ROBO2 (roundabout guidance receptor 2)

2014-08-01  

Identity

HGNC
ROBO2
LOCATION
3p12.3
LOCUSID
6092
ALIAS
SAX3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6092
MIM: 602431
HGNC: 10250
Ensembl: ENSG00000185008

Variants:

dbSNP: 6092
ClinVar: 6092
TCGA: ENSG00000185008
COSMIC: ROBO2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000185008ENST00000332191F8W703
ENSG00000185008ENST00000461745Q9HCK4
ENSG00000185008ENST00000471893H7C4U9
ENSG00000185008ENST00000473767F8WBR3
ENSG00000185008ENST00000475334H7C4W9
ENSG00000185008ENST00000487694Q9HCK4
ENSG00000185008ENST00000490534H7C4J7
ENSG00000185008ENST00000490991H7C4V8
ENSG00000185008ENST00000602589R4GMM8
ENSG00000185008ENST00000614793A0A087WWM5

Expression (GTEx)

0
1
2
3
4
5
6
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
190231252009A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype.104
173570692007Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux.78
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
182709762008Genetic analyses of roundabout (ROBO) axon guidance receptors in autism.34
182350932008ROBO2 gene variants are associated with familial vesicoureteral reflux.24
182350932008ROBO2 gene variants are associated with familial vesicoureteral reflux.24
199597182010Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux.20
252265312014Common variation near ROBO2 is associated with expressive vocabulary in infancy.20

Citation

Dessen P

ROBO2 (roundabout guidance receptor 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54589/robo2