ROBO3 (roundabout guidance receptor 3)

2011-03-01  

Identity

HGNC
LOCATION
11q24.2
LOCUSID
ALIAS
HGPPS,HGPPS1,HGPS,RBIG1,RIG1
FUSION GENES

Other Information

Locus ID:

NCBI: 64221
MIM: 608630
HGNC: 13433
Ensembl: ENSG00000154134

Variants:

dbSNP: 64221
ClinVar: 64221
TCGA: ENSG00000154134
COSMIC: ROBO3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000154134ENST00000397801Q96MS0
ENSG00000154134ENST00000538940F5GWJ5
ENSG00000154134ENST00000543966F5H0K7

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Axon guidanceKEGGko04360
Axon guidanceKEGGhsa04360
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Signaling by Robo receptorREACTOMER-HSA-376176
Regulation of Commissural axon pathfinding by Slit and RoboREACTOMER-HSA-428542

References

Pubmed IDYearTitleCitations
151054592004Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.93
151054592004Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis.93
211874382011RIG-I/MDA5/MAVS are required to signal a protective IFN response in rotavirus-infected intestinal epithelium.78
182709762008Genetic analyses of roundabout (ROBO) axon guidance receptors in autism.34
182709762008Genetic analyses of roundabout (ROBO) axon guidance receptors in autism.34
158243462005Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3.29
162260352005Evidence for the existence of two Robo3 isoforms with divergent biochemical properties.26
165250292006Horizontal gaze palsy with progressive scoliosis can result from compound heterozygous mutations in ROBO3.18
260709642015ROBO3 promotes growth and metastasis of pancreatic carcinoma.13
218501722011Horizontal gaze palsy with progressive scoliosis: three novel ROBO3 mutations and descriptions of the phenotypes of four patients.9

Citation

Dessen P

ROBO3 (roundabout guidance receptor 3)

Atlas Genet Cytogenet Oncol Haematol. 2011-03-01

Online version: http://atlasgeneticsoncology.org/gene/52146/robo3