ROBO3

roundabout guidance receptor 3

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. [provided by RefSeq, May 2019]

Known Variants265 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs185584218	11:124,735,354	G/C	—	benign
rs543770866	11:124,735,414	G/T	—	uncertain significance
rs121918275	11:124,735,487	T/C	missense variant	pathogenic
rs773373034	11:124,735,492	A/C	—	uncertain significance
rs1317358882	11:124,735,507	A/C	—	uncertain significance
rs774646580	11:124,735,516	T/C	—	uncertain significance
rs189616702	11:124,735,519	G/A	—	likely benign
rs368813617	11:124,735,549	T/C	—	uncertain significance
rs2497263339	11:124,735,564	T/C	—	likely benign
rs1435251604	11:124,735,633	G/A	—	uncertain significance
rs145440217	11:124,735,645	C/T	—	likely benign
rs1186530206	11:124,738,706	G/A	—	uncertain significance
rs1418018913	11:124,738,713	C/T	—	uncertain significance
rs121918276	11:124,738,733	A/C	missense variant	pathogenic
rs375182141	11:124,738,762	C/T	—	likely benign
rs1946240450	11:124,738,808	C/T	—	likely pathogenic
rs1946240617	11:124,738,821	T/C	—	likely pathogenic
rs1946241537	11:124,738,872	G/C	—	likely pathogenic
rs187438687	11:124,738,891	G/A	—	benign
rs1946243211	11:124,738,953	G/T	—	likely pathogenic
rs2135324853	11:124,738,986	G/A	—	uncertain significance
rs2135324872	11:124,739,003	A/C	—	uncertain significance
rs766578334	11:124,739,005	C/T	—	uncertain significance
rs11219820	11:124,739,332	A/C	—	benign
rs759655848	11:124,739,340	G/C	—	likely benign
rs1946250582	11:124,739,378	A/G	—	uncertain significance
rs888086094	11:124,739,423	C/A	—	uncertain significance
rs188191103	11:124,739,425	C/T	—	benign
rs1487929960	11:124,739,426	C/T	—	uncertain significance
rs746652404	11:124,739,429	C/G	—	uncertain significance
rs2135325614	11:124,739,436	A/G	—	uncertain significance
rs192622083	11:124,739,450	G/A	—	uncertain significance
rs745923389	11:124,739,488	G/A	—	uncertain significance
rs373366899	11:124,739,495	A/C	—	conflicting classifications of pathogenicity
rs778092268	11:124,739,833	T/G	—	uncertain significance
rs762113609	11:124,739,907	G/A	—	uncertain significance
rs1467432534	11:124,739,908	T/A	—	uncertain significance
rs765531515	11:124,739,914	C/T	—	uncertain significance
rs1435528315	11:124,739,920	T/C	—	uncertain significance
rs115272137	11:124,739,924	G/C	—	benign
rs121918277	11:124,739,931	C/T	missense variant	pathogenic
rs777436634	11:124,739,942	G/A	—	likely benign
rs747047729	11:124,739,962	T/C	—	uncertain significance
rs4936957	11:124,739,988	T/C	—	benign
rs1946261580	11:124,740,060	G/A	—	pathogenic
rs200451819	11:124,740,063	C/T	—	uncertain significance
rs750349831	11:124,740,064	G/A	—	uncertain significance
rs372701139	11:124,740,087	G/A	—	uncertain significance
rs1591509584	11:124,740,102	C/T	—	likely benign
rs757635838	11:124,740,112	C/T	—	uncertain significance
rs746375480	11:124,740,113	C/T	—	likely benign
rs142090631	11:124,740,144	A/G	—	conflicting classifications of pathogenicity
rs3923890	11:124,740,410	A/C	—	—
rs1487655672	11:124,740,494	C/T	—	likely benign
rs374537906	11:124,740,507	C/A	—	likely benign
rs121918274	11:124,740,546	G/A	missense variant	pathogenic
rs151168595	11:124,740,559	C/T	—	conflicting classifications of pathogenicity
rs547090319	11:124,740,563	C/T	—	likely benign
rs748933110	11:124,740,593	C/T	—	likely benign
rs370980680	11:124,740,618	G/A	—	uncertain significance
rs7925879	11:124,740,691	A/G	intron variant	—
rs886047908	11:124,740,897	C/G	—	uncertain significance
rs1565310351	11:124,740,927	A/C	—	uncertain significance
rs121918270	11:124,740,958	G/A	missense variant	pathogenic
rs770920293	11:124,740,965	C/T	—	likely benign
rs35978862	11:124,740,980	C/T	—	benign
rs1220702223	11:124,741,026	G/A	—	uncertain significance
rs1010020965	11:124,741,027	G/A	—	uncertain significance
rs1286915599	11:124,741,034	G/C	—	likely pathogenic
rs114572753	11:124,742,307	C/T	—	uncertain significance
rs780179474	11:124,742,309	G/A	—	likely benign
rs369032140	11:124,742,312	G/A	—	conflicting classifications of pathogenicity
rs1946289923	11:124,742,352	A/G	—	uncertain significance
rs537387358	11:124,742,353	C/T	—	uncertain significance
rs774489623	11:124,742,355	G/A	—	uncertain significance
rs3862618	11:124,742,365	A/G	—	benign
rs4935898	11:124,742,385	A/G	—	benign
rs748424524	11:124,742,440	T/G	—	uncertain significance
rs4606490	11:124,742,731	C/T	regulatory region variant	benign
rs117828759	11:124,742,777	C/T	—	benign
rs121918273	11:124,742,815	G/T	stop gained	pathogenic
rs771613910	11:124,742,828	A/G	—	conflicting classifications of pathogenicity
rs767693909	11:124,742,882	C/T	—	likely pathogenic
rs1946299628	11:124,742,899	T/C	—	likely pathogenic
rs144055440	11:124,742,934	C/A	—	likely benign
rs528787628	11:124,742,943	C/A	—	likely benign
rs2497281736	11:124,742,956	A/C	—	uncertain significance
rs776300619	11:124,742,958	C/T	—	likely benign
rs769591533	11:124,742,964	C/T	—	uncertain significance
rs1462471172	11:124,742,973	C/T	—	likely benign
rs764370819	11:124,742,978	A/G	—	likely benign
rs1217177667	11:124,742,980	G/A	—	uncertain significance
rs748933979	11:124,743,208	G/C	—	uncertain significance
rs200197609	11:124,743,211	G/A	—	conflicting classifications of pathogenicity
rs183815001	11:124,743,233	G/A	—	uncertain significance
rs762190285	11:124,743,235	G/A	—	likely benign
rs139930558	11:124,743,284	C/T	—	benign
rs199609085	11:124,743,286	G/A	—	uncertain significance
rs369359848	11:124,743,584	C/T	—	uncertain significance
rs372770487	11:124,743,602	G/A	—	uncertain significance

Showing 100 of 265 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.