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DOCK4

Chr 7q31.1

dedicator of cytokinesis 4

Aliases:
FLJ34238, KIAA0716
MANE:
ENST00000428084.6
OMIM: 607679 ↗NCBI: 9732 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • neurodevelopmental disorder

    0.48

  • Intellectual disability

    0.37

  • poisoning

    0.33

  • liver disorder

    0.28

  • response to xenobiotic stimulus

    0.26

  • Thrombophlebitis

    0.26

  • metabolic disease

    0.26

  • urethral syndrome

    0.26

  • Shock

    0.26

  • phlebitis

    0.26

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

Protein function (UniProt)

Dedicator of cytokinesis protein 4

Functions as a guanine nucleotide exchange factor (GEF) that promotes the exchange of GDP to GTP, converting inactive GDP-bound small GTPases into their active GTP-bound form (PubMed:12628187, PubMed:16464467). Involved in regulation of adherens junction between cells (PubMed:12628187). Plays a role in cell migration (PubMed:20679435)

Diseases associated with DOCK4

Curated MONDO disease pages that list DOCK4 among their top associated genes.

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.