InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ROBO2

Summary

InnateDB Protein

IDBP-476410.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ROBO2

Protein Name

roundabout, axon guidance receptor, homolog 2 (Drosophila)

Synonyms

SAX3;

Species

Homo sapiens

Ensembl Protein

ENSP00000417335

InnateDB Gene

IDBG-45400 (ROBO2)

Protein Structure

UniProt Annotation

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.

Subcellular Localization

Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.

Disease Associations

Vesicoureteral reflux 2 (VUR2) [MIM:610878]: A disease belonging to the group of congenital anomalies of the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and end-stage renal disease. {ECO:0000269PubMed:17357069}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.

Experimentally validated
Total	22 [view]
Protein-Protein	21 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	1 [view]
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0008046	axon guidance receptor activity
GO:0042802	identical protein binding
GO:0046982	protein heterodimerization activity

Biological Process

GO:0001656	metanephros development
GO:0001657	ureteric bud development
GO:0007156	homophilic cell adhesion
GO:0007411	axon guidance
GO:0007417	central nervous system development
GO:0007420	brain development
GO:0016199	axon midline choice point recognition
GO:0021510	spinal cord development
GO:0021891	olfactory bulb interneuron development
GO:0031290	retinal ganglion cell axon guidance
GO:0032870	cellular response to hormone stimulus
GO:0050772	positive regulation of axonogenesis
GO:0050925	negative regulation of negative chemotaxis
GO:0051964	negative regulation of synapse assembly
GO:0061364	apoptotic process involved in luteolysis

Cellular Component

GO:0009986	cell surface
GO:0016021	integral component of membrane
GO:0030673	axolemma
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR003596 Immunoglobulin V-set, subgroup
IPR003598 Immunoglobulin subtype 2
IPR003599 Immunoglobulin subtype
IPR003961 Fibronectin, type III
IPR007110 Immunoglobulin-like domain
IPR013098 Immunoglobulin I-set
IPR013106 Immunoglobulin V-set domain
IPR013151 Immunoglobulin

PFAM

PF00041
PF01108
PF07679
PF07686
PF00047

PRINTS

PIRSF

SMART

SM00406
SM00408
SM00409
SM00060

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

Q9HCK4