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DOCK2

Chr 5q35.1

dedicator of cytokinesis 2

Aliases:
KIAA0209
MANE:
ENST00000520908.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • DOCK2 deficiency

    0.79
  • severe combined immunodeficiency

    0.37
  • HIV infectious disease

    0.37
  • bipolar disorder

    0.35
  • gestational diabetes

    0.33
  • muscle cramp

    0.31
  • protozoa infectious disease

    0.29
  • inflammatory bowel disease

    0.28
  • ulcerative colitis

    0.27
  • placental retention

    0.26

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Dedicator of cytokinesis protein 2

Guanine nucleotide exchange factor (GEF) that activates monomeric GTPases by catalysing the release of bound GDP in exchange for free GTP (PubMed:32651375). Activates RAC1 and RAC2, but not CDC42 (PubMed:21613211, PubMed:32651375). Involved in cytoskeletal rearrangements required for lymphocyte migration in response of chemokines (PubMed:21613211). May also participate in IL2 transcriptional activation via the activation of RAC2 (PubMed:21613211)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.