Property Summary

NCBI Gene PubMed Count 21
PubMed Score 85.65
PubTator Score 44.76

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
malignant mesothelioma 1.200 4.7e-06
group 3 medulloblastoma 3.200 1.4e-07
lung cancer 1.800 4.7e-05
breast carcinoma -1.400 2.3e-06
non-inflammatory breast cancer -2.200 2.8e-06
ductal carcinoma in situ -1.100 4.6e-04
invasive ductal carcinoma -1.100 1.8e-03
ovarian cancer -1.900 1.4e-09

Gene RIF (20)

PMID Text
26070964 confirmed that ROBO3 increases with clinical grade and miR-383 expression is inversely correlated to that of ROBO3
25882844 human AKAP79-anchored PKC selectively phosphorylates the Robo3.1 receptor subtype on serine 1330
24969490 We report the case of a 10-month-old girl with cross-fixation and inability to abduct who was genetically proven to have horizontal gaze palsy with progressive scoliosis (recessive ROBO3 mutations).
24936616 Robo3.1A may prevent the Slit responsiveness by recruiting Robo1/2 into a late endosome- and lysosome-dependent degradation pathway.
21850172 Three novel ROBO3 mutations have been identified in consanguineous patients with horizontal gaze palsy and progressive scoliosis.
21592015 The novel ROBO3 mutation in this family may be among the most deleterious
21510772 This patient had clinical and neuroimaging characteristics considered pathognomonic of horizontal gaze palsy and progressive scoliosis and yet did not have ROBO3 mutations
21187438 RIG-I or melanoma differentiation-associated gene (MDA)5 signaling through mitochondrial antiviral signaling protein MAVS is required for activation of interferon (IFN)-beta production by rotavirus-infected intestinal epithelial cells.
20298552 Slit3 inhibits Robo3-induced invasion of synovial fibroblasts in rheumatoid arthritis.
19041479 This is the second reported patient with synergistic convergence and the first associated with a documented pathologic genotype.
18829051 This study found five novel homozygous ROBO3 mutations (four missense mutations and one base deletion) distributed throughout the extracellular domain of the gene in consanguineous families with horizontal gaze palsy and progressive scoliosis.
18270976 Four SNPs of ROBO3 showed associations with autism
18270976 Observational study of gene-disease association. (HuGE Navigator)
17671968 No evidence for association between Gilles de la Tourette Syndrome and either the ROBO3 gene. Thus, this gene is unlikely to be the susceptibility genes contributing to GTS on 11q24.
17671968 Observational study of gene-disease association. (HuGE Navigator)
16525029 Incidence of scoliosis in individuals harbouring heterozygous ROBO3 mutations may be greater than in the general population.
16226035 Here we describe and compare two human Robo3 isoforms, Robo3A and Robo3B, which differ by the insertion of 26 amino acids at the N-terminus, and these forms appear to be evolutionary conserved
15824346 The major clinical characteristics of patients with mutated ROBO3 were horizontal gaze palsy, progressive scoliosis, and brainstem malformations.
15105459 identified mutations in the ROBO3 gene in patients affected with horizontal gaze palsy with progressive scoliosis (HGPPS);ROBO3 is required for hindbrain axon midline crossing
15105459 mutations in the ROBO3 gene, which shares homology with roundabout genes important in axon guidance in developing Drosophila, zebrafish, and mouse.

AA Sequence

MLRYLLKTLLQMNLFADSLAGDISNSSELLLGFNSSLAALNHTLLPPGDPSLNGSRVGPEDAMPRIVEQP      1 - 70
PDLLVSRGEPATLPCRAEGRPRPNIEWYKNGARVATVREDPRAHRLLLPSGALFFPRIVHGRRARPDEGV     71 - 140
YTCVARNYLGAAASRNASLEVAVLRDDFRQSPGNVVVAVGEPAVLECVPPRGHPEPSVSWRKDGARLKEE    141 - 210
EGRITIRGGKLMMSHTLKSDAGMYVCVASNMAGERESAAAEVMVLERPSFLRRPVNQVVLADAPVTFLCE    211 - 280
VKGDPPPRLRWRKEDGELPTGRYEIRSDHSLWIGHVSAEDEGTYTCVAENSVGRAEASGSLSVHVPPQLV    281 - 350
TQPQDQMAAPGESVAFQCETKGNPPPAIFWQKEGSQVLLFPSQSLQPTGRFSVSPRGQLNITAVQRGDAG    351 - 420
YYVCQAVSVAGSILAKALLEIKGASLDGLPPVILQGPANQTLVLGSSVWLPCRVTGNPQPSVRWKKDGQW    421 - 490
LQGDDLQFKTMANGTLYIANVQEMDMGFYSCVAKSSTGEATWSGWLKMREDWGVSPDPPTEPSSPPGAPS    491 - 560
QPVVTEITKNSITLTWKPNPQTGAAVTSYVIEAFSPAAGNTWRTVADGVQLETHTVSGLQPNTIYLFLVR    561 - 630
AVGAWGLSEPSPVSEPVRTQDSSPSRPVEDPWRGQQGLAEVAVRLQEPIVLGPRTLQVSWTVDGPVQLVQ    631 - 700
GFRVSWRVAGPEGGSWTMLDLQSPSQQSTVLRGLPPGTQIQIKVQAQGQEGLGAESLSVTRSIPEEAPSG    701 - 770
PPQGVAVALGGDGNSSITVSWEPPLPSQQNGVITEYQIWCLGNESRFHLNRSAAGWARSAMLRGLVPGLL    771 - 840
YRTLVAAATSAGVGVPSAPVLVQLPSPPDLEPGLEVGAGLAVRLARVLREPAFLAGSGAACGALLLGLCA    841 - 910
ALYWRRKQRKELSHYTASFAYTPAVSFPHSEGLSGASSRPPMGLGPAPYSWLADSWPHPSRSPSAQEPRG    911 - 980
SCCPSNPDPDDRYYNEAGISLYLAQTARGTAAPGEGPVYSTIDPAGEELQTFHGGFPQHPSGDLGPWSQY    981 - 1050
APPEWSQGDSGAKGGKVKLLGKPVQMPSLNWPEALPPPPPSCELSCLEGPEEELEGSSEPEEWCPPMPER   1051 - 1120
SHLTEPSSSGGCLVTPSRRETPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQMPRRVPLGPSSPLSV   1121 - 1190
SQPMLGIREARPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKALPYRR   1191 - 1260
ENSPGDLPPPPLPPPEEEASWALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDEEAWLPYSRPS   1261 - 1330
FLSRGQGTSTCSTAGSNSSRGSSSSRGSRGPGRSRSRSQSRSQSQRPGQKRREEPR                 1331 - 1386
//

Text Mined References (22)

PMID Year Title
26070964 2015 ROBO3 promotes growth and metastasis of pancreatic carcinoma.
25882844 2015 A-kinase Anchoring Protein 79/150 Recruits Protein Kinase C to Phosphorylate Roundabout Receptors.
24969490 2014 Infantile esotropia with cross-fixation, inability to abduct, and underlying horizontal gaze palsy with progressive scoliosis.
24936616 2014 Robo3.1A suppresses slit-mediated repulsion by triggering degradation of Robo2.
21850172 2011 Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.
21592015 2011 Horizontal gaze palsy and progressive scoliosis due to a deleterious mutation in ROBO3.
21510772 2011 Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations.
21187438 2011 RIG-I/MDA5/MAVS are required to signal a protective IFN response in rotavirus-infected intestinal epithelium.
20298552 2010 Slit3 inhibits Robo3-induced invasion of synovial fibroblasts in rheumatoid arthritis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19041479 2008 Bilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu).
18829051 2009 Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations.
18270976 2008 Genetic analyses of roundabout (ROBO) axon guidance receptors in autism.
17671968 2008 Association study between Gilles de la Tourette Syndrome and two genes in the Robo-Slit pathway located in the chromosome 11q24 linked/associated region.
16525029 2006 Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.
16226035 2005 Evidence for the existence of two Robo3 isoforms with divergent biochemical properties.
15824346 2005 Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3.
15105459 2004 Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12177379 2002 Familial horizontal gaze palsy with progressive scoliosis maps to chromosome 11q23-25.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.