DOCK2 dedicator of cytokinesis 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DOCK2provided by HGNC
Official Full Name: dedicator of cytokinesis 2provided by HGNC
Primary source: HGNC:HGNC:2988
See related: Ensembl:ENSG00000134516 MIM:603122; AllianceGenome:HGNC:2988
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: IMD40
Summary: The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell number and function, also with variable defects in B cell and NK cell function. [provided by RefSeq, May 2018]
Expression: Broad expression in lymph node (RPKM 13.3), bone marrow (RPKM 11.2) and 15 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q35.1

Exon count:: 59

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (169637275..170083382)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (170172648..170621822)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (169064279..169510386)

Chromosome 5 - NC_000005.10 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
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?

DOCK2 Promotes Atherosclerosis by Mediating the Endothelial Cell Inflammatory Response.
Title: DOCK2 Promotes Atherosclerosis by Mediating the Endothelial Cell Inflammatory Response.
DOCK2 Promotes Asthma Development by Eliciting Airway Epithelial-Mesenchymal Transition.
Title: DOCK2 Promotes Asthma Development by Eliciting Airway Epithelial-Mesenchymal Transition.
Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine.
Title: Multiple Immune Defects in Two Patients with Novel DOCK2 Mutations Result in Recurrent Multiple Infection Including Live Attenuated Virus Vaccine.
DOCK2 Deficiency Attenuates Abdominal Aortic Aneurysm Formation-Brief Report.
Title: DOCK2 Deficiency Attenuates Abdominal Aortic Aneurysm Formation-Brief Report.
Extra-hematopoietic immunomodulatory role of the guanine-exchange factor DOCK2.
Title: Extra-hematopoietic immunomodulatory role of the guanine-exchange factor DOCK2.
DOCK2 is involved in the host genetics and biology of severe COVID-19.
Title: DOCK2 is involved in the host genetics and biology of severe COVID-19.
DOCK2 contributes to pulmonary fibrosis by promoting lung fibroblast to myofibroblast transition.
Title: DOCK2 contributes to pulmonary fibrosis by promoting lung fibroblast to myofibroblast transition.
DOCK2 regulates antifungal immunity by regulating RAC GTPase activity.
Title: DOCK2 regulates antifungal immunity by regulating RAC GTPase activity.
DOCK2 Promotes Pleural Fibrosis by Modulating Mesothelial to Mesenchymal Transition.
Title: DOCK2 Promotes Pleural Fibrosis by Modulating Mesothelial to Mesenchymal Transition.
DOCK2 Deficiency Diagnosed 18 Years After Hematopoietic Stem Cell Transplantation.
Title: DOCK2 Deficiency Diagnosed 18 Years After Hematopoietic Stem Cell Transplantation.

Submit: New GeneRIF Correction See all GeneRIFs (41)

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
DOCK2 deficiency MedGen: C4225328 OMIM: 616433 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association study identifies protein quantitative trait loci (pQTLs). EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. 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)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Nef	nef	Interaction of HIV-1 Nef with a protein complex, which includes Rac2, DOCK2, and ELMO1, activates Rac activity in T cells	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-84601 (e-PCR)
- UniSTS:102929

DXS9762 (e-PCR)
- UniSTS:66325

bac51983T (e-PCR)
- UniSTS:181536

SGC32167 (e-PCR)
- UniSTS:82994

D5S504 (e-PCR), detects polymorphism
- UniSTS:48184

D5S504 (e-PCR), detects polymorphism
- UniSTS:31312

SHGC-154862 (e-PCR)
- UniSTS:184147

D5S1445 (e-PCR)
- UniSTS:8788

RH45919 (e-PCR)
- UniSTS:66905

D5S1973 (e-PCR), detects polymorphism
- UniSTS:38519

D5S1713 (e-PCR)
- UniSTS:75148

D5S596 (e-PCR)
- UniSTS:34962

D5S1874 (e-PCR)
- UniSTS:60056

SHGC-78709 (e-PCR)
- UniSTS:184217

G60533 (e-PCR)
- UniSTS:137639

bac51192T (e-PCR)
- UniSTS:181433

bac51362S (e-PCR)
- UniSTS:181450

RH25421 (e-PCR)
- UniSTS:5858

WI-18461 (e-PCR)
- UniSTS:54246

D5S1961 (e-PCR), detects polymorphism
- UniSTS:31483

L31470 (e-PCR)
- UniSTS:48894

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables GTPase activator activity	IEA Inferred from Electronic Annotation more info
enables T cell receptor binding	IDA Inferred from Direct Assay more info	PubMed
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 guanyl-nucleotide exchange factor activity	TAS Traceable Author Statement 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 actin cytoskeleton organization	TAS Traceable Author Statement more info	PubMed
involved_in alpha-beta T cell proliferation	IEA Inferred from Electronic Annotation more info
involved_in cell migration	IBA Inferred from Biological aspect of Ancestor more info
involved_in chemotaxis	IEA Inferred from Electronic Annotation more info
involved_in establishment of T cell polarity	IEA Inferred from Electronic Annotation more info
involved_in immunological synapse formation	IEA Inferred from Electronic Annotation more info
involved_in macropinocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in membrane raft polarization	IEA Inferred from Electronic Annotation more info
involved_in myeloid dendritic cell activation involved in immune response	ISS Inferred from Sequence or Structural Similarity more info
involved_in myoblast fusion	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative thymic T cell selection	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of phagocytosis	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive thymic T cell selection	IEA Inferred from Electronic Annotation more info
involved_in regulation of small GTPase mediated signal transduction	TAS Traceable Author Statement more info
involved_in small GTPase-mediated signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoskeleton	IEA Inferred from Electronic Annotation more info
located_in cytosol	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in membrane	HDA more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in specific granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: dedicator of cytokinesis protein 2

Names: dedicator of cyto-kinesis 2

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_051800.1 RefSeqGene

Range

5029..451136

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_1227

mRNA and Protein(s)

NM_004946.3 → NP_004937.1 dedicator of cytokinesis protein 2

See identical proteins and their annotated locations for NP_004937.1

Status: REVIEWED

Source sequence(s)

AK128449, BC084556, BC104900, BC113457, DB145764

Consensus CDS

CCDS4371.1

UniProtKB/Swiss-Prot

Q2M3I0, Q92608, Q96AK7

UniProtKB/TrEMBL

A0A2X0SFD3

Related

ENSP00000429283.3, ENST00000520908.7

Conserved Domains (4) summary

cd11706
Location:1200 → 1620

DHR2_DOCK2; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 2

cd12050
Location:12 → 67

SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2

pfam16172
Location:71 → 414

DOCK_N; DOCK N-terminus

cl14603
Location:422 → 617

C2; C2 domain

RNA

NR_156756.1 RNA Sequence

Status: REVIEWED

Source sequence(s)

AK128449, BC084556, BC104900, BC113457, BC143358, DB145764

Related

ENST00000524185.5

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

169637275..170083382

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011534449.3 → XP_011532751.1 dedicator of cytokinesis protein 2 isoform X2

UniProtKB/TrEMBL

E5RFJ0, H0YB76

Related

ENSP00000428841.2, ENST00000519628.2

Conserved Domains (3) summary

cd12050
Location:12 → 67

SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2

pfam16172
Location:71 → 414

DOCK_N; DOCK N-terminus

cl14603
Location:422 → 617

C2; C2 domain
XM_017009190.3 → XP_016864679.1 dedicator of cytokinesis protein 2 isoform X4

UniProtKB/TrEMBL

E5RFJ0
XM_011534451.3 → XP_011532753.1 dedicator of cytokinesis protein 2 isoform X5

UniProtKB/TrEMBL

E5RFJ0

Conserved Domains (3) summary

cd12050
Location:12 → 67

SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2

pfam16172
Location:71 → 414

DOCK_N; DOCK N-terminus

cl14603
Location:422 → 617

C2; C2 domain
XM_011534450.3 → XP_011532752.1 dedicator of cytokinesis protein 2 isoform X3

UniProtKB/TrEMBL

E5RFJ0

Conserved Domains (3) summary

cd12050
Location:12 → 67

SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2

pfam16172
Location:71 → 414

DOCK_N; DOCK N-terminus

cl14603
Location:422 → 617

C2; C2 domain
XM_011534448.3 → XP_011532750.1 dedicator of cytokinesis protein 2 isoform X1

UniProtKB/TrEMBL

E5RFJ0

Conserved Domains (3) summary

cd12050
Location:12 → 67

SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2

pfam16172
Location:71 → 414

DOCK_N; DOCK N-terminus

cl14603
Location:422 → 617

C2; C2 domain
XM_005265830.5 → XP_005265887.1 dedicator of cytokinesis protein 2 isoform X6

UniProtKB/TrEMBL

E5RFJ0

Conserved Domains (3) summary

cd12050
Location:12 → 67

SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2

pfam16172
Location:71 → 414

DOCK_N; DOCK N-terminus

cl14603
Location:422 → 617

C2; C2 domain

Alternate T2T-CHM13v2.0

Genomic

NC_060929.1 Alternate T2T-CHM13v2.0

Range

170172648..170621822

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054351951.1 → XP_054207926.1 dedicator of cytokinesis protein 2 isoform X2

UniProtKB/TrEMBL

H0YB76
XM_054351953.1 → XP_054207928.1 dedicator of cytokinesis protein 2 isoform X4
XM_054351954.1 → XP_054207929.1 dedicator of cytokinesis protein 2 isoform X5
XM_054351952.1 → XP_054207927.1 dedicator of cytokinesis protein 2 isoform X3
XM_054351950.1 → XP_054207925.1 dedicator of cytokinesis protein 2 isoform X1
XM_054351955.1 → XP_054207930.1 dedicator of cytokinesis protein 2 isoform X6