SH3_DOCK4_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 4
    pfam16172
    Location:69392
    DOCK_N; DOCK N-terminus

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p12 Primary Assembly

    Range
    111726108..112206407 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017012824.1XP_016868313.1  dedicator of cytokinesis protein 4 isoform X7

  2. XM_017012825.1XP_016868314.1  dedicator of cytokinesis protein 4 isoform X8

  3. XM_017012821.1XP_016868310.1  dedicator of cytokinesis protein 4 isoform X3

  4. XM_006716189.2XP_006716252.1  dedicator of cytokinesis protein 4 isoform X9

    UniProtKB/Swiss-Prot
    Q8N1I0
    Conserved Domains (4) summary
    cd08695
    Location:400584
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11705
    Location:12061596
    DHR2_DOCK4; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 4
    cd12049
    Location:1065
    SH3_DOCK4_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 4
    pfam16172
    Location:69392
    DOCK_N; DOCK N-terminus
  5. XM_006716188.2XP_006716251.1  dedicator of cytokinesis protein 4 isoform X5

    UniProtKB/Swiss-Prot
    Q8N1I0
    Related
    ENSP00000410746.1, OTTHUMP00000207500, ENST00000428084.5, OTTHUMT00000338943
    Conserved Domains (5) summary
    cd08695
    Location:400584
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11705
    Location:12061596
    DHR2_DOCK4; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 4
    cd12049
    Location:1065
    SH3_DOCK4_B; Src Homology 3 domain of Class B Dedicator of Cytokinesis 4
    pfam16172
    Location:69392
    DOCK_N; DOCK N-terminus
    cl26464
    Location:17251932
    Atrophin-1; Atrophin-1 family
  6. XM_017012819.1XP_016868308.1  dedicator of cytokinesis protein 4 isoform X1

  7. XM_024447006.1XP_024302774.1  dedicator of cytokinesis protein 4 isoform X10

    Conserved Domains (4) summary
    cd08695
    Location:324508
    C2_Dock-B; C2 domains found in Dedicator Of CytoKinesis (Dock) class B proteins
    cd11705
    Location:11301520
    DHR2_DOCK4; Dock Homology Region 2, a GEF domain, of Class B Dedicator of Cytokinesis 4
    pfam16172
    Location:2316
    DOCK_N; DOCK N-terminus
    cl26464
    Location:16491856
    Atrophin-1; Atrophin-1 family
  8. XM_017012820.1XP_016868309.1  dedicator of cytokinesis protein 4 isoform X2

  9. XM_017012823.1XP_016868312.1  dedicator of cytokinesis protein 4 isoform X6

  10. XM_017012822.1XP_016868311.1  dedicator of cytokinesis protein 4 isoform X4

Support Center