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Gene : DOCK2 Homo sapiens

Name  ? dedicator of cytokinesis 2 Cytological Location  5q35.1
Brief Description  dedicator of cytokinesis 2
description  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]
  • synonyms:
  • NM_004946,
  • KIAA0209,
  • BC016996,
  • DOCK2,
  • HGNC:2988,
  • uc003maf.3,
  • OTTHUMG00000130437,
  • dedicator of cyto-kinesis 2,
  • IMD40
  • identifiers:
  • 1794,
  • ENSG00000134516,
  • DOCK2

Genome feature

Region: gene ? Length: 446136  
Location: 5:169637247-170083382 Cyto location: 5q35.1


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

22 SN Ps

5 Cross References

20 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results