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

Gene ID: 9732, updated on 7-Jun-2020

Summary

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
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

Genomic context

See DOCK4 in Genome Data Viewer
Location:
7q31.1
Exon count:
55
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (111726110..112206399, 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 RN7SK pseudogene 187 Neighboring gene MT-ND5 pseudogene 8

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ34238, KIAA0716, MGC134911, MGC134912

Gene Ontology Provided by GOA

Function Evidence Code Pubs
GTPase activator activity IEA
Inferred from Electronic Annotation
more info
 
PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
Rac GTPase binding IDA
Inferred from Direct Assay
more info
PubMed 
Rac guanyl-nucleotide exchange factor activity IDA
Inferred from Direct Assay
more info
PubMed 
SH3 domain binding 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 

General protein information

Preferred Names
dedicator of cytokinesis protein 4

NCBI Reference Sequences (RefSeq)

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_001363540.2NP_001350469.1  dedicator of cytokinesis protein 4 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC003077, AC003080, AC004111, AC005047
    Consensus CDS
    CCDS87541.1
    Related
    ENSP00000410746.1, ENST00000428084.6
    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_014705.4NP_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, ENST00000437633.6
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

    Range
    111726110..112206399 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_017012819.1XP_016868308.1  dedicator of cytokinesis protein 4 isoform X1

    Related
    ENSP00000397412.1, ENST00000445943.5
  6. 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
  7. XM_017012820.1XP_016868309.1  dedicator of cytokinesis protein 4 isoform X2

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

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

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