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| | <StructureSection load='2edj' size='340' side='right'caption='[[2edj]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> | | <StructureSection load='2edj' size='340' side='right'caption='[[2edj]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''> |
| | == Structural highlights == | | == Structural highlights == |
| - | <table><tr><td colspan='2'>[[2edj]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EDJ OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2EDJ FirstGlance]. <br> | + | <table><tr><td colspan='2'>[[2edj]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2EDJ OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=2EDJ FirstGlance]. <br> |
| - | </td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2edj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2edj OCA], [http://pdbe.org/2edj PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2edj RCSB], [http://www.ebi.ac.uk/pdbsum/2edj PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2edj ProSAT], [http://www.topsan.org/Proteins/RSGI/2edj TOPSAN]</span></td></tr> | + | </td></tr><tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=2edj FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2edj OCA], [https://pdbe.org/2edj PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=2edj RCSB], [https://www.ebi.ac.uk/pdbsum/2edj PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=2edj ProSAT], [https://www.topsan.org/Proteins/RSGI/2edj TOPSAN]</span></td></tr> |
| | </table> | | </table> |
| | == Disease == | | == Disease == |
| - | [[http://www.uniprot.org/uniprot/ROBO2_HUMAN ROBO2_HUMAN]] Defects in ROBO2 are the cause of vesicoureteral reflux type 2 (VUR2) [MIM:[http://omim.org/entry/610878 610878]]. VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults.<ref>PMID:17357069</ref> 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. | + | [[https://www.uniprot.org/uniprot/ROBO2_HUMAN ROBO2_HUMAN]] Defects in ROBO2 are the cause of vesicoureteral reflux type 2 (VUR2) [MIM:[https://omim.org/entry/610878 610878]]. VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults.<ref>PMID:17357069</ref> 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. |
| | == Function == | | == Function == |
| - | [[http://www.uniprot.org/uniprot/ROBO2_HUMAN ROBO2_HUMAN]] 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. | + | [[https://www.uniprot.org/uniprot/ROBO2_HUMAN ROBO2_HUMAN]] 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. |
| | == Evolutionary Conservation == | | == Evolutionary Conservation == |
| | [[Image:Consurf_key_small.gif|200px|right]] | | [[Image:Consurf_key_small.gif|200px|right]] |
| Structural highlights
Disease
[ROBO2_HUMAN] Defects in ROBO2 are the cause of vesicoureteral reflux type 2 (VUR2) [MIM:610878]. VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults.[1] 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.
Function
[ROBO2_HUMAN] 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.
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
- ↑ Lu W, van Eerde AM, Fan X, Quintero-Rivera F, Kulkarni S, Ferguson H, Kim HG, Fan Y, Xi Q, Li QG, Sanlaville D, Andrews W, Sundaresan V, Bi W, Yan J, Giltay JC, Wijmenga C, de Jong TP, Feather SA, Woolf AS, Rao Y, Lupski JR, Eccles MR, Quade BJ, Gusella JF, Morton CC, Maas RL. Disruption of ROBO2 is associated with urinary tract anomalies and confers risk of vesicoureteral reflux. Am J Hum Genet. 2007 Apr;80(4):616-32. Epub 2007 Feb 14. PMID:17357069 doi:S0002-9297(07)61109-4
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