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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 backwa... See more...
Aliases for ROBO2 Gene
Aliases for ROBO2 Gene
External Ids for ROBO2 Gene
- HGNC: 10250
- Entrez Gene: 6092
- Ensembl: ENSG00000185008
- OMIM: 602431
- UniProtKB: Q9HCK4
Previous GeneCards Identifiers for ROBO2 Gene
- GC03P075389
- GC03P077181
- GC03P076895
- GC03P077010
- GC03P077009
- GC03P077172
- GC03P077608
- GC03P076069
Summaries 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 Guidance Receptor 2) is a Protein Coding gene. Diseases associated with ROBO2 include Vesicoureteral Reflux 2 and Familial Vesicoureteral Reflux. Among its related pathways are Development Slit-Robo signaling and Axon guidance. Gene Ontology (GO) annotations related to this gene include identical protein binding and axon guidance receptor activity. An important paralog of this gene is ROBO1.
UniProtKB/Swiss-Prot Summary for ROBO2 Gene
-
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.
Additional gene information for ROBO2 Gene
- HGNC(10250)
- Entrez Gene(6092)
- Ensembl(ENSG00000185008)
- OMIM(602431)
- UniProtKB(Q9HCK4)
- Open Targets Platform(ENSG00000185008)
- Monarch Initiative
- Search for ROBO2 at DataMed
- Search for ROBO2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ROBO2 Gene
Genomics for ROBO2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ROBO2 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| GH03J075906 | Promoter/Enhancer | 1.2 | Ensembl ENCODE CraniofacialAtlas | 600.7 | +0.3 | 310 | 1.6 | CTCF POLR2A RAD21 TAF1 TBP L3MBTL2 EZH2 | NONHSAG035458.2 ROBO2 ZNF717 ENSG00000222883 | |
| GH03J076684 | Enhancer | 0.4 | FANTOM5 Ensembl | 4.5 | +777.6 | 777556 | 0.5 | ROBO2 LOC102724949 piR-43568 | ||
| GH03J076556 | Enhancer | 0.2 | FANTOM5 | 2.4 | +649.7 | 649696 | 0.4 | ROBO2 piR-43568 LOC102724949 | ||
| GH03J076041 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 0.1 | +136.9 | 136926 | 3.6 | CTCF TEAD4 FOXA1 RAD21 SMC3 ETS1 NANOG HLF ZNF24 POU5F1 | HNRNPA3P6 ENSG00000222883 piR-35031-032 ROBO2 | |
| GH03J076037 | Enhancer | 0.8 | Ensembl ENCODE dbSUPER | 0.1 | +132.7 | 132671 | 3.7 | ETS1 MAFK NANOG POU5F1 | LINC00960 ENSG00000222883 piR-35031-032 ROBO2 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ROBO2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ROBO2
- Top Transcription factor binding sites by QIAGEN in the ROBO2 gene promoter:
-
- AREB6
- E47
- Lmo2
- Pax-4a
- STAT1alpha
- STAT1beta
- STAT2
- STAT3
- STAT4
- Tal-1beta
Genomic Locations for ROBO2 Gene
Genomic Locations for ROBO2 Gene
- chr3:75,906,675-77,649,964
- (GRCh38/hg38)
- Size:
- 1,743,290 bases
- Orientation:
- Plus strand
- chr3:75,955,845-77,699,115
- (GRCh37/hg19)
- Size:
- 1,743,271 bases
- Orientation:
- Plus strand
Genomic View for ROBO2 Gene
Genes around ROBO2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p12.3 by HGNC
- 3p12.3 by Entrez Gene
- 3p12.3 by Ensembl
ROBO2 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 ROBO2 Gene
Proteins for ROBO2 Gene
-
Protein details for ROBO2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9HCK4-ROBO2_HUMAN
- Recommended name:
- Roundabout homolog 2
- Protein Accession:
- Q9HCK4
- O43608
- Q19AB4
- Q19AB5
Protein attributes for ROBO2 Gene
- Size:
- 1378 amino acids
- Molecular mass:
- 151200 Da
- Quaternary structure:
-
- Interacts with SLIT2.
- SequenceCaution:
-
- Sequence=AAC39576.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB13394.1; Type=Erroneous initiation; Evidence={ECO:0000305};
Three dimensional structures from OCA and Proteopedia for ROBO2 Gene
Protein Expression for ROBO2 Gene
Post-translational modifications for ROBO2 Gene
Other Protein References for ROBO2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_011532283.1
- XP_011532284.1
- XP_011532285.1
- XP_011532286.1
- XP_016862475.1
- XP_016862476.1
- XP_016862477.1
- XP_016862478.1
- XP_016862483.1
- XP_016862487.1
- XP_016862488.1
- XP_016862491.1
- XP_016862492.1
- NP_001122401.1
- NP_001276968.1
- NP_001276969.1
- NP_001276994.1
- NP_001365119.1
- NP_001365120.1
- NP_001365121.1
- NP_001365122.1
- NP_001365123.1
- NP_001365124.1
- NP_001365125.1
- NP_001365126.1
- NP_001365127.1
- NP_001365128.1
- NP_001365129.1
- NP_001365130.1
- NP_001365131.1
- NP_001365132.1
- NP_002933.1
Antibody Products
- G Biosciences Immunotag™ Robo2 Polyclonal Antibody
-
Custom Antibody ServicesOriGene Antibodies for ROBO2
- Novus Biologicals Antibodies for ROBO2
-
Abcam antibodies for ROBO2
- Invitrogen Antibodies for ROBO2 (AFLGC-ROBO2)
- antibodies-online: Show 9 available ROBO2 Antibodies ranked by validation data
- Compare Top ROBO2 Antibodies
-
Recommended
- 28 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 7 FACS Antibodies (anti-human)
- 6 IHC Antibodies (anti-human)
- 4 IHC (p) Antibodies (anti-human)
- 13 WB Antibodies (anti-rat)
- 12 IF (p) Antibodies (anti-rat)
- 3 IHC Antibodies (anti-rat)
- 3 IHC (p) Antibodies (anti-rat)
- 14 WB Antibodies (anti-mouse)
- 12 IF (p) Antibodies (anti-mouse)
- 3 IHC Antibodies (anti-mouse)
- 3 IHC (p) Antibodies (anti-mouse)
-
Boster Bio Antibodies for ROBO2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ROBO2
Protein Products
-
OriGene Purified Proteins for ROBO2
- Search Origene for MassSpec and Protein Over-expression Lysates for ROBO2
- Origene Custom Protein Services for ROBO2
- Sino Biological Cell Lysates for ROBO2
- Sino Biological Recombinant Proteins for ROBO2
-
Abcam proteins for ROBO2
Assay Products
- RayBiotech Custom Human ROBO2 ELISA
- antibodies-online: Show 2 available ROBO2 Elisa Kits ranked by validation data
- Compare Top ROBO2 Elisa Kits
-
Quality Products:
No data available for DME Specific Peptides for ROBO2 Gene
Domains & Families for ROBO2 Gene
Gene Families for ROBO2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for ROBO2 Gene
- InterPro:
- Blocks:
-
- Immunoglobulin C-2 type
- ProtoNet:
Suggested Antigen Peptide Sequences for ROBO2 Gene
- GenScript: Design optimal peptide antigens:
-
- Roundabout homolog 2 (ROBO2_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9HCK4- Family:
-
- Belongs to the immunoglobulin superfamily. ROBO family.
Function for ROBO2 Gene
Molecular function for ROBO2 Gene
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for ROBO2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IEA,IPI | 12504588 |
| GO:0008046 | axon guidance receptor activity | NAS | 9458045 |
| GO:0042802 | identical protein binding | IDA | 12504588 |
Phenotypes for ROBO2 Gene
- MGI mutant phenotypes for ROBO2:
-
inferred from 4 alleles
- nervous system phenotype
- respiratory system phenotype
- normal phenotype
- cardiovascular system phenotype
- cellular phenotype
- behavior/neurological phenotype
- mortality/aging
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- renal/urinary system phenotype
- digestive/alimentary phenotype
- reproductive system phenotype
- GenomeRNAi human phenotypes for ROBO2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ROBO2 - Select products 50% OFF >
- * ROBO2 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 ROBO2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ROBO2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ROBO2
miRNA for ROBO2 Gene
- miRTarBase miRNAs that target ROBO2
-
- hsa-miR-145-5p (MIRT005809)
- mmu-miR-223-3p (MIRT009657)
- mmu-miR-17-5p (MIRT009909)
- mmu-miR-340-5p (MIRT010361)
- mmu-miR-297a-5p (MIRT013049)
- mmu-miR-30e-5p (MIRT013235)
- mmu-miR-181a-5p (MIRT014240)
- mmu-miR-136-5p (MIRT014958)
- hsa-miR-342-5p (MIRT038206)
- hsa-miR-514b-3p (MIRT541765)
- hsa-miR-514a-3p (MIRT541766)
- hsa-miR-6844 (MIRT541767)
- hsa-miR-4801 (MIRT541768)
- hsa-miR-4731-3p (MIRT541769)
- hsa-miR-8084 (MIRT541770)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ROBO2
- Browse OriGene Inhibitory RNA Products For ROBO2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ROBO2
Clone Products
- Applied Biological Materials (abm): Clones for ROBO2 - Select products 50% OFF >
- * ROBO2 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
-
- MG210811
- MG223981
- MR210811
- MR210811L3
- MR210811L4
- MR223981
- MR223981L3
- MR223981L4
- RC224282
- RC224282L3
- RC224282L4
- RC226390
- RC226390L1
- RC226390L2
- RC226390L3
- RC226390L4
- RC239558
- RC240128
- RC240149
- RG224282
- RG226390
- RR217649
- MR210811L3V
- MR210811L4V
- MR223981L3V
- MR223981L4V
- RC224282L3V
- RC224282L4V
- RC226390L1V
- RC226390L2V
- RC226390L3V
- RC226390L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ROBO2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ROBO2
Cell Line Products
-
Horizon Cell Lines for ROBO2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ROBO2 Gene
Localization for ROBO2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ROBO2 Gene
- Membrane. Single-pass type I membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 4 |
| cytoskeleton | 3 |
| nucleus | 3 |
| mitochondrion | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| cytosol | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
| peroxisome | 0 |
- Centriolar satellite (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0009986 | cell surface | IDA | 12504588 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0030673 | axolemma | ISS | -- |
Pathways & Interactions for ROBO2 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 ROBO2 Gene
4 Reactome pathways for ROBO2 Gene
1 KEGG pathway for ROBO2 Gene
1 GeneGo (Thomson Reuters) pathway for ROBO2 Gene
- Development Slit-Robo signaling
Interacting Proteins for ROBO2 Gene
Selected Interacting proteins:
Q9HCK4-ROBO2_HUMAN
ENSP00000417335
for ROBO2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ROBO2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001656 | metanephros development | ISS | -- |
| GO:0001657 | ureteric bud development | IMP | 17357069 |
| GO:0003148 | outflow tract septum morphogenesis | ISS | -- |
| GO:0003180 | aortic valve morphogenesis | ISS | -- |
| GO:0003184 | pulmonary valve morphogenesis | ISS | -- |
No data available for SIGNOR curated interactions for ROBO2 Gene
Transcripts for ROBO2 Gene
mRNA/cDNA for ROBO2 Gene
- 19 REFSEQ mRNAs :
- 12 NCBI additional mRNA sequence :
- 13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000332191 5437 nts (view in UCSC)
- ENST00000461745 8946 nts (view in UCSC)
- ENST00000469233 780 nts (view in UCSC)
- ENST00000470802 9570 nts (view in UCSC)
- ENST00000471893 642 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ROBO2 - Select products 50% OFF >
- * ROBO2 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 ROBO2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ROBO2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ROBO2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ROBO2
- Browse OriGene Inhibitory RNA Products For ROBO2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ROBO2
Clone Products
- Applied Biological Materials (abm): Clones for ROBO2 - Select products 50% OFF >
- * ROBO2 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
-
- MG210811
- MG223981
- MR210811
- MR210811L3
- MR210811L4
- MR223981
- MR223981L3
- MR223981L4
- RC224282
- RC224282L3
- RC224282L4
- RC226390
- RC226390L1
- RC226390L2
- RC226390L3
- RC226390L4
- RC239558
- RC240128
- RC240149
- RG224282
- RG226390
- RR217649
- MR210811L3V
- MR210811L4V
- MR223981L3V
- MR223981L4V
- RC224282L3V
- RC224282L4V
- RC226390L1V
- RC226390L2V
- RC226390L3V
- RC226390L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for ROBO2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ROBO2
Relevant External Links for ROBO2 Gene
- GeneLoc Exon Structure for
- ROBO2
Expression for ROBO2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Heart (Cardiovascular System)
- Atrioventricular Node Cells Atrioventricular Node
- Atrioventricular Canal Cells Atrioventricular Canal
-
Tooth (Integumentary System)
- Dental Papilla Cells Dental Papilla
- Odontoblasts Dentin
-
Testis (Reproductive System)
- Testicular Interstitial Cells Testis Interstitium
-
Brain (Nervous System)
- Fetal Dopaminergic Neurons Substantia Nigra pars Compacta
-
Neurons
- Fetal Dopaminergic Neurons Substantia Nigra pars Compacta
mRNA differential expression in normal tissues according to GTEx for ROBO2 Gene
This gene is overexpressed in Brain - Anterior cingulate cortex (BA24) (x5.7), Brain - Putamen (basal ganglia) (x5.1), Brain - Caudate (basal ganglia) (x5.0), and Brain - Frontal Cortex (BA9) (x4.1).
This gene is overexpressed in Fetal Brain (24.9), Heart (18.0), and Breast (18.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ROBO2 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ROBO2
SOURCE GeneReport for Unigene cluster for ROBO2 Gene:
Hs.13305Evidence on tissue expression from TISSUES for ROBO2 Gene
- Nervous system(4.9)
- Kidney(2.6)
- Skin(2.3)
- Lung(2.2)
- Muscle(2.2)
- Heart(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ROBO2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- immune
- reproductive
- skeleton
- urinary
Regions:
Abdomen:
- kidney
Pelvis:
- placenta
- ureter
- urethra
- urinary bladder
- uterus
Limb:
- ankle
- digit
- elbow
- finger
- foot
- hand
- hip
- knee
- lower limb
- shoulder
- toe
- upper limb
- wrist
General:
- blood
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for ROBO2
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for ROBO2 Gene
Orthologs for ROBO2 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ROBO2 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Dog (Canis familiaris) |
Mammalia | LOC487691 30 |
|
||
| ROBO2 31 |
|
OneToOne | |||
| Cow (Bos Taurus) |
Mammalia | LOC534842 30 |
|
||
| ROBO2 31 |
|
OneToOne | |||
| Mouse (Mus musculus) |
Mammalia | Robo2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Robo2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ROBO2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ROBO2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ROBO2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | robo2 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | robo2 30 31 31 |
|
OneToMany | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | robo 30 31 |
|
ManyToMany | |
| robo3 31 |
|
ManyToMany | |||
| lea 31 |
|
ManyToMany | |||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP010969 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | sax-3 31 |
|
OneToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
- Species where no ortholog for ROBO2 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 ROBO2 Gene
- ENSEMBL:
- Gene Tree for ROBO2 (if available)
- TreeFam:
- Gene Tree for ROBO2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ROBO2: view image
Paralogs for ROBO2 Gene
Paralogs for ROBO2 Gene
(11) SIMAP similar genes for ROBO2 Gene using alignment to 9 proteins:
- ROBO2_HUMAN
- F8W703_HUMAN
- F8WBR3_HUMAN
- H7C4J7_HUMAN
- H7C4U9_HUMAN
- H7C4V8_HUMAN
- H7C4W9_HUMAN
- H9XFA4_HUMAN
- R4GMM8_HUMAN
Pseudogenes.org Pseudogenes for ROBO2 Gene
Variants for ROBO2 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ROBO2 Gene
| SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 711368 | Likely Benign: not provided | 77,558,088(+) | C/T | MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 718511 | Likely Benign: not provided | 77,602,294(+) | C/T | MISSENSE_VARIANT | |
| 730767 | Likely Benign: not provided | 77,617,687(+) | C/T | SYNONYMOUS_VARIANT | |
| 734237 | Benign: not provided | 77,098,123(+) | G/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
| 744404 | Likely Benign: not provided | 77,574,711(+) | G/A | SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
5.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.82;
58.45% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ROBO2 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ROBO2 Gene
Disorders for ROBO2 Gene
(13) MalaCards diseases for ROBO2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| vesicoureteral reflux 2 |
|
|
| familial vesicoureteral reflux |
|
|
| renal hypoplasia |
|
|
| papillorenal syndrome |
|
|
| vesicoureteral reflux 1 |
|
|
Search ROBO2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ROBO2_HUMAN- 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. {ECO:0000269 PubMed:17357069}. 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.
Additional Disease Information for ROBO2
- 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 ROBO2 Gene
Publications for ROBO2 Gene
- Roundabout controls axon crossing of the CNS midline and defines a novel subfamily of evolutionarily conserved guidance receptors. (PMID: 9458045) Kidd T … Tear G (Cell 1998) 2 3 4
- Whole-genome linkage and association scan in primary, nonsyndromic vesicoureteric reflux. (PMID: 19959718) Cordell HJ … UK VUR Study Group (Journal of the American Society of Nephrology : JASN 2010) 3 41
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 41
- In search of genes associated with risk for psychopathic tendencies in children: a two-stage genome-wide association study of pooled DNA. (PMID: 20345837) Viding E … Plomin R (Journal of child psychology and psychiatry, and allied disciplines 2010) 3 41
ExternalLinks
Products for ROBO2 Gene
- View all 12 R&D Systems ROBO2 (ROBO2) Products
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- antibodies-online: Show 9 available ROBO2 Antibodies ranked by validation data
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Sources for ROBO2 Gene
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