ROBO2 Chromosome 3
Roundabout guidance receptor 2
Upload your DNA to see your personal genotypes for variants in ROBO2.
What This Gene Does
The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Gene Info
Gene Group
"Fibronectin type III domain containing|I-set domain containing|Ig-like cell adhesion molecule family"
Locus Type
gene with protein product
Location
3p12.3
Ensembl
ENSG00000185008
Associated Conditions (4)
Vesicoureteral reflux 2
Congenital anomaly of kidney and urinary tract
ROBO2-related disorder
Inborn genetic diseases
Key Variants
RS139552984
Conflicting classifications of pathogenicity
Vesicoureteral reflux 2, Vesicoureteral reflux 2
Health Risk
RS188582283
Conflicting classifications of pathogenicity
Vesicoureteral reflux 2, Congenital anomaly of kidney and urinary tract, Vesicoureteral reflux 2
Health Risk
RS200131009
Conflicting classifications of pathogenicity
Vesicoureteral reflux 2, ROBO2-related disorder, Vesicoureteral reflux 2
Health Risk
RS200834587
Conflicting classifications of pathogenicity
Inborn genetic diseases, ROBO2-related disorder, Inborn genetic diseases
Health Risk
RS201356083
Conflicting classifications of pathogenicity
Vesicoureteral reflux 2, ROBO2-related disorder, Vesicoureteral reflux 2
Health Risk
RS372105678
Conflicting classifications of pathogenicity
Vesicoureteral reflux 2, Vesicoureteral reflux 2
Health Risk
RS372255515
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS372913645
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS373371736
Conflicting classifications of pathogenicity
Vesicoureteral reflux 2, Vesicoureteral reflux 2
Health Risk
RS374166639
Conflicting classifications of pathogenicity
Inborn genetic diseases, ROBO2-related disorder, Vesicoureteral reflux 2
Health Risk
RS746150931
Conflicting classifications of pathogenicity
ROBO2-related disorder, Vesicoureteral reflux 2, ROBO2-related disorder
Health Risk
RS747011633
Conflicting classifications of pathogenicity
Vesicoureteral reflux 2, Vesicoureteral reflux 2
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139552984 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Vesicoureteral reflux 2 |
| RS188582283 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Congenital anomaly of kidney and urinary tract, Vesicoureteral reflux 2 |
| RS200131009 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, ROBO2-related disorder, Vesicoureteral reflux 2 |
| RS200834587 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ROBO2-related disorder, Inborn genetic diseases |
| RS201356083 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, ROBO2-related disorder, Vesicoureteral reflux 2 |
| RS372105678 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Vesicoureteral reflux 2 |
| RS372255515 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS372913645 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373371736 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Vesicoureteral reflux 2 |
| RS374166639 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ROBO2-related disorder, Vesicoureteral reflux 2 |
| RS746150931 | Health Risk | Conflicting classifications of pathogenicity | ROBO2-related disorder, Vesicoureteral reflux 2, ROBO2-related disorder |
| RS747011633 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Vesicoureteral reflux 2 |
| RS747971442 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Vesicoureteral reflux 2 |
| RS759802937 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Congenital anomaly of kidney and urinary tract, Vesicoureteral reflux 2 |
| RS761048204 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Inborn genetic diseases, Vesicoureteral reflux 2 |
| RS762523752 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Inborn genetic diseases, Vesicoureteral reflux 2 |
| RS766273161 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Inborn genetic diseases, Vesicoureteral reflux 2 |
| RS780171319 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Vesicoureteral reflux 2 |
| RS780623744 | Health Risk | Conflicting classifications of pathogenicity | Vesicoureteral reflux 2, Congenital anomaly of kidney and urinary tract, Vesicoureteral reflux 2 |