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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ROBO3 Gene

protein-coding   GIFtS: 62
GCID: GC11P124735

Roundabout, Axon Guidance Receptor, Homolog 3 (Drosophila)

(Previous names: roundabout (axon guidance receptor, Drosophila) homolog...)
(Previous symbol: HGPPS)
  See 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)
About This Section

Aliases
Roundabout, Axon Guidance Receptor, Homolog 3 (Drosophila)1 2     Horizontal Gaze Palsy With Progressive Scoliosis1
HGPPS1 2 5     Roundabout (Axon Guidance Receptor, Drosophila) Homolog 31
Roundabout-Like Protein 32 3     HGPS2
RBIG12 5     Retinoblastoma Inhibiting Gene 12
RIG12 5     Roundabout Homolog 32

External Ids:    HGNC: 134331   Entrez Gene: 642212   Ensembl: ENSG000001541347   OMIM: 6086305   UniProtKB: Q96MS03   

Export aliases for ROBO3 gene to outside databases

Previous GC identifers: GC11P124284 GC11P124240 GC11P120677


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ROBO3 Gene:
This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance,
and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily.
SLIT proteins 1-3, a family of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions
regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to
neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and
three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved
signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike other ROBO family members, ROBO3 lacks
motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss
of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and
the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal
recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of
the corticospinal and somatosensory axon tracts to cross the midline in the medulla. Alternative transcript
variants have been described but have not been experimentally validated. (provided by RefSeq, Dec 2009)

GeneCards Summary for ROBO3 Gene: 
ROBO3 (roundabout, axon guidance receptor, homolog 3 (Drosophila)) is a protein-coding gene. Diseases associated with ROBO3 include scoliosis, and horizontal gaze palsy with progressive scoliosis, and among its related super-pathways are Development Slit-Robo signaling and Axon guidance. GO annotations related to this gene include protein heterodimerization activity and protein homodimerization activity. An important paralog of this gene is ROBO2.

UniProtKB/Swiss-Prot: ROBO3_HUMAN, Q96MS0
Function: Thought to be involved during neural development in axonal navigation at the ventral midline of the
neural tube. In spinal chord development plays a role in guiding commissural axons probably by preventing
premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 (By similarity). Required for
hindbrain axon midline crossing

Gene Wiki entry for ROBO3 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ROBO3 gene promoter:
         USF1   NRSF form 1   Nkx2-5   LCR-F1   NRSF form 2   CBF-C   CBF-B   CBF-A   USF-1   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ROBO3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ROBO3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ROBO3


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

Entrez Gene cytogenetic band: 11q24.2   Ensembl cytogenetic band:  11q24.2   HGNC cytogenetic band: 11q24

ROBO3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ROBO3 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P124735:  view genomic region     (about GC identifiers)

Start:
124,735,282 bp from pter      End:
124,751,370 bp from pter
Size:
16,089 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ROBO3_HUMAN, Q96MS0 (See protein sequence)
Recommended Name: Roundabout homolog 3 precursor  
Size: 1386 amino acids; 148209 Da
Subunit: Probably interacts with SLIT2 (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein (Potential)
Alternative splicing: 2 isoforms:  Q96MS0-1   Q96MS0-2   

Explore the universe of human proteins at neXtProt for ROBO3: NX_Q96MS0

Explore proteomics data for ROBO3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96MS0

  • ROBO3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ROBO3 Protein Expression
    REFSEQ proteins: NP_071765.2  
    ENSEMBL proteins: 
     ENSP00000380903   ENSP00000441797   ENSP00000438799  
    Reactome Protein details: Q96MS0
    Human Recombinant Protein Products for ROBO3: 
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    Novus Biologicals ROBO3 Protein
    Novus Biologicals ROBO3 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ROBO3 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane NAS15105459
    GO:0030424axon IEA--

    ROBO3 for ontologies           About GeneDecksing



    ROBO3 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for ROBO3 

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    Cloud-Clone Corp. ELISAs for ROBO3 
    Cloud-Clone Corp. CLIAs for ROBO3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing
    IGD: Immunoglobulin superfamily / Immunoglobulin-like 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 Q96MS0

    ProtoNet protein and cluster: Q96MS0

    1 Blocks protein domain: IPB003598 Immunoglobulin C-2 type

    UniProtKB/Swiss-Prot: ROBO3_HUMAN, Q96MS0
    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


    ROBO3 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ROBO3_HUMAN, Q96MS0
    Function: Thought to be involved during neural development in axonal navigation at the ventral midline of the
    neural tube. In spinal chord development plays a role in guiding commissural axons probably by preventing
    premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1 (By similarity). Required for
    hindbrain axon midline crossing

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042803protein homodimerization activity IEA--
    GO:0046982protein heterodimerization activity IEA--
         
    ROBO3 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Robo3):
     behavior/neurological  cellular  embryogenesis  hearing/vestibular/ear  homeostasis/metabolism 
     mortality/aging  nervous system  respiratory system 

    ROBO3 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ROBO3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ROBO3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ROBO3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ROBO3 

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate ROBO3:
    hsa-miR-383
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    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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                         Customized lentivirus expression plasmids for stable overexpression of ROBO3 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ROBO3


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ROBO3 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Development Slit-Robo signaling
    Development Slit-Robo signaling0.92
    Cytoskeleton remodeling Slit-Robo signaling0.92
    2Axon guidance
    Axon guidance0.69
    Developmental Biology0.69
    3Activation of Rac
    Signaling by Robo receptor0.44
    4Regulation of Commissural axon pathfinding by Slit and Robo
    Regulation of Commissural axon pathfinding by Slit and Robo
    5Axon guidance
    Axon guidance

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ROBO3
        Cytoskeleton remodeling Slit-Robo signaling


    1 GeneGo (Thomson Reuters) Pathway for ROBO3
        Development Slit-Robo signaling

    4        Reactome Pathways for ROBO3
        Regulation of Commissural axon pathfinding by Slit and Robo
    Developmental Biology
    Signaling by Robo receptor
    Axon guidance


    1         Kegg Pathway  (Kegg details for ROBO3):
        Axon guidance


    ROBO3 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ROBO3

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for ROBO3 (Q96MS03 ENSP000003809034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APOA1P026473, ENSP000002368504I2D: score=1 STRING: ENSP00000236850
    SLIT2ENSP000002737394STRING: ENSP00000273739
    --ENSP000003814504STRING: ENSP00000381450
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration IEA--
    GO:0007411axon guidance TAS--
    GO:0016199axon midline choice point recognition ISS--

    ROBO3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ROBO3

    Search CenterWatch for drugs/clinical trials and news about ROBO3

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ROBO3 gene: 
    NM_022370.3  

    Unigene Cluster for ROBO3:

    Roundabout, axon guidance receptor, homolog 3 (Drosophila)
    Hs.435621  [show with all ESTs]
    Unigene Representative Sequence: AY509035
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000397801(uc001qbc.3) ENST00000538940 ENST00000527196 ENST00000527245
    ENST00000529658(uc001qbe.3) ENST00000531545 ENST00000525448(uc001qbd.2 uc010sar.2)
    ENST00000528144 ENST00000531888 ENST00000528068 ENST00000532472 ENST00000531119
    ENST00000530647 ENST00000526551 ENST00000528820 ENST00000525482 ENST00000534598(uc010saq.2)
    ENST00000531075
    miRNA
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    hsa-miR-383
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ROBO3

    Additional mRNA sequence: 

    AK024697.1 AK225076.1 AK291045.1 AK295475.1 AK298792.1 AY509035.1 BC008623.1 BC086878.1 
    BC113744.1 

    16 DOTS entries:

    DT.40110289  DT.100840344  DT.40230585  DT.442541  DT.101955366  DT.100779566  DT.95081990  DT.95157157 
    DT.95157158  DT.95269684  DT.102827704  DT.120689307  DT.86853122  DT.91993768  DT.95269686  DT.121625455 

    24/81 AceView cDNA sequences (see all 81):

    NM_022370 BQ636130 BU621134 AI280275 BI820772 AI857436 BI914797 AI797532 
    BM713722 AL539651 BM676426 AY509035 AA347486 BQ000315 AI857437 AI278048 
    BI756546 BI835742 AA347485 BX441933 H07938 AI292326 BI914047 BI765225 

    GeneLoc Exon Structure

    5/18 Alternative Splicing Database (ASD) splice patterns (SP) for ROBO3 (see all 18)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d · 18e · 18f · 18g ^ 19 ^ 20 ^
    SP1:                                                                                                        -     -     -     -     -     -     -               
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                  -         
    SP5:                                                                                                                                                  -         

    ExUns: 21 ^ 22a · 22b · 22c · 22d · 22e · 22f · 22g · 22h ^ 23 ^ 24a · 24b · 24c ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30
    SP1:  -                 -     -     -     -     -     -                                                                     
    SP2:  -                                   -     -     -                                                                     
    SP3:                    -     -     -     -     -     -           -     -     -                                             
    SP4:  -                 -     -     -     -     -     -     -                                                               
    SP5:  -                 -     -     -     -     -     -     -     -     -     -     -                                       


    ECgene alternative splicing isoforms for ROBO3

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ROBO3 expression in normal human tissues (normalized intensities)      ROBO3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTGCCACGG
    ROBO3 Expression
    About this image


    ROBO3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Metencephalon
             brain/midbrain/lateral wall   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Medulla Oblongata
             brain/midbrain/lateral wall   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             nGnG Amacrine Cells Inner Nuclear Layer

    See ROBO3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ROBO3

    SOURCE GeneReport for Unigene cluster: Hs.435621
        SABiosciences Custom PCR Arrays for ROBO3
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ROBO3

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ROBO3 gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Robo31 , 5 roundabout homolog 3 (Drosophila)1, 5 84.44(n)1
    86.08(a)1
      9 (20.76 cM)5
    196491  NM_001164767.11  NP_001158239.11 
     374156695 
    chicken
    (Gallus gallus)
    Aves ROBO31 roundabout, axon guidance receptor, homolog 3 (Drosophila) 64.91(n)
    58.84(a)
      100858578  XM_003642597.1  XP_003642645.1 
    lizard
    (Anolis carolinensis)
    Reptilia ROBO36
    roundabout, axon guidance receptor, homolog 3 (Dro...
    47(a)
    1 ↔ 1
    GL343367.1(266264-455781)
    zebrafish
    (Danio rerio)
    Actinopterygii robo31 roundabout homolog 3 60.35(n)
    55.78(a)
      30770  NM_131482.2  NP_571557.1 


    ENSEMBL Gene Tree for ROBO3 (if available)
    TreeFam Gene Tree for ROBO3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ROBO3 gene
    ROBO22  CHL12  CNTN22  CNTN62  ROBO12  CNTN52  CNTN42  NFASC2  
    NRCAM2  CNTN32  L1CAM2  CNTN12  
    13 SIMAP similar genes for ROBO3 using alignment to 5 protein entries:     ROBO3_HUMAN (see all proteins):
    ROBO2    PTPRD    ROBO1    PRTG    PTPRF    PTPRS
    MUSK    NRCAM    HMCN2    CNTN4    FGFR4    IGDCC3
    IGLV3-25

    ROBO3 for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/512 SNPs in ROBO3 are shown (see all 512)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0190734
    Familial horizontal gaze palsy with progressive scoliosis (HGPPS)4--see VAR_0190732 E K mis40--------
    VAR_0191204
    Familial horizontal gaze palsy with progressive scoliosis (HGPPS)4--see VAR_0191202 I L mis40--------
    VAR_0190744
    Familial horizontal gaze palsy with progressive scoliosis (HGPPS)4--see VAR_0190742 R P mis40--------
    VAR_0191214
    Familial horizontal gaze palsy with progressive scoliosis (HGPPS)4--see VAR_0191212 G E mis40--------
    VAR_0191194
    Familial horizontal gaze palsy with progressive scoliosis (HGPPS)4--see VAR_0191192 L P mis40--------
    VAR_0190754
    Familial horizontal gaze palsy with progressive scoliosis (HGPPS)4--see VAR_0190752 S P mis40--------
    rs1219182711,2
    Cpathogenic1124611510(+) TTTCCA/C/GGGTGT 2 P R mis10--------
    rs1145727531,2
    C,Funtested1124608776(+) TTCAGA/C/TCGACG 2 P S mis11WA 118
    rs341270601,2
    C,F--120681684(+) TTTCGC/-CCCCC 1 -- int12Minor allele frequency- -:0.50NA CSA 4
    rs112198201,2
    C,A--120681690(+) CCCCCC/ACCGCC 1 -- int14Minor allele frequency- A:0.12NA WA 8

    HapMap Linkage Disequilibrium report for ROBO3 (124735282 - 124751370 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ROBO3:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv531CNV Insertion18451855
    nsv520150CNV Loss19592680


    Human Gene Mutation Database (HGMD): ROBO3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing ROBO3
    DNA2.0 Custom Variant and Variant Library Synthesis for ROBO3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608630   
    OMIM disorders: 607313  
    UniProtKB/Swiss-Prot: ROBO3_HUMAN, Q96MS0
  • Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]: Patients show a medulla
    where motor and sensory projections appear uncrossed. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 16 diseases for ROBO3:    About MalaCards
    scoliosis    horizontal gaze palsy with progressive scoliosis    familial horizontal gaze palsy with progressive scoliosis    gilles de la tourette syndrome
    amblyopia    duane retraction syndrome    congenital nystagmus    hyperopia
    vesicoureteral reflux    retinoblastoma    paralysis    cervical cancer
    cervicitis    rheumatoid arthritis    arthritis    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for ROBO3:
    Hyperopia     Amblyopia

    ROBO3 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ROBO3 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paralysis 63.9 8 18829051 (2), 15824346 (2), 16894121 (1), 16772357 (1) (see all 6)

    Genetic Association Database (GAD): ROBO3
    Human Genome Epidemiology (HuGE) Navigator: ROBO3 (3 documents)

    Export disorders for ROBO3 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)
    About This Section

    PubMed articles for ROBO3 gene, integrated from 9 sources (see all 31):
    (articles sorted by number of sources associating them with ROBO3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. (PubMed id 15105459)1, 2, 3, 9 Jen J.C.... Engle E.C. (2004)
    2. Genetic analyses of Roundabout (ROBO) axon guidance receptors in autism. (PubMed id 18270976)1, 4 Anitha A....Mori N. (2008)
    3. Association study between Gilles de la Tourette Syndrome and two genes in the Robo-Slit pathway located in the chromosome 11q24 linked/associated region. (PubMed id 17671968)1, 4 Miranda D.M....Barr C.L. (2008)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Evidence for the existence of two Robo3 isoforms with divergent biochemical properties. (PubMed id 16226035)1, 9 Camurri L....Andrews W. (2005)
    6. Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. (PubMed id 18829051)1, 9 Abu-Amero K.K....Bosley T.M. (2009)
    7. Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. (PubMed id 15824346)1, 9 Bosley T.M....Baloh R.W. (2005)
    8. Horizontal gaze palsy and progressive scoliosis due t o a deleterious mutation in ROBO3. (PubMed id 21592015)1 Abu-Amero K.K....Bosley T.M. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Horizontal gaze palsy and progressive scoliosis witho ut ROBO3 mutations. (PubMed id 21510772)1 Abu-Amero K.K....Bosley T.M. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    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)
    About This Section
    Entrez Gene: 64221 HGNC: 13433 AceView: ROBO3 Ensembl:ENSG00000154134 euGenes: HUgn64221
    ECgene: ROBO3 Kegg: 64221 H-InvDB: ROBO3

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ROBO3 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ROBO3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ROBO3 gene:
    Search GeneIP for patents involving ROBO3

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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