Version 5.4
| Homo sapiens Gene: ROBO3 | |||||||||||||||||||||||
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| Summary | |||||||||||||||||||||||
| InnateDB Gene | IDBG-75287.6 | ||||||||||||||||||||||
| Last Modified | 2014-10-13 [Report errors or provide feedback] | ||||||||||||||||||||||
| Gene Symbol | ROBO3 | ||||||||||||||||||||||
| Gene Name | roundabout, axon guidance receptor, homolog 3 (Drosophila) | ||||||||||||||||||||||
| Synonyms | |||||||||||||||||||||||
| Species | Homo sapiens | ||||||||||||||||||||||
| Ensembl Gene | ENSG00000154134 | ||||||||||||||||||||||
| Encoded Proteins |
roundabout, axon guidance receptor, homolog 3 (Drosophila)
roundabout, axon guidance receptor, homolog 3 (Drosophila)
roundabout, axon guidance receptor, homolog 3 (Drosophila)
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| Protein Structure | |||||||||||||||||||||||
| Useful resources | Stemformatics EHFPI ImmGen | ||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||
| Summary |
This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript variants have been described but have not been experimentally validated. [provided by RefSeq, Dec 2009] |
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| Gene Information | |||||||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||||||
| Genomic Location | Chromosome 11:124865386-124881470 | ||||||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||||||
| Band | q24.2 | ||||||||||||||||||||||
| Transcripts | |||||||||||||||||||||||
| Interactions | |||||||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
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| Gene Ontology | |||||||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| Orthologs | |||||||||||||||||||||||
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Species
Mus musculus
Bos taurus
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Gene ID
Gene Order
Not yet available
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| Pathways | |||||||||||||||||||||||
| NETPATH | |||||||||||||||||||||||
| REACTOME | |||||||||||||||||||||||
| KEGG |
Axon guidance pathway
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| INOH | |||||||||||||||||||||||
| PID NCI | |||||||||||||||||||||||
| Cross-References | |||||||||||||||||||||||
| SwissProt | |||||||||||||||||||||||
| TrEMBL | |||||||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||||||
| Entrez Gene | |||||||||||||||||||||||
| UniGene | Hs.435621 | ||||||||||||||||||||||
| RefSeq | NM_022370 | ||||||||||||||||||||||
| HUGO | |||||||||||||||||||||||
| OMIM | |||||||||||||||||||||||
| CCDS | CCDS44755 | ||||||||||||||||||||||
| HPRD | 10554 | ||||||||||||||||||||||
| IMGT | |||||||||||||||||||||||
| EMBL | |||||||||||||||||||||||
| GenPept | |||||||||||||||||||||||
| RNA Seq Atlas | |||||||||||||||||||||||