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ROBO2 Gene

protein-coding   GIFtS: 64
GCID: GC03P075955

Roundabout, Axon Guidance Receptor, Homolog 2 (Drosophila)

(Previous names: roundabout (axon guidance receptor, Drosophila) homolog...)
  See ROBO2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Roundabout, Axon Guidance Receptor, Homolog 2 (Drosophila)1 2
SAX32 5
KIAA15683 5
Roundabout (Axon Guidance Receptor, Drosophila) Homolog 21
Roundabout Homolog 22

External Ids:    HGNC: 102501   Entrez Gene: 60922   Ensembl: ENSG000001850087   OMIM: 6024315   UniProtKB: Q9HCK43   

Export aliases for ROBO2 gene to outside databases

Previous GC identifers: GC03P075389 GC03P077181 GC03P076895 GC03P077010 GC03P077009 GC03P077172 GC03P077608 GC03P076069


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ROBO2 Gene:
The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins
that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog
2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with
vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the
kidney. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Feb 2014)

GeneCards Summary for ROBO2 Gene:
ROBO2 (roundabout, axon guidance receptor, homolog 2 (Drosophila)) is a protein-coding gene. Diseases associated with ROBO2 include vesicoureteral reflux 2, and vesicoureteral reflux. GO annotations related to this gene include identical protein binding and axon guidance receptor activity. An important paralog of this gene is CHL1.

UniProtKB/Swiss-Prot: ROBO2_HUMAN, Q9HCK4
Function: Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular
migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to
different regions during neuronal development

Gene Wiki entry for ROBO2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ROBO2 gene promoter:
         STAT4   STAT1beta   Lmo2   Tal-1beta   STAT1alpha   E47   AREB6   STAT2   STAT3   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidROBO2 promoter sequence
   Search Chromatin IP Primers for ROBO2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ROBO2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p12.3   Ensembl cytogenetic band:  3p12.3   HGNC cytogenetic band: 3p12.3

ROBO2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ROBO2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P075955:  view genomic region     (about GC identifiers)

Start:
75,955,845 bp from pter      End:
77,699,115 bp from pter
Size:
1,743,271 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ROBO2_HUMAN, Q9HCK4 (See protein sequence)
Recommended Name: Roundabout homolog 2 precursor  
Size: 1378 amino acids; 151200 Da
Subunit: Interacts with SLIT2
Sequence caution: Sequence=AAC39576.1; Type=Frameshift; Positions=601; Sequence=BAB13394.1; Type=Erroneous
initiation;
3 PDB 3D structures from and Proteopedia for ROBO2:
1UEM (3D)        1UJT (3D)        2EDJ (3D)    
Secondary accessions: O43608 Q19AB4 Q19AB5
Alternative splicing: 3 isoforms:  Q9HCK4-1   Q9HCK4-2   Q9HCK4-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ROBO2: NX_Q9HCK4

Explore proteomics data for ROBO2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn123, Asn426, Asn752, Asn782, Asn789, Asn845
  • Modification sites at PhosphoSitePlus

  • See ROBO2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001122401.1  NP_001276968.1  NP_001276969.1  NP_001276994.1  NP_002933.1  

    ENSEMBL proteins: 
     ENSP00000417335   ENSP00000473268   ENSP00000417164   ENSP00000327536   ENSP00000418117  
     ENSP00000418344   ENSP00000418190   ENSP00000418446   ENSP00000417471  
    Reactome Protein details: Q9HCK4

    ROBO2 Human Recombinant Protein Products:

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    antibodies-online proteins for ROBO2 (3 products) 

     
    antibodies-online peptides for ROBO2

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    antibodies-online antibodies for ROBO2 (32 products) 

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing

    5 InterPro protein domains:
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold

    Graphical View of Domain Structure for InterPro Entry Q9HCK4

    ProtoNet protein and cluster: Q9HCK4

    1 Blocks protein domain: IPB003598 Immunoglobulin C-2 type

    UniProtKB/Swiss-Prot: ROBO2_HUMAN, Q9HCK4
    Similarity: Belongs to the immunoglobulin superfamily. ROBO family
    Similarity: Contains 3 fibronectin type-III domains
    Similarity: Contains 5 Ig-like C2-type (immunoglobulin-like) domains


    Find genes that share domains with ROBO2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ROBO2_HUMAN, Q9HCK4
    Function: Receptor for SLIT2, and probably SLIT1, which are thought to act as molecular guidance cue in cellular
    migration, including axonal navigation at the ventral midline of the neural tube and projection of axons to
    different regions during neuronal development

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12504588
    GO:0008046axon guidance receptor activity NAS9458045
    GO:0042802identical protein binding IDA12504588
    GO:0046982protein heterodimerization activity IEA--
         
    Find genes that share ontologies with ROBO2           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ROBO2:
     Increased G1 DNA content 

         12 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Robo2):
     behavior/neurological  cardiovascular system  cellular  digestive/alimentary  homeostasis/metabolism 
     mortality/aging  muscle  nervous system  normal  renal/urinary system 
     reproductive system  respiratory system 

    Find genes that share phenotypes with ROBO2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ROBO2: Robo2tm1Mrt Robo2tm1.1Rilm

       genOway: Develop your customized and physiologically relevant rodent model for ROBO2

    miRNA
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    miRTarBase miRNAs that target ROBO2:
    hsa-mir-342-5p (MIRT038206), hsa-mir-145-5p (MIRT005809)

    Block miRNA regulation of human, mouse, rat ROBO2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ROBO2 (see all 113):
    hsa-miR-579 hsa-miR-188-5p hsa-miR-4325 hsa-miR-200b hsa-miR-192* hsa-miR-2113 hsa-miR-130b hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidROBO2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ROBO2

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ROBO2_HUMAN, Q9HCK4: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0009986cell surface IDA12504588
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0030673axolemma ISS--
    GO:0070062extracellular vesicular exosome IDA19056867

    Find genes that share ontologies with ROBO2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ROBO2 About    
    See pathways by source

          Powered
    by
         
    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    2Signaling by Robo receptor
    Regulation of Commissural axon pathfinding by Slit and Robo0.00
    Signaling by Robo receptor
    3Development Slit-Robo signaling
    Development Slit-Robo signaling0.44
    4Axon guidance
    Axon guidance


    Find genes that share SuperPaths with ROBO2           About GenesLikeMe

    Pathways by source                                   See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ROBO2
        Development Slit-Robo signaling


    1 Reactome Pathway for ROBO2
        Regulation of Commissural axon pathfinding by Slit and Robo


    1 Kegg Pathway  (Kegg details for ROBO2):
        Axon guidance

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ROBO2
    Interactions:

        Search GeneGlobe Interaction Network for ROBO2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ROBO2 (Q9HCK42, 3 ENSP000004171644) via UniProtKB, MINT, STRING, and/or I2D (see all 59)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000236693P044402, 3, ENSP000004141964MINT-8258142 I2D: score=2 STRING: ENSP00000414196
    ENSG00000237710P044402, 3, ENSP000003892884MINT-8258142 I2D: score=2 STRING: ENSP00000389288
    ENSG00000215048P044402, 3MINT-8258142 I2D: score=2 
    ENSG00000226826P044402, 3MINT-8258142 I2D: score=2 
    ENSG00000230763P044402, 3MINT-8258142 I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001656metanephros development ISS--
    GO:0001657ureteric bud development IMP17357069
    GO:0007155cell adhesion ----
    GO:0007156homophilic cell adhesion IDA12504588
    GO:0007411axon guidance TAS--

    Find genes that share ontologies with ROBO2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ROBO2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ROBO2 gene (5 alternative transcripts): 
    NM_001128929.3  NM_001290039.1  NM_001290040.1  NM_001290065.1  NM_002942.4  

    Unigene Cluster for ROBO2:

    Roundabout, axon guidance receptor, homolog 2 (Drosophila)
    Hs.13305  [show with all ESTs]
    Unigene Representative Sequence: BX648828
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487694(uc021xat.1) ENST00000602589 ENST00000475034 ENST00000461745(uc003dpy.4 uc003dpz.3 uc011bgj.2 uc011bgk.2)
    ENST00000332191 ENST00000473767 ENST00000490991(uc003dqa.3) ENST00000471893
    ENST00000469233 ENST00000475334 ENST00000470802 ENST00000490534
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ROBO2 (see all 113):
    hsa-miR-579 hsa-miR-188-5p hsa-miR-4325 hsa-miR-200b hsa-miR-192* hsa-miR-2113 hsa-miR-130b hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidROBO2 3' UTR sequence
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    Additional mRNA sequence: 

    AB046788.1 AF040991.1 AK074780.1 AK301176.1 BC064374.1 BC144302.1 BC144303.1 BC144306.1 
    BC146772.1 BX648828.1 DQ533873.1 DQ533874.1 

    10 DOTS entries:

    DT.311983  DT.97792083  DT.97822113  DT.101973903  DT.443106  DT.87046561  DT.120909579  DT.40262847 
    DT.75114997  DT.40112525 

    Selected AceView cDNA sequences (see all 90):

    BM472841 BQ086172 BX281483 AA331733 BM313791 AB046788 AW769628 BX109465 
    CK822894 AI079562 BM728552 BI963095 BM512016 BM801621 BX508224 AI435587 
    BQ024097 AI540435 BC064374 BQ022135 AI306130 BF309483 Z41721 CA778290 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ROBO2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTATAAACT
    ROBO2 Expression
    About this image


    ROBO2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
     
     Tooth (Integumentary System)    fully expand to see all 2 entries
             Odontoblasts Dentin
     
     Testis (Reproductive System)
             Testicular Interstitial Cells Testis Interstitium
     
     Neurons
             Fetal Dopaminergic Neurons Substantia Nigra pars Compacta
     
     Brain (Nervous System)
             Fetal Dopaminergic Neurons Substantia Nigra pars Compacta
    ROBO2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ROBO2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.13305
        Custom PCR Arrays for ROBO2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ROBO2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ROBO2 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Robo21 , 5 roundabout homolog 2 (Drosophila)1, 5 88.18(n)1
    95.04(a)1
      16 (42.17 cM)5
    2689021  NM_175549.41  NP_780758.31 
     738923065 
    chicken
    (Gallus gallus)
    Aves ROBO21 roundabout, axon guidance receptor, homolog 2 (Drosophila) 82.81(n)
    93.37(a)
      395291  XM_416674.4  XP_416674.4 
    lizard
    (Anolis carolinensis)
    Reptilia ROBO26
    roundabout, axon guidance receptor, homolog 2 (Dro...
    82(a)
    1 ↔ 1
    GL343230.1(149696-339823)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia robo21 roundabout, axon guidance receptor, homolog 2 (Drosophila) 78.09(n)
    86.75(a)
      100493913  XM_004912080.1  XP_004912137.1 
    zebrafish
    (Danio rerio)
    Actinopterygii robo22 roundabout homolog 2 76.75(n)   60309  AF337035.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta robo1 roundabout 48.23(n)
    41.2(a)
      37603  NM_057551.3  NP_476899.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sax-36
    Protein SAX-3, isoform a (sax-3) mRNA, complete cd...
    32(a)
    1 → many
    X(3451933-3465925) WBGene00004729


    ENSEMBL Gene Tree for ROBO2 (if available)
    TreeFam Gene Tree for ROBO2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ROBO2 gene
    CHL12  NEO12  ROBO12  CNTN52  CNTN42  IGDCC42  NRCAM2  L1CAM2  
    CNTN22  CNTN62  NFASC2  CNTN32  DCC2  PRTG2  IGDCC32  ROBO32  
    CNTN12  
    11 SIMAP similar genes for ROBO2 using alignment to 9 protein entries:     ROBO2_HUMAN (see all proteins):
    ROBO1    ROBO3    PTPRS    PTPRD    DCC    PRTG
    PTPRF    FGFR3    FGFR1    HMCN2    NRCAM

    Find genes that share paralogs with ROBO2           About GenesLikeMe


    2 Pseudogenes.org Pseudogenes for ROBO2
    PGOHUM00000247496 PGOHUM00000232694


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ROBO2 (see all 37313)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0329604
    Vesicoureteral reflux 2 (VUR2)4--see VAR_0329602 I T mis40--------
    VAR_0329614
    Vesicoureteral reflux 2 (VUR2)4--see VAR_0329612 A T mis40--------
    rs1456447141,2
    Cuntested176500368(+) GCTCTC/GTTCTT 1 -- int10--------
    rs1884562541,2
    C--75908547(+) ATAAAA/CCTTAC 1 -- us2k10--------
    rs1810916281,2
    --75908604(+) CTGATA/TGGTAG 1 -- us2k10--------
    rs1118967871,2
    F--75908934(+) TAGTTC/AATGAT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs731232481,2
    C,F--75908942(+) GATTGA/TTATTA 1 -- us2k11Minor allele frequency- T:0.02NA 120
    rs170286001,2
    C,F--75908980(+) CTGAAT/GTGCCT 1 -- us2k13Minor allele frequency- G:0.01NA 142
    rs1480125841,2
    --75909089(+) TTTATC/TAATTA 1 -- us2k10--------
    rs1416684471,2
    --75909279(+) TTAATA/CTAATT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ROBO2 (75955845 - 76205845 bp, first 250kb of ROBO2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ROBO2 (see all 29):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2725539CNV Deletion23290073
    esv2725537CNV Deletion23290073
    esv989139CNV Deletion20482838
    esv2725538CNV Deletion23290073
    esv2725536CNV Deletion23290073
    esv1228509CNV Deletion17803354
    esv2662491CNV Deletion23128226
    esv2725535CNV Deletion23290073
    esv1000557CNV Deletion20482838
    esv2675710CNV Deletion23128226

    Human Gene Mutation Database (HGMD): ROBO2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ROBO2
    DNA2.0 Custom Variant and Variant Library Synthesis for ROBO2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602431   
    OMIM disorders: 610878  
    UniProtKB/Swiss-Prot: ROBO2_HUMAN, Q9HCK4
  • Vesicoureteral reflux 2 (VUR2) [MIM:610878]: A disease belonging to the group of congenital anomalies of
    the kidney and urinary tract. It is characterized by the reflux of urine from the bladder into the ureters and
    sometimes into the kidneys, and is a risk factor for urinary tract infections. Primary disease results from a
    developmental defect of the ureterovesical junction. In combination with intrarenal reflux, the resulting
    inflammatory reaction may result in renal injury or scarring, also called reflux nephropathy. Extensive renal
    scarring impairs renal function and may predispose patients to hypertension, proteinuria, renal insufficiency and
    end-stage renal disease. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=A chromosomal aberration involving ROBO2 is a cause of multiple congenital abnormalities, including
    severe bilateral VUR with ureterovesical junction defects. Translocation t(Y;3)(p11;p12) with PCDH11Y. This
    translocation disrupts ROBO2 and produces dominant-negative ROBO2 proteins that abrogate SLIT-ROBO signaling in
    vitro

  • 3 diseases for ROBO2:    
    About MalaCards
    vesicoureteral reflux 2    vesicoureteral reflux    vesicoureteral reflux 8

    1 inferred disease relationship from the University of Copenhagen DISEASES database for ROBO2:
    Vesicoureteral reflux

    Find genes that share disorders with ROBO2           About GenesLikeMe

    Genetic Association Database (GAD): ROBO2
    Human Genome Epidemiology (HuGE) Navigator: ROBO2 (10 documents)

    Export disorders for ROBO2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ROBO2 gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with ROBO2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors. (PubMed id 9458045)1, 2, 3 Kidd T.... Tear G. (Cell 1998)
    2. Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. (PubMed id 19959718)1, 4 Cordell H.J....Goodship J.A. (J. Am. Soc. Nephrol. 2010)
    3. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (Alcohol. Clin. Exp. Res. 2010)
    4. In search of genes associated with risk for psychopathic tendencies in children: a two-stage genome-wide association study of pooled DNA. (PubMed id 20345837)1, 4 Viding E....Plomin R. (J Child Psychol Psychiatry 2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Mutations in the ROBO2 and SLIT2 genes are rare causes of familial vesico-ureteral reflux. (PubMed id 19350278)1, 4 Zu S....NordenskjAPld A. (Pediatr. Nephrol. 2009)
    7. A genome-wide association study of schizophrenia using brain activation as a quantitative phenotype. (PubMed id 19023125)1, 4 Potkin S.G....Macciardi F. (Schizophr Bull 2009)
    8. Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling. (PubMed id 19240061)1, 4 Trynka G....Wijmenga C. (Gut 2009)
    9. ROBO2 gene variants are associated with familial vesicoureteral reflux. (PubMed id 18235093)1, 4 Bertoli-Avella A.M....Perrotta S. (J. Am. Soc. Nephrol. 2008)
    10. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PubMed id 18464913)1, 4 Melzer D....Ferrucci L. (PLoS Genet. 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6092 HGNC: 10250 AceView: ROBO2 Ensembl:ENSG00000185008 euGenes: HUgn6092
    ECgene: ROBO2 Kegg: 6092 H-InvDB: ROBO2

    (According to HUGE)
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    HUGE: KIAA1568

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ROBO2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ROBO2 gene:
    Search GeneIP for patents involving ROBO2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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