Entity Details

Primary name ROBO2_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9HCK4
EntryNameROBO2_HUMAN
FullNameRoundabout homolog 2
TaxID9606
Evidenceevidence at protein level
Length1378
SequenceStatuscomplete
DateCreated2004-06-21
DateModified2021-06-02

Ontological Relatives

GenesROBO2

GO terms

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GOName
GO:0001656 metanephros development
GO:0001657 ureteric bud development
GO:0003148 outflow tract septum morphogenesis
GO:0003180 aortic valve morphogenesis
GO:0003184 pulmonary valve morphogenesis
GO:0003272 endocardial cushion formation
GO:0005886 plasma membrane
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules
GO:0007411 axon guidance
GO:0007417 central nervous system development
GO:0007420 brain development
GO:0008046 axon guidance receptor activity
GO:0009986 cell surface
GO:0016021 integral component of membrane
GO:0016199 axon midline choice point recognition
GO:0021891 olfactory bulb interneuron development
GO:0030673 axolemma
GO:0031290 retinal ganglion cell axon guidance
GO:0032870 cellular response to hormone stimulus
GO:0035481 positive regulation of Notch signaling pathway involved in heart induction
GO:0035904 aorta development
GO:0042802 identical protein binding
GO:0050772 positive regulation of axonogenesis
GO:0050925 negative regulation of negative chemotaxis
GO:0051964 negative regulation of synapse assembly
GO:0060412 ventricular septum morphogenesis
GO:0061364 apoptotic process involved in luteolysis
GO:0070062 extracellular exosome

Subcellular Location

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Subcellular Location
Membrane

Domains

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DomainNameCategoryType
IPR003598 Immunoglobulin subtype 2DomainDomain
IPR003599 Immunoglobulin subtypeDomainDomain
IPR003961 Fibronectin type IIIDomainDomain
IPR007110 Immunoglobulin-like domainDomainDomain
IPR013098 Immunoglobulin I-setDomainDomain
IPR013106 Immunoglobulin V-set domainDomainDomain
IPR013783 Immunoglobulin-like foldFamilyHomologous superfamily
IPR036116 Fibronectin type III superfamilyFamilyHomologous superfamily
IPR036179 Immunoglobulin-like domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
610878 OMIMVesicoureteral reflux 2 (VUR2)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. The disease is caused by variants affecting the gene represented in this entry.