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Aliases for ROBO3 Gene

Aliases for ROBO3 Gene

  • Roundabout, Axon Guidance Receptor, Homolog 3 (Drosophila) 2 3
  • Roundabout-Like Protein 3 3 4
  • RBIG1 3 6
  • HGPPS 3 6
  • RIG1 3 6
  • Roundabout (Axon Guidance Receptor, Drosophila) Homolog 3 2
  • Horizontal Gaze Palsy With Progressive Scoliosis 2
  • Retinoblastoma Inhibiting Gene 1 3
  • Roundabout Homolog 3 3
  • HGPS 3

External Ids for ROBO3 Gene

Previous Symbols for ROBO3 Gene

  • HGPPS

Summaries for ROBO3 Gene

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 gaze palsy, horizontal, with progressive scoliosis. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is PRTG.

UniProtKB/Swiss-Prot for ROBO3 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ROBO3 Gene

Genomics for ROBO3 Gene

Genomic Location for ROBO3 Gene

Start:
124,865,386 bp from pter
End:
124,881,474 bp from pter
Size:
16,089 bases
Orientation:
Plus strand

Genomic View for ROBO3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ROBO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ROBO3 Gene

Regulatory Elements for ROBO3 Gene

Proteins for ROBO3 Gene

  • Protein details for ROBO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96MS0-ROBO3_HUMAN
    Recommended name:
    Roundabout homolog 3
    Protein Accession:
    Q96MS0
    Secondary Accessions:

    Protein attributes for ROBO3 Gene

    Size:
    1386 amino acids
    Molecular mass:
    148209 Da
    Quaternary structure:
    • Probably interacts with SLIT2.

    Alternative splice isoforms for ROBO3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ROBO3 Gene

Proteomics data for ROBO3 Gene at MOPED

Post-translational modifications for ROBO3 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn25, Asn34, Asn41, Asn53, Asn156, Asn410, Asn459, Asn503, Asn784, Asn813, and Asn820

Other Protein References for ROBO3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ROBO3 Gene

Domains for ROBO3 Gene

Gene Families for ROBO3 Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • FN3 :Fibronectin type III domain containing
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing

Protein Domains for ROBO3 Gene

UniProtKB/Swiss-Prot:

ROBO3_HUMAN
Domain:
  • Contains 3 fibronectin type-III domains.:
    • Q96MS0
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.:
    • Q96MS0
Family:
  • Belongs to the immunoglobulin superfamily. ROBO family.:
    • Q96MS0
genes like me logo Genes that share domains with ROBO3: view

Function for ROBO3 Gene

Molecular function for ROBO3 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for ROBO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with ROBO3: view
genes like me logo Genes that share phenotypes with ROBO3: view

miRNA for ROBO3 Gene

miRTarBase miRNAs that target ROBO3

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for ROBO3 Gene

Localization for ROBO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ROBO3 Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ROBO3 Gene COMPARTMENTS Subcellular localization image for ROBO3 gene
Compartment Confidence
plasma membrane 3
cytosol 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for ROBO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane NAS 15105459
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with ROBO3: view

Pathways for ROBO3 Gene

genes like me logo Genes that share pathways with ROBO3: view

Pathways by source for ROBO3 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for ROBO3 Gene
1 KEGG pathway for ROBO3 Gene

Interacting Proteins for ROBO3 Gene

Gene Ontology (GO) - Biological Process for ROBO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001764 neuron migration IEA --
GO:0007411 axon guidance TAS --
GO:0016199 axon midline choice point recognition ISS --
GO:0071679 commissural neuron axon guidance IEA --
genes like me logo Genes that share ontologies with ROBO3: view

Transcripts for ROBO3 Gene

Unigene Clusters for ROBO3 Gene

Roundabout, axon guidance receptor, homolog 3 (Drosophila):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ROBO3 Gene

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: -
SP6: -
SP7: - -
SP8:
SP9: -
SP10: -
SP11: - -
SP12: -
SP13:
SP14:
SP15:
SP16: - -
SP17:
SP18: -

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: - - - - - - - - - - - -
SP6: - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - - -
SP9: - - - -
SP10: - - - - -
SP11: - - - - - - - - - - -
SP12: -
SP13: -
SP14: -
SP15:
SP16: -
SP17:
SP18: - -

Relevant External Links for ROBO3 Gene

GeneLoc Exon Structure for
ROBO3
ECgene alternative splicing isoforms for
ROBO3

Expression for ROBO3 Gene

mRNA expression in normal human tissues for ROBO3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ROBO3 Gene

This gene is overexpressed in Ovary (4.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ROBO3 Gene

SOURCE GeneReport for Unigene cluster for ROBO3 Gene Hs.435621

genes like me logo Genes that share expressions with ROBO3: view

Orthologs for ROBO3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ROBO3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ROBO3 36
  • 98.78 (n)
  • 98.65 (a)
ROBO3 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ROBO3 36
  • 88.5 (n)
  • 90.17 (a)
ROBO3 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ROBO3 36
  • 89.82 (n)
  • 90.47 (a)
ROBO3 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Robo3 36
  • 84.34 (n)
  • 85.93 (a)
Robo3 16
Robo3 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ROBO3 37
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ROBO3 37
  • 50 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Robo3 36
  • 85.36 (n)
  • 86.63 (a)
chicken
(Gallus gallus)
Aves ROBO3 36
  • 64.53 (n)
  • 58.01 (a)
ROBO3 37
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ROBO3 37
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia robo3 36
  • 57.94 (n)
  • 56.24 (a)
zebrafish
(Danio rerio)
Actinopterygii robo3 36
  • 60.03 (n)
  • 55.31 (a)
robo3 37
  • 48 (a)
OneToMany
ROBO3 (2 of 3) 37
  • 44 (a)
OneToMany
ROBO3 (3 of 3) 37
  • 37 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010970 36
  • 48.05 (n)
  • 38.6 (a)
fruit fly
(Drosophila melanogaster)
Insecta lea 37
  • 25 (a)
ManyToMany
robo 37
  • 27 (a)
ManyToMany
robo3 37
  • 26 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea sax-3 37
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 22 (a)
OneToMany
Species with no ortholog for ROBO3:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ROBO3 Gene

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

Paralogs for ROBO3 Gene

Selected SIMAP similar genes for ROBO3 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with ROBO3: view

Variants for ROBO3 Gene

Sequence variations from dbSNP and Humsavar for ROBO3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs2155417 -- 124,864,390(-) CCTGA(C/G)GTAAG upstream-variant-2KB
rs3802905 -- 124,879,688(+) TTGGG(C/G)TGTTC intron-variant
rs3862618 - 124,872,469(-) CCCCA(C/T)GCTGC missense, reference
rs3923889 -- 124,870,315(+) GACCC(C/T)CTTCT intron-variant
rs3923890 -- 124,870,514(+) CTTTA(A/T)GTACC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ROBO3 Gene

Variant ID Type Subtype PubMed ID
nsv531 CNV Insertion 18451855
nsv520150 CNV Loss 19592680

Relevant External Links for ROBO3 Gene

HapMap Linkage Disequilibrium report
ROBO3
Human Gene Mutation Database (HGMD)
ROBO3

Disorders for ROBO3 Gene

(1) OMIM Diseases for ROBO3 Gene (608630)

UniProtKB/Swiss-Prot

ROBO3_HUMAN
  • Familial horizontal gaze palsy with progressive scoliosis (HGPPS) [MIM:607313]: Patients show a medulla where motor and sensory projections appear uncrossed. {ECO:0000269 PubMed:15105459}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for ROBO3 Gene

(1) Novoseek inferred disease relationships for ROBO3 Gene

Disease -log(P) Hits PubMed IDs
paralysis 63.9 8

Relevant External Links for ROBO3

Genetic Association Database (GAD)
ROBO3
Human Genome Epidemiology (HuGE) Navigator
ROBO3
genes like me logo Genes that share disorders with ROBO3: view

Publications for ROBO3 Gene

  1. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. (PMID: 15105459) Jen J.C. … Engle E.C. (Science 2004) 2 3 4 23
  2. Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. (PMID: 15824346) Bosley T.M. … Baloh R.W. (Neurology 2005) 3 23
  3. Evidence for the existence of two Robo3 isoforms with divergent biochemical properties. (PMID: 16226035) Camurri L. … Andrews W. (Mol. Cell. Neurosci. 2005) 3 23
  4. Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. (PMID: 18829051) Abu-Amero K.K. … Bosley T.M. (J. Neurol. Sci. 2009) 3 23
  5. Association study between Gilles de la Tourette Syndrome and two genes in the Robo-Slit pathway located in the chromosome 11q24 linked/associated region. (PMID: 17671968) Miranda D.M. … Barr C.L. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2008) 3 49

Products for ROBO3 Gene

Sources for ROBO3 Gene

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