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

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: mouse all
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Genomic context

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_000007.14 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
DOCK4 regulates ghrelin production in gastric X/A-like cells.
Title: DOCK4 regulates ghrelin production in gastric X/A-like cells.
DOCK4 stimulates MUC2 production through its effect on goblet cell differentiation.
Title: DOCK4 stimulates MUC2 production through its effect on goblet cell differentiation.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Genetic variants associated with breast size also influence breast cancer risk. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study indicates variants associated with insulin signaling and inflammation mediate lipoprotein responses to fenofibrate. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:1234268 (e-PCR)
- UniSTS:78879

SHGC-81329 (e-PCR)
- UniSTS:102691

GDB:3754623 (e-PCR)
- UniSTS:6182

RH93151 (e-PCR)
- UniSTS:88361

RH48305 (e-PCR)
- UniSTS:33844

D7S523 (e-PCR)
- UniSTS:38199

G32465 (e-PCR)
- UniSTS:117050

D7S523 (e-PCR)
- UniSTS:30524

RH119391 (e-PCR)
- UniSTS:132932

RH66687 (e-PCR)
- UniSTS:69188

RH94189 (e-PCR)
- UniSTS:87134

GDB:1317986 (e-PCR)
- UniSTS:54882

D7S1424 (e-PCR)
- UniSTS:41322

G42167 (e-PCR)
- UniSTS:93296

G42169 (e-PCR)
- UniSTS:93298

D11S3114 (e-PCR)
- UniSTS:152207

RH119803 (e-PCR)
- UniSTS:133278

A009E05 (e-PCR)
- UniSTS:62368

D7S523 (e-PCR)
- UniSTS:10403

RH118992 (e-PCR)
- UniSTS:138960

G49158 (e-PCR)
- UniSTS:96213

G49159 (e-PCR)
- UniSTS:96214

RH68519 (e-PCR)
- UniSTS:10468

GDB:1317590 (e-PCR)
- UniSTS:47854

SHGC-173129 (e-PCR)
- UniSTS:185329

GDB:4585517 (e-PCR)
- UniSTS:43763

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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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

NG_028060.2 RefSeqGene

Range

5013..485302

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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

NC_000007.14 Reference GRCh38.p14 Primary Assembly

Range

111726110..112206399 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047421081.1 → XP_047277037.1 dedicator of cytokinesis protein 4 isoform X10
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
XM_017012825.2 → XP_016868314.1 dedicator of cytokinesis protein 4 isoform X9

UniProtKB/TrEMBL

Q149N6
XM_017012821.2 → XP_016868310.1 dedicator of cytokinesis protein 4 isoform X3

UniProtKB/TrEMBL

Q149N6
XM_017012823.2 → XP_016868312.1 dedicator of cytokinesis protein 4 isoform X7

UniProtKB/TrEMBL

Q149N6
XM_047421078.1 → XP_047277034.1 dedicator of cytokinesis protein 4 isoform X5
XM_017012824.2 → XP_016868313.1 dedicator of cytokinesis protein 4 isoform X8

UniProtKB/TrEMBL

Q149N6
XM_017012819.2 → XP_016868308.1 dedicator of cytokinesis protein 4 isoform X1

UniProtKB/TrEMBL

Q149N6
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
XM_017012820.2 → XP_016868309.1 dedicator of cytokinesis protein 4 isoform X2

UniProtKB/TrEMBL

Q149N6
XM_017012822.2 → XP_016868311.1 dedicator of cytokinesis protein 4 isoform X4

UniProtKB/TrEMBL

Q149N6
XM_047421079.1 → XP_047277035.1 dedicator of cytokinesis protein 4 isoform X6