ROBO2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ROBO2 |
| Official Name | roundabout guidance receptor 2 [Source:HGNC Symbol;Acc:HGNC:10250] |
| Ensembl ID | ENSG00000185008 |
| Bio databases IDs | |
| Aliases | roundabout guidance receptor 2 |
| Synonyms | 2600013A04Rik, 9430089E08Rik, BB097918, D230004I22Rik, mKIAA1568, roundabout guidance receptor 2, SAX3 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ROBO2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Immunoglobulin V-Type
- immunoglobulin domain
- axon guidance receptor
- ectodomain
- Immunoglobulin I-set domain
- protein binding
- Fibronectin type 3 domain
- identical protein binding
- cytoplasmic domain
- FN3
- transmembrane domain
- Immunoglobulin like
- cytosolic tail domain
- transmembrane receptor
- Immunoglobulin V-set domain
Pathways
Biological processes and signaling networks where the ROBO2 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- schizophrenia
- metabolic syndrome X
- Parkinson disease
- restless legs syndrome
- major depression
- depressive disorder
- COVID-19
- non-insulin-dependent diabetes mellitus
- insomnia
- IgA nephropathy
role in cell
- growth
- migration
- proliferation
- activation in
- formation
- guidance
- adhesion
- branching
- maturation
- crossover
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- glutaminergic synapse
- cell surface
- cellular membrane
- Nucleus
- synaptic membrane
- synaptic vesicles
- axonal membrane
- axons
- sensory axons
- callosal axon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ROBO2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- apoptotic process involved in luteolysis
- retinal ganglion cell axon guidance
- aortic valve morphogenesis
- endocardial cushion formation
- pulmonary valve morphogenesis
- axon guidance
- brain development
- homophilic cell adhesion
- positive regulation of Notch signaling pathway
- ventricular septum morphogenesis
- outflow tract septum morphogenesis
- chemotaxis
- heart induction
- positive regulation of axonogenesis
- olfactory bulb interneuron development
- central nervous system development
- metanephros development
- ureteric bud development
- aorta development
- negative regulation of negative chemotaxis
- axon midline choice point recognition
- cellular response to hormone stimulus
- negative regulation of synapse assembly
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- axolemma
- plasma membrane
- cell surface
Molecular Function
What the gene product does at the molecular level
- identical protein binding
- protein binding
- axon guidance receptor activity