Sifarobocept (ROBO2) Antibody

This gene belongs to the ROBO family, part of the immunoglobulin superfamily proteins that are highly conserved from fly to human. The encoded protein is a receptor for SLIT2, molecules known to function in axon guidance and cell migration. Defects in this gene are the cause of vesicoureteral reflux type 2. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]

ROBO2: 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. 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. 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. Belongs to the immunoglobulin superfamily. ROBO family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Cell adhesion; Motility/polarity/chemotaxis; Cell development/differentiation

Chromosomal Location of Human Ortholog: 3p12.3

Cellular Component: cell surface; integral to membrane; axolemma

Molecular Function: identical protein binding; protein binding; axon guidance receptor activity

Biological Process: axon guidance; central nervous system development; olfactory bulb interneuron development; negative regulation of synaptogenesis; axon midline choice point recognition; cellular response to hormone stimulus; negative regulation of negative chemotaxis; ureteric bud development; positive regulation of axonogenesis; brain development; homophilic cell adhesion; metanephros development; retinal ganglion cell axon guidance

Disease: Vesicoureteral Reflux 2