Property Summary

NCBI Gene PubMed Count 39
Grant Count 77
R01 Count 56
Funding $11,643,532.85
PubMed Score 68.80
PubTator Score 33.22

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
interstitial lung disease 1.900 0.023
posterior fossa group A ependymoma -2.300 0.000
oligodendroglioma -1.300 0.004
osteosarcoma 1.686 0.029
glioblastoma -2.100 0.003
atypical teratoid / rhabdoid tumor -2.200 0.000
medulloblastoma, large-cell -2.100 0.011
non-small cell lung cancer -1.554 0.000
lung adenocarcinoma -1.900 0.000
pediatric high grade glioma -1.400 0.013
group 4 medulloblastoma -3.500 0.000
pilocytic astrocytoma -3.400 0.000
lung carcinoma -2.300 0.000
pituitary cancer -1.500 0.000
head and neck cancer -2.500 0.010
facioscapulohumeral dystrophy 1.900 0.049

Synonym

Accession Q9HCK4 O43608 Q19AB4 Q19AB5
Symbols SAX3

Gene

PDB

1UEM   1UJT   2EDJ  

Gene RIF (23)

PMID Text
26608094 ROBO2 somatic mutation is associated with myelodysplastic syndrome progression. Overexpression of ROBO2 produces anti-proliferative and pro-apoptotic effects in leukemia cells. This effect was lost in ROBO mutants and ROBO-SLIT2 signaling is impaired.
26542734 Overexpression of ROBO2 induces its tumor suppressive effects in Breast cancer
26026792 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
25226531 Common variation near ROBO2 is associated with expressive vocabulary in infancy.
24272677 Down-regulation of ROBO2 expression is associated with prostate cancers.
24247621 Frameshift mutations of ROBO1 and ROBO2 genes and alteration of ROBO2 expression in gastric and colorectal cancers suggest that both genes might play roles in the pathogenesis of both cancers.
23982283 The finding that a polymorphism associated with the ROBO2 gene, which is involved in neurodevelopment, confers risk for the common emotionally reactive, impulsive aspects of conduct disorder, independent of concurrent risk for psychopathy.
23536131 Results not completely rule out that some ROBO2 variants may be the sole cause of vesicoureteric reflux, but it is clear from the overall frequency that most of them cannot be.
22719878 data suggests the importance of abrogation of SLIT2-ROBO1 and SLIT2-ROBO2 interactions in the initiation and progression of CACX and also for early diagnosis and prognosis of the disease
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
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AA Sequence

MSLLMFTQLLLCGFLYVRVDGSRLRQEDFPPRIVEHPSDVIVSKGEPTTLNCKAEGRPTPTIEWYKDGER      1 - 70
VETDKDDPRSHRMLLPSGSLFFLRIVHGRRSKPDEGSYVCVARNYLGEAVSRNASLEVALLRDDFRQNPT     71 - 140
DVVVAAGEPAILECQPPRGHPEPTIYWKKDKVRIDDKEERISIRGGKLMISNTRKSDAGMYTCVGTNMVG    141 - 210
ERDSDPAELTVFERPTFLRRPINQVVLEEEAVEFRCQVQGDPQPTVRWKKDDADLPRGRYDIKDDYTLRI    211 - 280
KKTMSTDEGTYMCIAENRVGKMEASATLTVRAPPQFVVRPRDQIVAQGRTVTFPCETKGNPQPAVFWQKE    281 - 350
GSQNLLFPNQPQQPNSRCSVSPTGDLTITNIQRSDAGYYICQALTVAGSILAKAQLEVTDVLTDRPPPII    351 - 420
LQGPANQTLAVDGTALLKCKATGDPLPVISWLKEGFTFPGRDPRATIQEQGTLQIKNLRISDTGTYTCVA    421 - 490
TSSSGETSWSAVLDVTESGATISKNYDLSDLPGPPSKPQVTDVTKNSVTLSWQPGTPGTLPASAYIIEAF    491 - 560
SQSVSNSWQTVANHVKTTLYTVRGLRPNTIYLFMVRAINPQGLSDPSPMSDPVRTQDISPPAQGVDHRQV    561 - 630
QKELGDVLVRLHNPVVLTPTTVQVTWTVDRQPQFIQGYRVMYRQTSGLQATSSWQNLDAKVPTERSAVLV    631 - 700
NLKKGVTYEIKVRPYFNEFQGMDSESKTVRTTEEAPSAPPQSVTVLTVGSYNSTSISVSWDPPPPDHQNG    701 - 770
IIQEYKIWCLGNETRFHINKTVDAAIRSVIIGGLFPGIQYRVEVAASTSAGVGVKSEPQPIIIGRRNEVV    771 - 840
ITENNNSITEQITDVVKQPAFIAGIGGACWVILMGFSIWLYWRRKKRKGLSNYAVTFQRGDGGLMSNGSR    841 - 910
PGLLNAGDPSYPWLADSWPATSLPVNNSNSGPNEIGNFGRGDVLPPVPGQGDKTATMLSDGAIYSSIDFT    911 - 980
TKTSYNSSSQITQATPYATTQILHSNSIHELAVDLPDPQWKSSIQQKTDLMGFGYSLPDQNKGNNGGKGG    981 - 1050
KKKKNKNSSKPQKNNGSTWANVPLPPPPVQPLPGTELEHYAVEQQENGYDSDSWCPPLPVQTYLHQGLED   1051 - 1120
ELEEDDDRVPTPPVRGVASSPAISFGQQSTATLTPSPREEMQPMLQAHLDELTRAYQFDIAKQTWHIQSN   1121 - 1190
NQPPQPPVPPLGYVSGALISDLETDVADDDADDEEEALEIPRPLRALDQTPGSSMDNLDSSVTGKAFTSS   1191 - 1260
QRPRPTSPFSTDSNTSAALSQSQRPRPTKKHKGGRMDQQPALPHRREGMTDEEALVPYSKPSFPSPGGHS   1261 - 1330
SSGTASSKGSTGPRKTEVLRAGHQRNASDLLDIGYMGSNSQGQFTGEL                         1331 - 1378
//

Text Mined References (41)

PMID Year Title
26608094 2015 Whole-exome and targeted sequencing identify ROBO1 and ROBO2 mutations as progression-related drivers in myelodysplastic syndromes.
26542734 2015 Function of Slit/Robo signaling in breast cancer.
26026792 2015 Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.
25226531 2014 Common variation near ROBO2 is associated with expressive vocabulary in infancy.
24272677 2014 Down-regulation of ROBO2 expression in prostate cancers.
24247621 2013 Frameshift mutations of axon guidance genes ROBO1 and ROBO2 in gastric and colorectal cancers with microsatellite instability.
24024966 2013 Genome-wide association study of chronic periodontitis in a general German population.
23982283 2013 Replication of a ROBO2 polymorphism associated with conduct problems but not psychopathic tendencies in children.
23568457 2013 Genetic variants associated with disordered eating.
23536131 2013 Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux.
More...