ENSG00000185008


Homo sapiens

Features
Gene ID: ENSG00000185008
  
Biological name :ROBO2
  
Synonyms : Q9HCK4 / ROBO2 / roundabout guidance receptor 2
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 3
Strand: 1
Band: p12.3
Gene start: 75906695
Gene end: 77649964
  
Corresponding Affymetrix probe sets: 226709_at (Human Genome U133 Plus 2.0 Array)   226766_at (Human Genome U133 Plus 2.0 Array)   240425_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000473268
Ensembl peptide - ENSP00000418446
Ensembl peptide - ENSP00000480344
Ensembl peptide - ENSP00000327536
Ensembl peptide - ENSP00000417164
Ensembl peptide - ENSP00000417335
Ensembl peptide - ENSP00000417471
Ensembl peptide - ENSP00000418117
Ensembl peptide - ENSP00000418190
Ensembl peptide - ENSP00000418344
NCBI entrez gene - 6092     See in Manteia.
OMIM - 602431
RefSeq - XM_017007006
RefSeq - XM_017006992
RefSeq - XM_017006993
RefSeq - XM_017006994
RefSeq - XM_017006995
RefSeq - XM_017006996
RefSeq - XM_017006997
RefSeq - XM_017006998
RefSeq - XM_017006999
RefSeq - XM_017007000
RefSeq - XM_017007001
RefSeq - XM_017007002
RefSeq - XM_017007003
RefSeq - XM_017007004
RefSeq - XM_017007005
RefSeq - NM_001128929
RefSeq - NM_001290039
RefSeq - NM_001290040
RefSeq - NM_001290065
RefSeq - NM_002942
RefSeq - XM_011533981
RefSeq - XM_011533982
RefSeq - XM_011533983
RefSeq - XM_011533984
RefSeq - XM_011533985
RefSeq - XM_017006986
RefSeq - XM_017006987
RefSeq - XM_017006988
RefSeq - XM_017006989
RefSeq - XM_017006990
RefSeq - XM_017006991
RefSeq Peptide - NP_001276969
RefSeq Peptide - NP_001276994
RefSeq Peptide - NP_002933
RefSeq Peptide - NP_001122401
RefSeq Peptide - NP_001276968
swissprot - H7C4W9
swissprot - A0A087WWM5
swissprot - F8W703
swissprot - Q9HCK4
swissprot - R4GMM8
swissprot - F8WBR3
swissprot - H7C4J7
swissprot - H7C4U9
swissprot - H7C4V8
Ensembl - ENSG00000185008
  
Related genetic diseases (OMIM): 610878 - Vesicoureteral reflux 2, 610878
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ROBO2ENSGALG00000015519Gallus gallus
 Robo2ENSMUSG00000052516Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
ROBO1 / Q9Y6N7 / roundabout guidance receptor 1ENSG0000016985555
ROBO3 / Q96MS0 / roundabout guidance receptor 3ENSG0000015413443
ROBO4 / Q8WZ75 / roundabout guidance receptor 4ENSG0000015413318
CDON / Q4KMG0 / cell adhesion associated, oncogene regulatedENSG0000006430917
BOC / Q9BWV1 / BOC cell adhesion associated, oncogene regulatedENSG0000014485715
NCAM1 / P13591 / neural cell adhesion molecule 1ENSG0000014929413
NCAM2 / O15394 / neural cell adhesion molecule 2ENSG0000015465412


Protein motifs (from Interpro)
Interpro ID Name
 IPR003598  Immunoglobulin subtype 2
 IPR003599  Immunoglobulin subtype
 IPR003961  Fibronectin type III
 IPR007110  Immunoglobulin-like domain
 IPR013098  Immunoglobulin I-set
 IPR013106  Immunoglobulin V-set domain
 IPR013783  Immunoglobulin-like fold
 IPR032985  Roundabout homologue 2
 IPR036116  Fibronectin type III superfamily
 IPR036179  Immunoglobulin-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001656 metanephros development ISS
 biological_processGO:0001657 ureteric bud development IMP
 biological_processGO:0001822 kidney development IEA
 biological_processGO:0006935 chemotaxis IEA
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IDA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development IEA
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0007417 central nervous system development NAS
 biological_processGO:0007420 brain development IEP
 biological_processGO:0016199 axon midline choice point recognition ISS
 biological_processGO:0021510 spinal cord development IEA
 biological_processGO:0021891 olfactory bulb interneuron development ISS
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0031290 retinal ganglion cell axon guidance ISS
 biological_processGO:0032870 cellular response to hormone stimulus IEP
 biological_processGO:0035385 Roundabout signaling pathway IEA
 biological_processGO:0050772 positive regulation of axonogenesis IDA
 biological_processGO:0050925 negative regulation of negative chemotaxis IDA
 biological_processGO:0051964 negative regulation of synapse assembly ISS
 biological_processGO:0061364 apoptotic process involved in luteolysis IEP
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0009986 cell surface IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0030673 axolemma IEA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0008046 axon guidance receptor activity NAS
 molecular_functionGO:0042802 identical protein binding IDA


Pathways (from Reactome)
Pathway description
Signaling by ROBO receptors
Regulation of commissural axon pathfinding by SLIT and ROBO
Regulation of cortical dendrite branching
Regulation of expression of SLITs and ROBOs
ROBO receptors bind AKAP5


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0000076 Vesicoureteral reflux "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators]
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 HP:0000089 Renal hypoplasia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000071051 NCK2 / O43639 / NCK adaptor protein 2  / complex / reaction
 ENSG00000114302 P13861 / PRKAR2A / protein kinase cAMP-dependent type II regulatory subunit alpha  / reaction / complex
 ENSG00000072062 P17612 / PRKACA / protein kinase cAMP-activated catalytic subunit alpha  / reaction / complex
 ENSG00000154229 PRKCA / P17252 / protein kinase C alpha  / reaction / complex
 ENSG00000145147 SLIT2 / O94813 / slit guidance ligand 2  / reaction / complex
 ENSG00000187122 SLIT1 / O75093 / slit guidance ligand 1  / reaction / complex
 ENSG00000179841 AKAP5 / P24588 / A-kinase anchoring protein 5  / complex / reaction
 ENSG00000184347 SLIT3 / O75094 / slit guidance ligand 3  / reaction / complex
 ENSG00000107758 P16298 / PPP3CB / protein phosphatase 3 catalytic subunit beta  / complex / reaction
 ENSG00000142875 P22694 / PRKACB / protein kinase cAMP-activated catalytic subunit beta  / reaction / complex
 ENSG00000165059 P22612 / PRKACG / protein kinase cAMP-activated catalytic subunit gamma  / reaction / complex
 ENSG00000154134 ROBO3 / Q96MS0 / roundabout guidance receptor 3  / complex






 

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