ROBO2: Roundabout Guidance Receptor 2
Key regulator of axon guidance, cell migration, and organogenesis; implicated in congenital anomalies and cancer
Gene Information Card
| Symbol | ROBO2 |
|---|---|
| Full Name | roundabout guidance receptor 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p12.3 |
| NCBI Gene ID | 6092 ncbi.nlm.nih.gov/gene/6092 |
| Ensembl ID | ENSG00000185008 |
| UniProt ID | Q9HCK4 |
| OMIM ID | 602431 |
| HGNC ID | 10249 |
| Aliases | KIAA1568, ROBO2A, SLIT2 receptor |
Description
ROBO2 encodes a transmembrane receptor for SLIT ligands, functioning in axon guidance, cell migration, and organ development. It is involved in the formation of neuronal circuits, kidney ureteric bud branching, and limb patterning. Mutations are linked to congenital anomalies of the kidney and urinary tract (CAKUT), including vesicoureteral reflux, and have been implicated in prostate cancer and other malignancies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Vesicoureteral reflux (VUR) | Loss-of-function mutations in ROBO2 disrupt SLIT2 signaling, impairing ureteric bud insertion and leading to reflux. | PMID: 17236139; ClinVar |
| Congenital anomalies of the kidney and urinary tract (CAKUT) | ROBO2 variants cause defective ureteric bud branching and nephron formation. | PMID: 17236139; OMIM #602431 |
| Prostate cancer | ROBO2 promoter hypermethylation and reduced expression contribute to tumor progression and metastasis. | PMID: 22952446; COSMIC |
| Breast cancer | ROBO2 downregulation is associated with poor prognosis and invasive phenotype. | PMID: 25944712; COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 5.1 | Low |
| Prostate | 4.8 | Low |
| Breast | 3.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Embryonic kidney cell line |
| SH-SY5Y | 7.8 | Neuroblastoma cell line |
| PC-3 | 4.5 | Prostate cancer cell line |
| MCF-7 | 3.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226G>A (p.Gly76Arg) | Missense | Rare | Loss of SLIT2 binding; associated with VUR |
| c.1057C>T (p.Arg353Trp) | Missense | Rare | Impaired receptor dimerization; CAKUT |
| c.1342delC (p.Leu448Trpfs*12) | Frameshift | Rare | Premature truncation; loss of function |
| Promoter hypermethylation | Epigenetic | Frequent in prostate cancer | Reduced ROBO2 expression |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations that disrupt SLIT2 binding, receptor dimerization, or lead to truncated protein; associated with VUR and CAKUT.
Gain of Function (GOF)
Not reported in ROBO2.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg353Trp) may interfere with wild-type ROBO2 function in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
Pathways
• SLIT-ROBO signaling pathway (Reactome: R-HSA-376176)
• Axon guidance (KEGG: hsa04360)
• Netrin-1 signaling (Reactome: R-HSA-373752)
Protein Summary
ROBO2 is a 1,378-amino-acid transmembrane receptor with five immunoglobulin-like domains and three fibronectin type III repeats in the extracellular region, and a conserved cytoplasmic domain that interacts with SLIT ligands. It mediates repulsive axon guidance, cell migration, and organ morphogenesis. Alternative splicing generates isoforms with distinct signaling properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ROBO2 Knockout HEK293 Cell Line | EDJ-KQ1940 | Human | 6092 | Details Get a Quote |
| ROBO2 Knockout HeLa Cell Line | EDJ-KQ21874 | Human | 6092 | Details Get a Quote |
| ROBO2 Knockout A-549 Cell Line | EDJ-KQ62827 | Human | 6092 | Details Get a Quote |
| ROBO2 Knockout HCT 116 Cell Line | EDJ-KQ71293 | Human | 6092 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
