ENSG00000134516


Homo sapiens

Features
Gene ID: ENSG00000134516
  
Biological name :DOCK2
  
Synonyms : dedicator of cytokinesis 2 / DOCK2 / Q92608
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 5
Strand: 1
Band: q35.1
Gene start: 169637247
Gene end: 170083382
  
Corresponding Affymetrix probe sets: 1554325_at (Human Genome U133 Plus 2.0 Array)   213160_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000428850
Ensembl peptide - ENSP00000428841
Ensembl peptide - ENSP00000429283
Ensembl peptide - ENSP00000438827
Ensembl peptide - ENSP00000256935
Ensembl peptide - ENSP00000393451
NCBI entrez gene - 1794     See in Manteia.
OMIM - 603122
RefSeq - XM_017009190
RefSeq - NM_004946
RefSeq - XM_005265830
RefSeq - XM_011534448
RefSeq - XM_011534449
RefSeq - XM_011534450
RefSeq - XM_011534451
RefSeq - XM_017009189
RefSeq Peptide - NP_004937
swissprot - F6S220
swissprot - H0YB76
swissprot - E7ERW7
swissprot - E5RFJ0
swissprot - Q92608
swissprot - H7C082
Ensembl - ENSG00000134516
  
Related genetic diseases (OMIM): 616433 - Immunodeficiency 40, 616433
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 LO018106.1ENSDARG00000114649Danio rerio
 LO018106.2ENSDARG00000114803Danio rerio
 LO018564.1ENSDARG00000112944Danio rerio
 DOCK2ENSGALG00000002080Gallus gallus
 Dock2ENSMUSG00000020143Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DOCK1 / Q14185 / dedicator of cytokinesis 1ENSG0000015076060
DOCK5 / Q9H7D0 / dedicator of cytokinesis 5ENSG0000014745955
DOCK4 / Q8N1I0 / dedicator of cytokinesis 4ENSG0000012851236
DOCK3 / Q8IZD9 / dedicator of cytokinesis 3ENSG0000008853836


Protein motifs (from Interpro)
Interpro ID Name
 IPR001452  SH3 domain
 IPR010703  Dedicator of cytokinesis, C-terminal
 IPR011989  Armadillo-like helical
 IPR016024  Armadillo-type fold
 IPR026791  Dedicator of cytokinesis
 IPR026799  Dedicator of cytokinesis protein 2
 IPR027007  DHR-1 domain
 IPR027357  DHR-2 domain
 IPR032376  Dedicator of cytokinesis, N-terminal domain
 IPR036028  SH3-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001766 membrane raft polarization IEA
 biological_processGO:0001768 establishment of T cell polarity IEA
 biological_processGO:0001771 immunological synapse formation IEA
 biological_processGO:0002277 myeloid dendritic cell activation involved in immune response IEA
 biological_processGO:0006935 chemotaxis IEA
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007264 small GTPase mediated signal transduction IEA
 biological_processGO:0030036 actin cytoskeleton organization IEA
 biological_processGO:0042098 T cell proliferation IEA
 biological_processGO:0042110 T cell activation IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0043547 positive regulation of GTPase activity IEA
 biological_processGO:0044351 macropinocytosis IEA
 biological_processGO:0045059 positive thymic T cell selection IEA
 biological_processGO:0045060 negative thymic T cell selection IEA
 biological_processGO:0046631 alpha-beta T cell activation IEA
 biological_processGO:0046633 alpha-beta T cell proliferation IEA
 biological_processGO:0050690 regulation of defense response to virus by virus TAS
 biological_processGO:0050766 positive regulation of phagocytosis IEA
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005576 extracellular region TAS
 cellular_componentGO:0005622 intracellular IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0035580 specific granule lumen TAS
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005096 GTPase activator activity IEA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0030676 Rac guanyl-nucleotide exchange factor activity IDA
 molecular_functionGO:0042608 T cell receptor binding IDA


Pathways (from Reactome)
Pathway description
Nef and signal transduction
Neutrophil degranulation
Factors involved in megakaryocyte development and platelet production


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0002721 Immunodeficiency 
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 HP:0003577 Onset at birth 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000155849 ELMO1 / Q92556 / engulfment and cell motility 1  / reaction / complex
 ENSG00000136238 RAC1 / P63000 / Rac family small GTPase 1  / reaction / complex






 

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