ROBO4 Chromosome 11
Roundabout guidance receptor 4
Upload your DNA to see your personal genotypes for variants in ROBO4.
What This Gene Does
Predicted to enable cell-cell adhesion mediator activity. Involved in establishment of endothelial barrier. Located in extracellular exosome. Implicated in aortic valve disease 3. Biomarker of pre-eclampsia and thyroid gland carcinoma. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing"
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000154133
Associated Conditions (7)
Aortic valve disease 3
Familial thoracic aortic aneurysm and aortic dissection
ROBO4-related disorder
Ascending tubular aorta aneurysm
Bicuspid aortic valve
Thoracic aortic aneurysm
Congenital diaphragmatic hernia
Key Variants
RS145067866
Conflicting classifications of pathogenicity
Aortic valve disease 3, Familial thoracic aortic aneurysm and aortic dissection, ROBO4-related disorder
Health Risk
RS145535350
Conflicting classifications of pathogenicity
Aortic valve disease 3, Aortic valve disease 3
Health Risk
RS150700978
Conflicting classifications of pathogenicity
Ascending tubular aorta aneurysm, Bicuspid aortic valve, Aortic valve disease 3
Health Risk
RS201393279
Conflicting classifications of pathogenicity
Aortic valve disease 3, Bicuspid aortic valve, Ascending tubular aorta aneurysm
Health Risk
RS201492213
Conflicting classifications of pathogenicity
Ascending tubular aorta aneurysm, Bicuspid aortic valve, Aortic valve disease 3
Health Risk
RS138111911
Likely pathogenic
Ascending tubular aorta aneurysm, Bicuspid aortic valve, Ascending tubular aorta aneurysm
Health Risk
RS138370967
Likely pathogenic
Ascending tubular aorta aneurysm, Bicuspid aortic valve, ROBO4-related disorder
Health Risk
RS1565322176
Likely pathogenic
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Bicuspid aortic valve
Health Risk
RS1565326476
Likely pathogenic
Ascending tubular aorta aneurysm, Bicuspid aortic valve, Ascending tubular aorta aneurysm
Health Risk
RS2135366023
Likely pathogenic
Thoracic aortic aneurysm, Thoracic aortic aneurysm
Health Risk
RS2135378156
Likely pathogenic
Aortic valve disease 3, Aortic valve disease 3
Health Risk
RS2497396246
Likely pathogenic
Aortic valve disease 3, Aortic valve disease 3
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS145067866 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 3, Familial thoracic aortic aneurysm and aortic dissection, ROBO4-related disorder |
| RS145535350 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 3, Aortic valve disease 3 |
| RS150700978 | Health Risk | Conflicting classifications of pathogenicity | Ascending tubular aorta aneurysm, Bicuspid aortic valve, Aortic valve disease 3 |
| RS201393279 | Health Risk | Conflicting classifications of pathogenicity | Aortic valve disease 3, Bicuspid aortic valve, Ascending tubular aorta aneurysm |
| RS201492213 | Health Risk | Conflicting classifications of pathogenicity | Ascending tubular aorta aneurysm, Bicuspid aortic valve, Aortic valve disease 3 |
| RS138111911 | Health Risk | Likely pathogenic | Ascending tubular aorta aneurysm, Bicuspid aortic valve, Ascending tubular aorta aneurysm |
| RS138370967 | Health Risk | Likely pathogenic | Ascending tubular aorta aneurysm, Bicuspid aortic valve, ROBO4-related disorder |
| RS1565322176 | Health Risk | Likely pathogenic | Bicuspid aortic valve, Ascending tubular aorta aneurysm, Bicuspid aortic valve |
| RS1565326476 | Health Risk | Likely pathogenic | Ascending tubular aorta aneurysm, Bicuspid aortic valve, Ascending tubular aorta aneurysm |
| RS2135366023 | Health Risk | Likely pathogenic | Thoracic aortic aneurysm, Thoracic aortic aneurysm |
| RS2135378156 | Health Risk | Likely pathogenic | Aortic valve disease 3, Aortic valve disease 3 |
| RS2497396246 | Health Risk | Likely pathogenic | Aortic valve disease 3, Aortic valve disease 3 |
| RS753955773 | Health Risk | Likely pathogenic | — |
| RS755569942 | Health Risk | Likely pathogenic | Bicuspid aortic valve, Ascending tubular aorta aneurysm, Bicuspid aortic valve |
| RS755747435 | Health Risk | Likely pathogenic | Ascending tubular aorta aneurysm, Bicuspid aortic valve, Ascending tubular aorta aneurysm |
| RS764038221 | Health Risk | Likely pathogenic | Aortic valve disease 3, Bicuspid aortic valve, Ascending tubular aorta aneurysm |
| RS776228672 | Health Risk | Likely pathogenic | Thoracic aortic aneurysm, Thoracic aortic aneurysm |
| RS779392207 | Health Risk | Likely pathogenic | Bicuspid aortic valve, Ascending tubular aorta aneurysm, Bicuspid aortic valve |
| RS756636036 | Health Risk | risk factor | Congenital diaphragmatic hernia, Congenital diaphragmatic hernia |