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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ROBO4
roundabout guidance receptor 4
Chromosome 11 Β· 11q24.2
NCBI Gene: 54538Ensembl: ENSG00000154133.15HGNC: HGNC:17985UniProt: B4DYV8
66PubMed Papers
21Diseases
0Drugs
15Pathogenic Variants
FUNCTIONAL ROLE
Receptor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingangiogenesisestablishment of endothelial barrierextracellular exosomeaortic valve diseaseAscending tubular aorta aneurysmBicuspid aortic valvefamilial bicuspid aortic valve
✦AI Summary

ROBO4 is an endothelial-specific transmembrane receptor that functions as a key mediator of vascular development and homeostasis 1. As a receptor for Slit proteins, particularly SLIT2, ROBO4 regulates endothelial cell migration, proliferation, and angiogenesis while maintaining vascular integrity and barrier function 21. ROBO4 expression is controlled by transcription factors (SP1, ETV2) and epigenetically regulated through DNA methylation and TET2-mediated demethylation 34. Clinically, ROBO4 variants are associated with bicuspid aortic valve and thoracic aortic aneurysm, where impaired ROBO4 function causes endothelial barrier dysfunction and endothelial-to-mesenchymal transition 2. ROBO4 dysfunction also contributes to septic shock pathology through increased vascular permeability 5. In diabetic retinopathy, TET2-mediated ROBO4 hypomethylation increases ROBO4 expression, promoting retinal vascular leakage and neovascularization 6. Conversely, in bladder cancer, miR-204 suppresses ROBO4 to inhibit cell growth and metastasis, suggesting context-dependent roles in pathological angiogenesis 7. ROBO4 represents a promising therapeutic target for treating both developmental angiogenesis defects and pathological conditions including ocular neovascularization and tumors 1.

Sources cited
1
ROBO4 variants segregate with bicuspid aortic valve and thoracic aortic aneurysm; ROBO4 maintains endothelial barrier function and its mutation causes endothelial-to-mesenchymal transition
PMID: 30455415
2
ROBO4 is endothelial-specific and participates in endothelial cell migration, proliferation, angiogenesis, and vascular homeostasis; regulated by shear stress and transcription factors ETV2
PMID: 31160487
3
ROBO4 expression is regulated by transcription factors SP1 and GABP and epigenetically controlled by DNA methylation
PMID: 24989473
4
Slit/Robo4 pathway is involved in vascular permeability in septic shock and represents a therapeutic target
PMID: 29149941
5
TET2-mediated demethylation of ROBO4 promoter increases ROBO4 expression in hyperglycemia, promoting retinal vascular leakage and neovascularization in diabetic retinopathy
PMID: 37430272
6
miR-204 suppresses ROBO4 to inhibit bladder cancer cell growth, migration, and invasion
PMID: 31802889
7
ROBO4 participates in pathological angiogenesis, cell invasion, and metastasis during liver cancer development
PMID: 37238655
Disease Associationsβ“˜21
aortic valve diseaseOpen Targets
0.76Strong
Ascending tubular aorta aneurysmOpen Targets
0.42Moderate
Bicuspid aortic valveOpen Targets
0.42Moderate
familial bicuspid aortic valveOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.33Weak
thoracic aortic aneurysmOpen Targets
0.33Weak
cardiac arrestOpen Targets
0.21Weak
congenital diaphragmatic herniaOpen Targets
0.19Weak
familial thoracic aortic aneurysm and aortic dissectionOpen Targets
0.18Weak
Rare disease with thoracic aortic aneurysm and aortic dissectionOpen Targets
0.17Weak
neoplasmOpen Targets
0.10Weak
posterior cortical atrophyOpen Targets
0.08Suggestive
lung cancerOpen Targets
0.08Suggestive
Duane retraction syndromeOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
acute myeloid leukemiaOpen Targets
0.05Suggestive
hypoinsulinemic hypoglycemia and body hemihypertrophyOpen Targets
0.04Suggestive
acute kidney injuryOpen Targets
0.04Suggestive
HyperglycemiaOpen Targets
0.04Suggestive
cancerOpen Targets
0.03Suggestive
Aortic valve disease 3UniProt
Pathogenic Variants15
NM_019055.6(ROBO4):c.1042_1048dupLikely pathogenic
Aortic valve disease 3
β˜…β˜†β˜†β˜†2024
NM_019055.6(ROBO4):c.2041del (p.Leu681fs)Likely pathogenic
Aortic valve disease 3
β˜…β˜†β˜†β˜†2023β†’ Residue 681
NM_019055.6(ROBO4):c.980_981del (p.Ser327fs)Likely pathogenic
Aortic valve disease 3
β˜…β˜†β˜†β˜†2022β†’ Residue 327
NM_019055.6(ROBO4):c.1146C>G (p.Tyr382Ter)Likely pathogenic
Aortic valve disease 3
β˜…β˜†β˜†β˜†2022β†’ Residue 382
NM_019055.6(ROBO4):c.679+1G>TLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2021
NM_019055.6(ROBO4):c.839A>C (p.Tyr280Ser)Likely pathogenic
Ascending tubular aorta aneurysm;Bicuspid aortic valve
β˜…β˜†β˜†β˜†β†’ Residue 280
NM_019055.6(ROBO4):c.740T>C (p.Val247Ala)Likely pathogenic
Bicuspid aortic valve;Ascending tubular aorta aneurysm
β˜…β˜†β˜†β˜†β†’ Residue 247
NM_019055.6(ROBO4):c.2245_2246delinsCT (p.Ala749Leu)Likely pathogenic
Bicuspid aortic valve;Ascending tubular aorta aneurysm
β˜…β˜†β˜†β˜†β†’ Residue 749
NM_019055.6(ROBO4):c.283G>A (p.Ala95Thr)Likely pathogenic
Ascending tubular aorta aneurysm;Bicuspid aortic valve|ROBO4-related disorder
β˜…β˜†β˜†β˜†β†’ Residue 95
NM_019055.6(ROBO4):c.2056+1G>TLikely pathogenic
Aortic valve disease 3|Bicuspid aortic valve;Ascending tubular aorta aneurysm
β˜…β˜†β˜†β˜†
NM_019055.6(ROBO4):c.1864G>C (p.Asp622His)Likely pathogenic
Ascending tubular aorta aneurysm;Bicuspid aortic valve
β˜…β˜†β˜†β˜†β†’ Residue 622
NM_019055.6(ROBO4):c.1601_1614del (p.Gly534fs)Likely pathogenic
Bicuspid aortic valve;Ascending tubular aorta aneurysm
β˜…β˜†β˜†β˜†β†’ Residue 534
NM_019055.6(ROBO4):c.1233T>A (p.His411Gln)Likely pathogenic
Ascending tubular aorta aneurysm;Bicuspid aortic valve
β˜…β˜†β˜†β˜†β†’ Residue 411
NM_019055.6(ROBO4):c.703G>A (p.Val235Met)Likely pathogenic
Thoracic aortic aneurysm
β˜†β˜†β˜†β˜†β†’ Residue 235
NM_019055.6(ROBO4):c.2389G>T (p.Glu797Ter)Likely pathogenic
Thoracic aortic aneurysm
β˜†β˜†β˜†β˜†β†’ Residue 797
View on ClinVar β†—
Related Genes
SLIT3Protein interaction100%SLIT2Protein interaction100%ROBO1Protein interaction99%SLIT1Protein interaction99%UNC5BProtein interaction91%PXNProtein interaction86%
Tissue Expression6 tissues
Lung
100%
Heart
86%
Liver
18%
Ovary
16%
Brain
10%
Bone Marrow
4%
Gene Interaction Network
Click a node to explore
ROBO4SLIT3SLIT2ROBO1SLIT1UNC5BPXN
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8WZ75
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.91LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.76 [0.63–0.91]
RankingsWhere ROBO4 stands among ~20K protein-coding genes
  • #7,115of 20,598
    Most Researched66
  • #2,460of 5,498
    Most Pathogenic Variants15
  • #8,341of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedROBO4
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Pathophysiology of Septic Shock.
PMID: 29149941
Crit Care Clin Β· 2018
1.00
2
ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.
PMID: 30455415
Nat Genet Β· 2019
0.90
3
Regulatory mechanisms of Robo4 and their effects on angiogenesis.
PMID: 31160487
Biosci Rep Β· 2019
0.80
4
Role of ROBO4 signalling in developmental and pathological angiogenesis.
PMID: 24689049
Biomed Res Int Β· 2014
0.70
5
[Regulation of endothelial cell-specific Robo4 gene expression by DNA methylation and non-lineage specific transcription factors].
PMID: 24989473
Yakugaku Zasshi Β· 2014
0.60