DOCK7 dedicator of cytokinesis 7 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DOCK7provided by HGNC
Official Full Name: dedicator of cytokinesis 7provided by HGNC
Primary source: HGNC:HGNC:19190
See related: Ensembl:ENSG00000116641 MIM:615730; AllianceGenome:HGNC:19190
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
Also known as: ZIR2; DEE23; EIEE23
Summary: The protein encoded by this gene is a guanine nucleotide exchange factor (GEF) that plays a role in axon formation and neuronal polarization. The encoded protein displays GEF activity toward RAC1 and RAC3 Rho small GTPases but not toward CDC42. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
Expression: Ubiquitous expression in testis (RPKM 8.6), ovary (RPKM 6.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1p31.3

Exon count:: 53

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (62454726..62688386, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (62333313..62566591, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (62920397..63154057, complement)

Chromosome 1 - NC_000001.11 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Tumour-associated macrophage-derived DOCK7-enriched extracellular vesicles drive tumour metastasis in colorectal cancer via the RAC1/ABCA1 axis.
Title: Tumour-associated macrophage-derived DOCK7-enriched extracellular vesicles drive tumour metastasis in colorectal cancer via the RAC1/ABCA1 axis.
Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.
Title: Characteristic facial features and cortical blindness distinguish the DOCK7-related epileptic encephalopathy.
DOCK7 protects against replication stress by promoting RPA stability on chromatin.
Title: DOCK7 protects against replication stress by promoting RPA stability on chromatin.
analysis of the crystal structure of the Cdc42-bound form of the DOCK7 DHR-2 domain of DOCK7 shows dual specificity for Rac1 and Cdc42
Title: Structural Basis for the Dual Substrate Specificity of DOCK7 Guanine Nucleotide Exchange Factor.
Nbeal2 interacts with Dock7, Sec16a, and Vac14.
Title: Nbeal2 interacts with Dock7, Sec16a, and Vac14.
these results suggest that the DOCK-ANGPTL3 SNPs and their haplotypes were associated with the angiographic severity to coronary artery atherosclerosis and the risk of coronary artery disease (CAD) and ischemic stroke in the Southern Chinese Han population.
Title: DOCK7-ANGPTL3 SNPs and their haplotypes with serum lipid levels and the risk of coronary artery disease and ischemic stroke.
Possible inter-locus interactions among the DOCK7, PCSK9 and GALNT2 SNPs were also noted.
Title: Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.
Differences in lipid profiles between the Jing and Han populations might partially attribute to the DOCK7, PCSK9 and GALNT2 gene polymorphisms and their haplotypes determining different risk for the development of cardiovascular diseases.
Title: Association between the DOCK7, PCSK9 and GALNT2 Gene Polymorphisms and Serum Lipid levels.
Interaction of myosin VI and its binding partner DOCK7 plays an important role in NGF-stimulated protrusion formation in PC12 cells.
Title: Interaction of myosin VI and its binding partner DOCK7 plays an important role in NGF-stimulated protrusion formation in PC12 cells.
These observations suggest that loss of DOCK7 function causes a syndromic form of epileptic encephalopathy by affecting multiple neuronal processes.
Title: Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness.

Submit: New GeneRIF Correction See all GeneRIFs (18)

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

Associated conditions

Description	Tests
Developmental and epileptic encephalopathy, 23 MedGen: C4014492 OMIM: 615859 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome wide association study identifies common variants associated with lipid levels in the Chinese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Common variants at 30 loci contribute to polygenic dyslipidemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies multiple loci influencing human serum metabolite levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of hematological and biochemical traits in a Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. EBI GWAS Catalog EBI GWAS CatalogPubMed
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. 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

SHGC-74916 (e-PCR)
- UniSTS:74032

D8S2279 (e-PCR)
- UniSTS:473907

SHGC-74924 (e-PCR)
- UniSTS:57404

AL009364 (e-PCR)
- UniSTS:15687

SHGC-74895 (e-PCR)
- UniSTS:82247

D1S3572 (e-PCR)
- UniSTS:57672

SHGC-155426 (e-PCR)
- UniSTS:185422

D15S1477 (e-PCR)
- UniSTS:474482

D1S1423 (e-PCR)
- UniSTS:149619

D1S1425 (e-PCR)
- UniSTS:149621

ANGPTL3_2597 (e-PCR)
- UniSTS:280439

SHGC-74917 (e-PCR)
- UniSTS:81031

G20478 (e-PCR)
- UniSTS:76432

A005T17 (e-PCR)
- UniSTS:76433

SHGC-32281 (e-PCR)
- UniSTS:17100

AL033557 (e-PCR)
- UniSTS:94162

RH46994 (e-PCR)
- UniSTS:80595

GDB:631802 (e-PCR)
- UniSTS:158429

AL033806 (e-PCR)
- UniSTS:93671

SHGC-74934 (e-PCR)
- UniSTS:77048

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables guanyl-nucleotide exchange factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in activation of GTPase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in axonogenesis	IBA Inferred from Biological aspect of Ancestor more info
involved_in axonogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in establishment of neuroblast polarity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in interkinetic nuclear migration	ISS Inferred from Sequence or Structural Similarity more info
involved_in microtubule cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of cold-induced thermogenesis	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in neuron projection development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of peptidyl-serine phosphorylation	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 Rho protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of neurogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in small GTPase-mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of COP9 signalosome	IDA Inferred from Direct Assay more info	PubMed
located_in axon	TAS Traceable Author Statement more info	PubMed
located_in basal part of cell	TAS Traceable Author Statement more info	PubMed
located_in focal adhesion	HDA more info	PubMed
located_in growth cone	TAS Traceable Author Statement more info	PubMed
located_in neuron projection	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: dedicator of cytokinesis protein 7

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_033073.2 RefSeqGene

Range

4983..238643

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001271999.2 → NP_001258928.1 dedicator of cytokinesis protein 7 isoform 1

See identical proteins and their annotated locations for NP_001258928.1

Status: REVIEWED

Source sequence(s)

AB051558, AC103923, BG190976, BU567903, DQ341187, DR002667

Consensus CDS

CCDS60156.1

UniProtKB/TrEMBL

A0A2X0SSK2

Related

ENSP00000413583.2, ENST00000454575.6

Conserved Domains (3) summary

cd08696
Location:560 → 737

C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins

cd11703
Location:1635 → 2107

DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7

pfam11878
Location:71 → 159

DUF3398; Domain of unknown function (DUF3398)
NM_001272000.2 → NP_001258929.1 dedicator of cytokinesis protein 7 isoform 3

Status: REVIEWED

Source sequence(s)

AB051558, AC103923, AL451044, BG190976, BU567903, DQ118679, DR002667

Consensus CDS

CCDS81336.1

UniProtKB/TrEMBL

A0A2X0SSK2

Related

ENSP00000489284.1, ENST00000634264.1

Conserved Domains (3) summary

cd08696
Location:560 → 737

C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins

cd11703
Location:1604 → 2078

DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7

pfam11878
Location:71 → 159

DUF3398; Domain of unknown function (DUF3398)
NM_001272001.2 → NP_001258930.1 dedicator of cytokinesis protein 7 isoform 4

Status: REVIEWED

Source sequence(s)

AB051558, AC103923, AL451044, BG190976, BU567903, DQ118680, DQ341187, DR002667

Consensus CDS

CCDS81335.1

UniProtKB/TrEMBL

A0A2X0SSK2

Related

ENSP00000489499.1, ENST00000635123.1

Conserved Domains (3) summary

cd08696
Location:560 → 737

C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins

cd11703
Location:1604 → 2076

DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7

pfam11878
Location:71 → 159

DUF3398; Domain of unknown function (DUF3398)
NM_001272002.2 → NP_001258931.1 dedicator of cytokinesis protein 7 isoform 5

See identical proteins and their annotated locations for NP_001258931.1

Status: REVIEWED

Source sequence(s)

AC103923, AK055401, AL138847, BX094950, DR002667

Consensus CDS

CCDS60157.1

UniProtKB/TrEMBL

A0A1B0GUE9

Related

ENSP00000384446.2, ENST00000404627.3

Conserved Domains (2) summary

pfam11878
Location:71 → 159

DUF3398; Domain of unknown function (DUF3398)

cl14603
Location:560 → 600

C2; C2 domain
NM_001330614.2 → NP_001317543.1 dedicator of cytokinesis protein 7 isoform 6

Status: REVIEWED

Source sequence(s)

AC096946, AC103923, AL138847, AL451044

Consensus CDS

CCDS81338.1

UniProtKB/TrEMBL

A0A2X0SSK2

Related

ENSP00000251157.6, ENST00000251157.10

Conserved Domains (3) summary

cd08696
Location:560 → 737

C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins

cd11703
Location:1635 → 2109

DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7

pfam11878
Location:71 → 159

DUF3398; Domain of unknown function (DUF3398)
NM_001367561.1 → NP_001354490.1 dedicator of cytokinesis protein 7 isoform 7

Status: REVIEWED

Source sequence(s)

AC096946, AC103923, AL138847, AL451044

Consensus CDS

CCDS90964.1

UniProtKB/Swiss-Prot

Q00M63, Q2PPY7, Q45RE8, Q45RE9, Q5T1B9, Q5T1C0, Q6ZV32, Q8TB82, Q96N67, Q96NG6, Q96NI0, Q9C092

UniProtKB/TrEMBL

A0A2X0SSK2

Related

ENSP00000489124.1, ENST00000635253.2
NM_033407.4 → NP_212132.2 dedicator of cytokinesis protein 7 isoform 2

See identical proteins and their annotated locations for NP_212132.2

Status: REVIEWED

Source sequence(s)

AB051558, AC103923, AK125049, BG190976, BU567903, DQ341187, DR002667

Consensus CDS

CCDS30734.1

UniProtKB/TrEMBL

A0A2X0SSK2

Related

ENSP00000340742.5, ENST00000340370.10

Conserved Domains (3) summary

cd08696
Location:560 → 737

C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins

cd11703
Location:1613 → 2087

DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7

pfam11878
Location:71 → 159

DUF3398; Domain of unknown function (DUF3398)

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_000001.11 Reference GRCh38.p14 Primary Assembly

Range

62454726..62688386 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047432967.1 → XP_047288923.1 dedicator of cytokinesis protein 7 isoform X6

UniProtKB/TrEMBL

A0A2X0SSK2
XM_047432966.1 → XP_047288922.1 dedicator of cytokinesis protein 7 isoform X5

UniProtKB/TrEMBL

A0A2X0SSK2
XM_017002639.2 → XP_016858128.1 dedicator of cytokinesis protein 7 isoform X4

UniProtKB/TrEMBL

A0A2X0SSK2
XM_047432964.1 → XP_047288920.1 dedicator of cytokinesis protein 7 isoform X3

UniProtKB/TrEMBL

A0A2X0SSK2
XM_011542328.3 → XP_011540630.1 dedicator of cytokinesis protein 7 isoform X2

UniProtKB/TrEMBL

A0A2X0SSK2

Conserved Domains (3) summary

cd08696
Location:560 → 737

C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins

cd11703
Location:1644 → 2113

DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7

pfam11878
Location:71 → 159

DUF3398; Domain of unknown function (DUF3398)
XM_011542327.3 → XP_011540629.1 dedicator of cytokinesis protein 7 isoform X1

UniProtKB/TrEMBL

A0A2X0SSK2

Conserved Domains (3) summary

cd08696
Location:560 → 737

C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins

cd11703
Location:1644 → 2116

DHR2_DOCK7; Dock Homology Region 2, a GEF domain, of Class C Dedicator of Cytokinesis 7

pfam11878
Location:71 → 159

DUF3398; Domain of unknown function (DUF3398)
XM_011542330.3 → XP_011540632.1 dedicator of cytokinesis protein 7 isoform X8

Conserved Domains (3) summary

cd08696
Location:560 → 737

C2_Dock-C; C2 domains found in Dedicator Of CytoKinesis (Dock) class C proteins

pfam11878
Location:71 → 159

DUF3398; Domain of unknown function (DUF3398)

cl06123
Location:1644 → 1834

DHR2_DOCK; Dock Homology Region 2, a GEF domain, of Dedicator of Cytokinesis proteins
XM_017002640.2 → XP_016858129.1 dedicator of cytokinesis protein 7 isoform X7

Alternate T2T-CHM13v2.0

Genomic

NC_060925.1 Alternate T2T-CHM13v2.0

Range

62333313..62566591 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054339329.1 → XP_054195304.1 dedicator of cytokinesis protein 7 isoform X6

UniProtKB/TrEMBL

A0A2X0SSK2
XM_054339328.1 → XP_054195303.1 dedicator of cytokinesis protein 7 isoform X5

UniProtKB/TrEMBL

A0A2X0SSK2
XM_054339327.1 → XP_054195302.1 dedicator of cytokinesis protein 7 isoform X4

UniProtKB/TrEMBL

A0A2X0SSK2
XM_054339326.1 → XP_054195301.1 dedicator of cytokinesis protein 7 isoform X3

UniProtKB/TrEMBL

A0A2X0SSK2
XM_054339325.1 → XP_054195300.1 dedicator of cytokinesis protein 7 isoform X2

UniProtKB/TrEMBL

A0A2X0SSK2
XM_054339324.1 → XP_054195299.1 dedicator of cytokinesis protein 7 isoform X1

UniProtKB/TrEMBL

A0A2X0SSK2
XM_054339331.1 → XP_054195306.1 dedicator of cytokinesis protein 7 isoform X8
XM_054339330.1 → XP_054195305.1 dedicator of cytokinesis protein 7 isoform X7