background:
Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development.
Involvement in disease:Defects in ROBO2 are the cause of vesicoureteral reflux type 2 (VUR2) . VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults.
Function:
Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to different regions during neuronal development.
Subunit:
Interacts with SLIT2.
Subcellular Location:
Membrane; Single-pass type I membrane protein.
DISEASE:
Defects in ROBO2 are the cause of vesicoureteral reflux type 2 (VUR2) [MIM:610878]. VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults.
Note=A chromosomal aberration involving ROBO2 is a cause of multiple congenital abnormalities, including severe bilateral VUR with ureterovesical junction defects. Translocation t(Y;3)(p11;p12) with PCDH11Y. This translocation disrupts ROBO2 and produces dominant-negative ROBO2 proteins that abrogate SLIT-ROBO signaling in vitro.
Similarity:
Belongs to the immunoglobulin superfamily. ROBO family.
Contains 3 fibronectin type-III domains.
Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
Database links:
UniProtKB/Swiss-Prot: Q9HCK4.2
Entrez Gene: 6092 Human
Entrez Gene: 268902 Mouse
Omim: 602431 Human
SwissProt: Q9HCK4 Human
SwissProt: Q7TPD3 Mouse
Unigene: 13305 Human
Unigene: 171736 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
|
|
