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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... See more...
Aliases for ROBO3 Gene
Aliases for ROBO3 Gene
External Ids for ROBO3 Gene
- HGNC: 13433
- Entrez Gene: 64221
- Ensembl: ENSG00000154134
- OMIM: 608630
- UniProtKB: Q96MS0
Previous HGNC Symbols for ROBO3 Gene
- HGPPS
Previous GeneCards Identifiers for ROBO3 Gene
- GC11P124284
- GC11P124240
- GC11P124735
- GC11P120677
Summaries 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. [provided by RefSeq, May 2019]
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 Development Slit-Robo signaling and Axon guidance. An important paralog of this gene is ROBO1.
UniProtKB/Swiss-Prot Summary for ROBO3 Gene
-
Thought to be involved during neural development in axonal navigation at the ventral midline of the neural tube (By similarity). 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 (PubMed:15105459).
Additional gene information for ROBO3 Gene
- HGNC(13433)
- Entrez Gene(64221)
- Ensembl(ENSG00000154134)
- OMIM(608630)
- UniProtKB(Q96MS0)
- Open Targets Platform(ENSG00000154134)
- Monarch Initiative
- Search for ROBO3 at DataMed
- Search for ROBO3 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ROBO3 Gene
Genomics for ROBO3 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ROBO3 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ROBO3
- Top Transcription factor binding sites by QIAGEN in the ROBO3 gene promoter:
-
- CBF(2)
- CBF-A
- CBF-B
- CBF-C
- LCR-F1
- Nkx2-5
- NRSF form 1
- NRSF form 2
- USF-1
- USF1
Genomic Locations for ROBO3 Gene
Genomic Locations for ROBO3 Gene
- chr11:124,865,432-124,881,471
- (GRCh38/hg38)
- Size:
- 16,040 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:
-
- 11q24.2 by HGNC
- 11q24.2 by Entrez Gene
- 11q24.2 by Ensembl
ROBO3 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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.
Protein Expression for ROBO3 Gene
Post-translational modifications for ROBO3 Gene
Other Protein References for ROBO3 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ROBO3 Polyclonal Antibody
-
Custom Antibody ServicesOriGene Antibodies for ROBO3
- Novus Biologicals Antibodies for ROBO3
-
Abcam antibodies for ROBO3
- Invitrogen Antibodies for ROBO3 (AFLGC-Robo3)
-
Biorbyt antibodies for ROBO3
-
Boster Bio Antibodies for ROBO3
- Sino Biological Antibodies for ROBO3
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ROBO3
- Origene Custom Protein Services for ROBO3
- Novus Biologicals lysates for ROBO3
- antibodies-online: Show 8 available ROBO3 Proteins ranked by validation data
- Compare Top ROBO3 Proteins
-
Quality Products:
-
Signalway Proteins for ROBO3
-
Abcam proteins for ROBO3
Assay Products
- RayBiotech Human ROBO3 ELISA
- antibodies-online: Show 6 available ROBO3 Elisa Kits ranked by validation data
- Compare Top ROBO3 Elisa Kits
-
Quality Products:
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
- InterPro:
- Blocks:
-
- Immunoglobulin C-2 type
- ProtoNet:
Suggested Antigen Peptide Sequences for ROBO3 Gene
- GenScript: Design optimal peptide antigens:
-
- ROBO3 protein (Q96HH0_HUMAN)
- cDNA: FLJ21044 fis, clone CAE11659 (Q9H7C7_HUMAN)
- Roundabout-like protein 3 (ROBO3_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96MS0- Family:
-
- Belongs to the immunoglobulin superfamily. ROBO family.
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 (By similarity). 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 (PubMed:15105459).
Phenotypes From GWAS Catalog for ROBO3 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 26586761 |
| GO:0098632 | cell-cell adhesion mediator activity | IBA | 21873635 |
Phenotypes for ROBO3 Gene
- MGI mutant phenotypes for ROBO3:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ROBO3:
Animal Models for ROBO3 Gene
- MGI Knock Outs for ROBO3:
-
- Robo3 Robo3<tm1Matl>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ROBO3 - Select products 50% OFF >
- * ROBO3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ROBO3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ROBO3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ROBO3
miRNA for ROBO3 Gene
- miRTarBase miRNAs that target ROBO3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ROBO3
- Browse OriGene Inhibitory RNA Products For ROBO3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ROBO3
Clone Products
- Applied Biological Materials (abm): Clones for ROBO3 - Select products 50% OFF >
- * ROBO3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ROBO3
Cell Line Products
-
Horizon Cell Lines for ROBO3
No data available for Enzyme Numbers (IUBMB) , 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.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| extracellular | 2 |
| cytoskeleton | 2 |
| nucleus | 2 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
- Plasma membrane (2)
- Vesicles (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA,NAS | 15105459 |
| GO:0030424 | axon | IBA | 21873635 |
Pathways & Interactions for ROBO3 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Developmental Biology |
.51
|
|
| 2 | Signaling by Robo receptor | ||
| 3 | Axon guidance | ||
| 4 | Development Slit-Robo signaling |
Development Slit-Robo signaling
.44
|
|
Pathways by source for ROBO3 Gene
4 Reactome pathways for ROBO3 Gene
1 KEGG pathway for ROBO3 Gene
1 GeneGo (Thomson Reuters) pathway for ROBO3 Gene
- Development Slit-Robo signaling
Interacting Proteins for ROBO3 Gene
Selected Interacting proteins:
Q96MS0-ROBO3_HUMAN
ENSP00000380903
for ROBO3 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for ROBO3
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006935 | chemotaxis | IEA | -- |
| GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules | IBA | 21873635 |
| GO:0007275 | multicellular organism development | IEA | -- |
| GO:0007399 | nervous system development | IEA | -- |
| GO:0007411 | axon guidance | IEA,NAS | 15105459 |
No data available for SIGNOR curated interactions for ROBO3 Gene
Transcripts for ROBO3 Gene
mRNA/cDNA for ROBO3 Gene
- 8 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000397801 4528 nts (view in UCSC)
- ENST00000524971 955 nts (view in UCSC)
- ENST00000525304 920 nts (view in UCSC)
- ENST00000525448 2139 nts (view in UCSC)
- ENST00000525482 1645 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ROBO3 - Select products 50% OFF >
- * ROBO3 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ROBO3
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ROBO3
-
Santa Cruz Biotechnology (SCBT) CRISPR for ROBO3
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ROBO3
- Browse OriGene Inhibitory RNA Products For ROBO3
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ROBO3
Clone Products
- Applied Biological Materials (abm): Clones for ROBO3 - Select products 50% OFF >
- * ROBO3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ROBO3
| 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
Expression for ROBO3 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
- nGnG Amacrine Cells Inner Nuclear Layer
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
- nGnG Amacrine Cells Inner Nuclear Layer
- Brain (Nervous System)
-
Ovary (Reproductive System)
mRNA differential expression in normal tissues according to GTEx for ROBO3 Gene
This gene is overexpressed in Ovary (x4.9).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ROBO3
SOURCE GeneReport for Unigene cluster for ROBO3 Gene:
Hs.435621Evidence on tissue expression from TISSUES for ROBO3 Gene
- Nervous system(4.1)
- Muscle(2.1)
- Kidney(2)
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
Primer Products
-
OriGene qPCR primer pairs for ROBO3
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ROBO3 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ROBO3 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ROBO3 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Robo3 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Robo3 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ROBO3 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ROBO3 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ROBO3 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ROBO3 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | robo3 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | robo3 30 31 |
|
OneToMany | |
| ROBO3 (2 of 3) 31 |
|
OneToMany | |||
| ROBO3 (3 of 3) 31 |
|
OneToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010970 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | robo 31 |
|
ManyToMany | |
| robo3 31 |
|
ManyToMany | |||
| lea 31 |
|
ManyToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | sax-3 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for ROBO3 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
- 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
Variants for ROBO3 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ROBO3 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 711918 | Benign: not provided | 124,873,038(+) | C/T | SYNONYMOUS_VARIANT | |
| 716324 | Benign/Likely Benign: Gaze palsy, familial horizontal, with progressive scoliosis 1; not provided | 124,876,004(+) | A/C | SYNONYMOUS_VARIANT | |
| 722199 | Benign: not provided | 124,876,082(+) | C/T | SYNONYMOUS_VARIANT | |
| 724400 | Likely Benign: not provided | 124,873,062(+) | C/T | SYNONYMOUS_VARIANT | |
| 725204 | Likely Benign: not provided | 124,877,263(+) | C/A | INTRON_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ROBO3 Gene
Disorders for ROBO3 Gene
(23) MalaCards diseases for ROBO3 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| gaze palsy, familial horizontal, with progressive scoliosis 1 |
|
|
| horizontal gaze palsy with progressive scoliosis |
|
|
| scoliosis |
|
|
| esotropia |
|
|
| dissociated nystagmus |
|
|
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
- Open Targets Platform
No data available for Genatlas for ROBO3 Gene
Publications for ROBO3 Gene
- 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 23
- 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 23
- 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 41
- 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 41
- Neurologic features of horizontal gaze palsy and progressive scoliosis with mutations in ROBO3. (PMID: 15824346) Bosley TM … Baloh RW (Neurology 2005) 3 23
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Products for ROBO3 Gene
- View all 5 R&D Systems ROBO3 (ROBO3) Products
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- antibodies-online: Show 13 available ROBO3 Antibodies ranked by validation data
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- Horizon Cell Lines for ROBO3
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- Boster Bio Antibodies for ROBO3
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Sources for ROBO3 Gene
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