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ROBO4

Chr 11q24.2

roundabout guidance receptor 4

Aliases:
FLJ20798, MRB, ECSM4
MANE:
ENST00000306534.8

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • aortic valve disorder

    0.71
  • Ascending tubular aorta aneurysm

    0.42
  • Bicuspid aortic valve

    0.42
  • familial bicuspid aortic valve

    0.38
  • neurodegenerative disease

    0.33
  • thoracic aortic aneurysm

    0.33
  • cardiac arrest

    0.20
  • congenital diaphragmatic hernia

    0.20
  • familial thoracic aortic aneurysm and aortic dissection

    0.18
  • Rare disease with thoracic aortic aneurysm and aortic dissection

    0.17

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

Protein function (UniProt)

Roundabout homolog 4

Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins (By similarity). Involved in the maintenance of endothelial barrier organization and function (PubMed:30455415)

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.