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

Gene ID: 9732, updated on 10-Dec-2024

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; 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

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

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

Preferred Names
dedicator of cytokinesis protein 4

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_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
    UniProtKB/TrEMBL
    Q149N6
    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
    O14584, O94824, Q8N1I0, Q8NB45
    UniProtKB/TrEMBL
    Q149N6
    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: 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_047421081.1XP_047277037.1  dedicator of cytokinesis protein 4 isoform X10

    UniProtKB/TrEMBL
    Q149N6
  2. XM_006716189.3XP_006716252.1  dedicator of cytokinesis protein 4 isoform X11

    UniProtKB/TrEMBL
    Q149N6
    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
  3. XM_017012825.2XP_016868314.1  dedicator of cytokinesis protein 4 isoform X9

    UniProtKB/TrEMBL
    Q149N6
  4. XM_017012821.2XP_016868310.1  dedicator of cytokinesis protein 4 isoform X3

    UniProtKB/TrEMBL
    Q149N6
  5. XM_017012823.2XP_016868312.1  dedicator of cytokinesis protein 4 isoform X7

    UniProtKB/TrEMBL
    Q149N6
  6. XM_047421078.1XP_047277034.1  dedicator of cytokinesis protein 4 isoform X5

    UniProtKB/TrEMBL
    Q149N6
  7. XM_017012824.2XP_016868313.1  dedicator of cytokinesis protein 4 isoform X8

    UniProtKB/TrEMBL
    Q149N6
  8. XM_017012819.2XP_016868308.1  dedicator of cytokinesis protein 4 isoform X1

    UniProtKB/TrEMBL
    Q149N6
  9. XM_024447006.2XP_024302774.1  dedicator of cytokinesis protein 4 isoform X12

    UniProtKB/TrEMBL
    Q149N6
    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
  10. XM_017012820.2XP_016868309.1  dedicator of cytokinesis protein 4 isoform X2

    UniProtKB/TrEMBL
    Q149N6
  11. XM_017012822.2XP_016868311.1  dedicator of cytokinesis protein 4 isoform X4

    UniProtKB/TrEMBL
    Q149N6
  12. XM_047421079.1XP_047277035.1  dedicator of cytokinesis protein 4 isoform X6

    UniProtKB/TrEMBL
    Q149N6

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_054359417.1XP_054215392.1  dedicator of cytokinesis protein 4 isoform X10

    UniProtKB/TrEMBL
    Q149N6
  2. XM_054359418.1XP_054215393.1  dedicator of cytokinesis protein 4 isoform X11

    UniProtKB/TrEMBL
    Q149N6
  3. XM_054359416.1XP_054215391.1  dedicator of cytokinesis protein 4 isoform X9

    UniProtKB/TrEMBL
    Q149N6
  4. XM_054359410.1XP_054215385.1  dedicator of cytokinesis protein 4 isoform X3

    UniProtKB/TrEMBL
    Q149N6
  5. XM_054359414.1XP_054215389.1  dedicator of cytokinesis protein 4 isoform X7

    UniProtKB/TrEMBL
    Q149N6
  6. XM_054359412.1XP_054215387.1  dedicator of cytokinesis protein 4 isoform X5

    UniProtKB/TrEMBL
    Q149N6
  7. XM_054359415.1XP_054215390.1  dedicator of cytokinesis protein 4 isoform X8

    UniProtKB/TrEMBL
    Q149N6
  8. XM_054359408.1XP_054215383.1  dedicator of cytokinesis protein 4 isoform X1

    UniProtKB/TrEMBL
    Q149N6
  9. XM_054359419.1XP_054215394.1  dedicator of cytokinesis protein 4 isoform X12

    UniProtKB/TrEMBL
    Q149N6
  10. XM_054359409.1XP_054215384.1  dedicator of cytokinesis protein 4 isoform X2

    UniProtKB/TrEMBL
    Q149N6
  11. XM_054359411.1XP_054215386.1  dedicator of cytokinesis protein 4 isoform X4

    UniProtKB/TrEMBL
    Q149N6
  12. XM_054359413.1XP_054215388.1  dedicator of cytokinesis protein 4 isoform X6

    UniProtKB/TrEMBL
    Q149N6