DOCK5 dedicator of cytokinesis 5 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DOCK5provided by HGNC
Official Full Name: dedicator of cytokinesis 5provided by HGNC
Primary source: HGNC:HGNC:23476
See related: Ensembl:ENSG00000147459 MIM:616904; AllianceGenome:HGNC:23476
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 encodes a member of the dedicator of cytokinesis protein family. Members of this family act as guanine nucleotide exchange factors for small Rho family G proteins. The protein encoded by this gene is thought to associate with adaptors CRK and CRKL, and function in regulation of intestinal epithelial cell spreading and migration on collagen IV. Similar proteins in mouse and zebrafish also function in myoblast fusion. [provided by RefSeq, Oct 2016]
Expression: Ubiquitous expression in spleen (RPKM 6.2), small intestine (RPKM 5.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8p21.2

Exon count:: 53

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (25184689..25415711)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (25463647..25690937)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (25042204..25273227)

Chromosome 8 - NC_000008.11 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?

Dock5 Deficiency Promotes Proteinuric Kidney Diseases via Modulating Podocyte Lipid Metabolism.
Title: Dock5 Deficiency Promotes Proteinuric Kidney Diseases via Modulating Podocyte Lipid Metabolism.
PHF5A regulates the expression of the DOCK5 variant to promote HNSCC progression through p38 MAPK activation.
Title: PHF5A regulates the expression of the DOCK5 variant to promote HNSCC progression through p38 MAPK activation.
ZEB1 represses biogenesis of circ-DOCK5 to facilitate metastasis in esophageal squamous cell carcinoma via a positive feedback loop with TGF-beta.
Title: ZEB1 represses biogenesis of circ-DOCK5 to facilitate metastasis in esophageal squamous cell carcinoma via a positive feedback loop with TGF-β.
Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation.
Title: Positional cloning and comprehensive mutation analysis of a Japanese family with lithium-responsive bipolar disorder identifies a novel DOCK5 mutation.
We identified a novel candidate oncogenic DOCK5 variant confirmed using qRT-PCR in a separate primary tumor validation set. Loss- and gain-of-function experiments indicated that DOCK5 variant promoted proliferation, migration, and invasion of HPV-negative HNSCC cells, and patients with higher expression of DOCK5 variant showed decreased overall survival.
Title: Characterization of Alternative Splicing Events in HPV-Negative Head and Neck Squamous Cell Carcinoma Identifies an Oncogenic DOCK5 Variant.
Study combined biochemical and structural approaches to characterize the biochemical activity of human DOCK5DHR2 and its inhibition by small molecules C21, a small molecule that inhibits mouse Dock5 in cells and blocks bone degradation in mice models of osteoporosis, and CPYPP, which inhibits both DOCK5 and Trio. C21 uses intramolecular dynamics of DOCK5 and Rac1 to remodel the complex into an unproductive conformation.
Title: Allosteric inhibition of the guanine nucleotide exchange factor DOCK5 by a small molecule.
our work identifies DOCK5 as a key regulator of epithelial invasion and metastasis, and demonstrates that suppression of DOCK5 by GIT2 represents a previously unappreciated mechanism for coordination of Rho and Rac GTPases.
Title: The focal adhesion-associated proteins DOCK5 and GIT2 comprise a rheostat in control of epithelial invasion.
the potential role of DOCK5 in human obesity
Title: Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity.
along with DOCK1, DOCK5 is an important mediator of CrkII/CrkL regulation of Caco-2 spreading and migration on collagen IV.
Title: DOCK5 and DOCK1 regulate Caco-2 intestinal epithelial cell spreading and migration on collagen IV.

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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

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

D11S2921 (e-PCR)
- UniSTS:152074

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

D8S2106 (e-PCR)
- UniSTS:9783

L18426 (e-PCR)
- UniSTS:34648

D8S1489 (e-PCR)
- UniSTS:5726

D10S16 (e-PCR)
- UniSTS:155756

D8S1725 (e-PCR), detects polymorphism
- UniSTS:7553

G17209 (e-PCR)
- UniSTS:24716

SHGC-2824 (e-PCR)
- UniSTS:50063

SHGC-34359 (e-PCR)
- UniSTS:45728

RH66434 (e-PCR)
- UniSTS:3506

SHGC-145819 (e-PCR)
- UniSTS:174812

Clone Names

DKFZp451J181, DKFZp779M164, DKFZp781J211

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	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	ISS Inferred from Sequence or Structural Similarity more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables small GTPase binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in Rac protein signal transduction	IEA Inferred from Electronic Annotation more info
involved_in bone remodeling	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in myoblast fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of vascular associated smooth muscle contraction	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in podosome assembly	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of epithelial cell migration	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	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

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in cell projection	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	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	PubMed
located_in podosome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: dedicator of cytokinesis protein 5

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.