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

Gene ID: 1794, updated on 22-May-2022

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
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Genomic context

See DOCK2 in Genome Data Viewer
Location:
5q35.1
Exon count:
59
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (169637275..170083382)
110 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_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377714 Neighboring gene uncharacterized LOC105377715 Neighboring gene RNA, U6 small nuclear 477, pseudogene Neighboring gene spindle apparatus coiled-coil protein 1 Neighboring gene inhibitory synaptic factor family member 2B Neighboring gene Sharpr-MPRA regulatory region 8772 Neighboring gene microRNA 378e Neighboring gene keratin 18 pseudogene 41 Neighboring gene forkhead box I1

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

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
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
EBI GWAS Catalog

HIV-1 interactions

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46592, KIAA0209

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

General protein information

Preferred Names
dedicator of cytokinesis protein 2
Names
dedicator of cyto-kinesis 2

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_051800.1 RefSeqGene

    Range
    5029..451136
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1227

mRNA and Protein(s)

  1. NM_004946.3NP_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
    Q92608
    UniProtKB/TrEMBL
    Q5XG91
    Related
    ENSP00000429283.3, ENST00000520908.7
    Conserved Domains (4) summary
    cd11706
    Location:12001620
    DHR2_DOCK2; Dock Homology Region 2, a GEF domain, of Class A Dedicator of Cytokinesis 2
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain

RNA

  1. NR_156756.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AK128449, BC084556, BC104900, BC113457, BC143358, DB145764
    Related
    ENST00000524185.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    169637275..170083382
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    Related
    ENSP00000428841.2, ENST00000519628.2
    Conserved Domains (3) summary
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain
  2. XM_017009190.3XP_016864679.1  dedicator of cytokinesis protein 2 isoform X4

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

    Conserved Domains (3) summary
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain
  4. XM_011534450.3XP_011532752.1  dedicator of cytokinesis protein 2 isoform X3

    Conserved Domains (3) summary
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain
  5. XM_011534448.3XP_011532750.1  dedicator of cytokinesis protein 2 isoform X1

    Conserved Domains (3) summary
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain
  6. XM_005265830.5XP_005265887.1  dedicator of cytokinesis protein 2 isoform X6

    Conserved Domains (3) summary
    cd12050
    Location:1267
    SH3_DOCK2_A; Src Homology 3 domain of Class A Dedicator of Cytokinesis protein 2
    pfam16172
    Location:71414
    DOCK_N; DOCK N-terminus
    cl14603
    Location:422617
    C2; C2 domain

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    170172648..170621822
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)