Entity Details

Primary name ROBO4
Entity type gene
Source Source Link

Details

PrimaryID54538
RefseqGene
SymbolROBO4
Nameroundabout guidance receptor 4
Chromosome11
Location11q24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-08-26
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsROBO4_HUMAN

GO terms

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GOName
GO:0001525 angiogenesis
GO:0005886 plasma membrane
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007411 axon guidance
GO:0016021 integral component of membrane
GO:0030334 regulation of cell migration
GO:0030424 axon
GO:0038023 signaling receptor activity
GO:0061028 establishment of endothelial barrier
GO:0070062 extracellular exosome
GO:0070593 dendrite self-avoidance
GO:0098632 cell-cell adhesion mediator activity

Diseases

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Disease IDSourceNameDescription
618496 OMIMAortic valve disease 3 (AOVD3)A common defect in the aortic valve in which two rather than three leaflets are present. It is often associated with aortic valve calcification, stenosis and insufficiency. In extreme cases, the blood flow may be so restricted that the left ventricle fails to grow, resulting in hypoplastic left heart syndrome. AOVD3 features are bicuspid aortic valve, aortic valve stenosis, and ascending aortic aneurysm. Some patients have atrial septal defects. AOVD3 inheritance is autosomal dominant with incomplete penetrance. Disease susceptibility is associated with variants affecting the gene represented in this entry.