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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 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]
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.
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 |
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 |
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 | -- |
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
|
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 | -- |
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
vesicoureteral reflux 2 |
|
|
familial vesicoureteral reflux |
|
|
renal hypoplasia |
|
|
papillorenal syndrome |
|
|
vesicoureteral reflux 1 |
|
|