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Aliases for ROBO3 Gene

Aliases for ROBO3 Gene

  • Roundabout Guidance Receptor 3 2 3 5
  • Roundabout-Like Protein 3 3 4
  • Roundabout, Axon Guidance Receptor, Homolog 3 (Drosophila) 2
  • Roundabout (Axon Guidance Receptor, Drosophila) Homolog 3 2
  • Horizontal Gaze Palsy With Progressive Scoliosis 2
  • Roundabout, Axon Guidance Receptor, Homolog 3 3
  • Retinoblastoma Inhibiting Gene 1 3
  • Roundabout Homolog 3 3
  • HGPPS1 3
  • RBIG1 3
  • HGPPS 3
  • HGPS 3
  • RIG1 3

External Ids for ROBO3 Gene

Previous HGNC Symbols for ROBO3 Gene

  • HGPPS

Previous GeneCards Identifiers for ROBO3 Gene

  • GC11P124284
  • GC11P124240
  • GC11P124735
  • GC11P120677

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 Guidance Receptor 3) is a Protein Coding gene. Diseases associated with ROBO3 include Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 1 and Horizontal Gaze Palsy With Progressive Scoliosis. Among its related pathways are Developmental Biology and Development Slit-Robo signaling. An important paralog of this gene is ROBO2.

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

Additional gene information for ROBO3 Gene

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

Genomics for ROBO3 Gene

GeneHancer (GH) Regulatory Elements for ROBO3 Gene

Promoters and enhancers for ROBO3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J124875 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 660.2 +11.7 11741 2 ARID4B SIN3A ZNF2 YY1 POLR2B ZNF143 KLF13 SP3 REST ZNF592 ROBO3 GC11M124874 GC11M124876 MSANTD2
GH11J124865 Promoter 0.9 EPDnew 650.7 +0.4 407 0.1 SUZ12 SP2 ZNF398 ZIC2 ZFHX2 ZNF366 PATZ1 GLIS1 ZNF600 ZBTB17 ROBO3 GC11M124861 GC11M124874
GH11J124894 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 24.1 +32.7 32732 8.2 ELF3 ARID4B RARA ZNF614 FOS NR2F2 SP1 NFIL3 ETV4 FOXP1 ROBO4 ROBO3 HEPACAM CCDC15 ENSG00000254943
GH11J124882 Enhancer 1.3 Ensembl ENCODE dbSUPER 19.8 +17.8 17788 1.2 HDAC1 ELF3 FOXA2 MLX ZFP64 ARID4B THRB RAD21 RARA ETS1 ENSG00000254568 ROBO3 GC11M124876
GH11J125061 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 6.4 +197.9 197948 3.5 ZFP64 ARID4B SIN3A IRF4 ZNF48 YY1 GLIS2 ZNF207 ZNF143 ATF7 SLC37A2 CCDC15 ROBO3 GC11M125054 GC11M125045
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ROBO3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ROBO3 gene promoter:
  • NRSF form 1
  • NRSF form 2
  • LCR-F1
  • Nkx2-5
  • USF1
  • USF-1
  • CBF-C
  • CBF-B
  • CBF-A
  • CBF(2)

Genomic Locations for ROBO3 Gene

Genomic Locations for ROBO3 Gene
chr11:124,865,006-124,881,474
(GRCh38/hg38)
Size:
16,469 bases
Orientation:
Plus strand
chr11:124,735,282-124,751,370
(GRCh37/hg19)
Size:
16,089 bases
Orientation:
Plus strand

Genomic View for ROBO3 Gene

Genes around ROBO3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ROBO3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ROBO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

    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

Post-translational modifications for ROBO3 Gene

  • Glycosylation at posLast=820820, Asn813, posLast=784784, posLast=503503, Asn459, posLast=410410, Asn156, posLast=5353, Asn41, posLast=3434, and Asn25
  • Modification sites at PhosphoSitePlus

Other Protein References for ROBO3 Gene

No data available for DME Specific Peptides for ROBO3 Gene

Domains & Families for ROBO3 Gene

Gene Families for ROBO3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ROBO3 Gene

Suggested Antigen Peptide Sequences for ROBO3 Gene

Graphical View of Domain Structure for InterPro Entry

Q96MS0

UniProtKB/Swiss-Prot:

ROBO3_HUMAN :
  • Belongs to the immunoglobulin superfamily. ROBO family.
Family:
  • Belongs to the immunoglobulin superfamily. ROBO family.
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 IPI 26586761
genes like me logo Genes that share ontologies with ROBO3: view
genes like me logo Genes that share phenotypes with ROBO3: view

Human Phenotype Ontology for ROBO3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ROBO3 Gene

MGI Knock Outs for ROBO3:

Animal Model Products

miRNA for ROBO3 Gene

miRTarBase miRNAs that target ROBO3

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ROBO3 gene
Compartment Confidence
plasma membrane 5
nucleus 2
extracellular 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ROBO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane NAS,IEA 15105459
GO:0030424 axon IEA --
genes like me logo Genes that share ontologies with ROBO3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ROBO3 Gene

Pathways & Interactions for ROBO3 Gene

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

Pathways by source for ROBO3 Gene

1 GeneGo (Thomson Reuters) pathway for ROBO3 Gene

Gene Ontology (GO) - Biological Process for ROBO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006935 chemotaxis IEA --
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007411 axon guidance NAS,IEA 15105459
GO:0016199 axon midline choice point recognition ISS --
genes like me logo Genes that share ontologies with ROBO3: view

No data available for SIGNOR curated interactions for ROBO3 Gene

Drugs & Compounds for ROBO3 Gene

No Compound Related Data Available

Transcripts for ROBO3 Gene

mRNA/cDNA for ROBO3 Gene

Unigene Clusters for ROBO3 Gene

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

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x4.9).

Protein differential expression in normal tissues from HIPED for ROBO3 Gene

This gene is overexpressed in Heart (42.6) and Plasma (26.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ROBO3 Gene



Protein tissue co-expression partners for ROBO3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ROBO3 Gene:

ROBO3

SOURCE GeneReport for Unigene cluster for ROBO3 Gene:

Hs.435621

Evidence on tissue expression from TISSUES for ROBO3 Gene

  • Nervous system(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ROBO3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
  • neck
Thorax:
  • lung
  • rib
  • rib cage
Pelvis:
  • pelvis
General:
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ROBO3: view

No data available for mRNA Expression by UniProt/SwissProt for ROBO3 Gene

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 34 33
  • 98.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ROBO3 34 33
  • 89.82 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ROBO3 34 33
  • 88.5 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Robo3 33
  • 85.36 (n)
mouse
(Mus musculus)
Mammalia Robo3 16 34 33
  • 84.34 (n)
oppossum
(Monodelphis domestica)
Mammalia ROBO3 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ROBO3 34
  • 50 (a)
OneToOne
chicken
(Gallus gallus)
Aves ROBO3 34 33
  • 64.53 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ROBO3 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia robo3 33
  • 57.94 (n)
zebrafish
(Danio rerio)
Actinopterygii robo3 34 33
  • 60.03 (n)
OneToMany
ROBO3 (2 of 3) 34
  • 44 (a)
OneToMany
ROBO3 (3 of 3) 34
  • 37 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010970 33
  • 48.05 (n)
fruit fly
(Drosophila melanogaster)
Insecta robo 34
  • 27 (a)
ManyToMany
robo3 34
  • 26 (a)
ManyToMany
lea 34
  • 25 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea sax-3 34
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 22 (a)
OneToMany
Species where no ortholog for ROBO3 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ROBO3: view image

Paralogs for ROBO3 Gene

Paralogs for ROBO3 Gene

(13) SIMAP similar genes for ROBO3 Gene using alignment to 5 proteins:

  • ROBO3_HUMAN
  • F5GWJ5_HUMAN
  • F5H0K7_HUMAN
  • Q96HH0_HUMAN
  • Q9H7C7_HUMAN
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 Variation AA Info Type
rs1006188148 uncertain-significance, Gaze palsy, familial horizontal, with progressive scoliosis 124,881,318(+) C/G 3_prime_UTR_variant
rs111277969 likely-benign, Gaze palsy, familial horizontal, with progressive scoliosis 124,878,300(+) G/A coding_sequence_variant, missense_variant
rs11219820 benign, Gaze palsy, familial horizontal, with progressive scoliosis 124,869,436(+) A/C intron_variant
rs11219826 uncertain-significance, Gaze palsy, familial horizontal, with progressive scoliosis 124,879,812(+) G/A/T coding_sequence_variant, synonymous_variant
rs114572753 uncertain-significance, Gaze palsy, familial horizontal, with progressive scoliosis 124,872,411(+) C/A/T coding_sequence_variant, missense_variant

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

Variant ID Type Subtype PubMed ID
nsv1054824 CNV gain 25217958
nsv520150 CNV loss 19592680
nsv531 CNV insertion 18451855

Variation tolerance for ROBO3 Gene

Residual Variation Intolerance Score: 76.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.52; 98.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ROBO3 Gene

Human Gene Mutation Database (HGMD)
ROBO3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ROBO3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ROBO3 Gene

Disorders for ROBO3 Gene

MalaCards: The human disease database

(9) MalaCards diseases for ROBO3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ROBO3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ROBO3_HUMAN
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1 (HGPPS1) [MIM:607313]: An autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth, childhood-onset progressive scoliosis, distinctive brainstem malformation and defective crossing of some brainstem neuronal pathways. {ECO:0000269 PubMed:15105459}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ROBO3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ROBO3: view

No data available for Genatlas for ROBO3 Gene

Publications for ROBO3 Gene

  1. Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. (PMID: 15105459) Jen JC … Engle EC (Science (New York, N.Y.) 2004) 2 3 4 22 58
  2. Five new consanguineous families with horizontal gaze palsy and progressive scoliosis and novel ROBO3 mutations. (PMID: 18829051) Abu-Amero KK … Bosley TM (Journal of the neurological sciences 2009) 3 22 58
  3. Genetic analyses of roundabout (ROBO) axon guidance receptors in autism. (PMID: 18270976) Anitha A … Mori N (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 44 58
  4. 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 DM … Barr CL (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 44 58
  5. Evidence for the existence of two Robo3 isoforms with divergent biochemical properties. (PMID: 16226035) Camurri L … Andrews W (Molecular and cellular neurosciences 2005) 3 22 58

Products for ROBO3 Gene

Sources for ROBO3 Gene

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