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UniProtKB - Q9HCK4 (ROBO2_HUMAN)

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Protein

Roundabout homolog 2

Gene

ROBO2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.

GO - Molecular functioni

  • axon guidance receptor activity Source: UniProtKB
  • identical protein binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionDevelopmental protein
Biological processChemotaxis, Differentiation, Neurogenesis

Enzyme and pathway databases

ReactomeiR-HSA-376176 Signaling by ROBO receptors
R-HSA-428542 Regulation of commissural axon pathfinding by SLIT and ROBO
R-HSA-8985801 Regulation of cortical dendrite branching
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-9010642 ROBO receptors bind AKAP5

Names & Taxonomyi

Protein namesi
Recommended name:
Roundabout homolog 2
Gene namesi
Name:ROBO2
Synonyms:KIAA1568
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000185008.17
HGNCiHGNC:10250 ROBO2
MIMi602431 gene
neXtProtiNX_Q9HCK4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Topological domaini22 – 859ExtracellularSequence analysisAdd BLAST838
Transmembranei860 – 880HelicalSequence analysisAdd BLAST21
Topological domaini881 – 1378CytoplasmicSequence analysisAdd BLAST498

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Vesicoureteral reflux 2 (VUR2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:610878
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032960945I → T in VUR2. 1 PublicationCorresponds to variant dbSNP:rs267607014EnsemblClinVar.1
Natural variantiVAR_0329611236A → T in VUR2. 1 PublicationCorresponds to variant dbSNP:rs267607015EnsemblClinVar.1
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.

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi6092
MalaCardsiROBO2
MIMi610878 phenotype
OpenTargetsiENSG00000185008
Orphaneti289365 Familial vesicoureteral reflux
PharmGKBiPA34621

Polymorphism and mutation databases

BioMutaiROBO2
DMDMi49036496

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 21Sequence analysisAdd BLAST21
ChainiPRO_000003103622 – 1378Roundabout homolog 2Add BLAST1357

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi52 ↔ 110PROSITE-ProRule annotation
Glycosylationi123N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi154 ↔ 203PROSITE-ProRule annotation
Disulfide bondi246 ↔ 293PROSITE-ProRule annotation
Disulfide bondi335 ↔ 391PROSITE-ProRule annotation
Glycosylationi426N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi439 ↔ 488PROSITE-ProRule annotation
Glycosylationi752N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi782N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi789N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi845N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1154PhosphothreonineBy similarity1
Modified residuei1156PhosphoserineBy similarity1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

EPDiQ9HCK4
MaxQBiQ9HCK4
PaxDbiQ9HCK4
PeptideAtlasiQ9HCK4
PRIDEiQ9HCK4
ProteomicsDBi81744
81745 [Q9HCK4-2]
81746 [Q9HCK4-3]

PTM databases

iPTMnetiQ9HCK4
PhosphoSitePlusiQ9HCK4

Expressioni

Gene expression databases

BgeeiENSG00000185008
CleanExiHS_ROBO2
ExpressionAtlasiQ9HCK4 baseline and differential
GenevisibleiQ9HCK4 HS

Organism-specific databases

HPAiHPA013371

Interactioni

Subunit structurei

Interacts with SLIT2.2 Publications

GO - Molecular functioni

  • identical protein binding Source: UniProtKB
View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi112019, 20 interactors
IntActiQ9HCK4, 28 interactors
MINTiQ9HCK4
STRINGi9606.ENSP00000417335

Structurei

Secondary structure

11378
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi312 – 318Combined sources7
Beta strandi323 – 326Combined sources4
Beta strandi331 – 333Combined sources3
Beta strandi336 – 341Combined sources6
Beta strandi345 – 349Combined sources5
Beta strandi367 – 370Combined sources4
Beta strandi376 – 378Combined sources3
Helixi383 – 385Combined sources3
Beta strandi387 – 394Combined sources8
Beta strandi399 – 409Combined sources11
Beta strandi419 – 422Combined sources4
Beta strandi427 – 430Combined sources4
Beta strandi434 – 437Combined sources4
Beta strandi440 – 442Combined sources3
Beta strandi448 – 453Combined sources6
Beta strandi456 – 458Combined sources3
Beta strandi464 – 467Combined sources4
Beta strandi469 – 471Combined sources3
Beta strandi473 – 477Combined sources5
Helixi480 – 482Combined sources3
Beta strandi484 – 492Combined sources9
Beta strandi495 – 508Combined sources14
Beta strandi529 – 533Combined sources5
Beta strandi538 – 541Combined sources4
Beta strandi548 – 550Combined sources3
Beta strandi554 – 561Combined sources8
Turni562 – 564Combined sources3
Beta strandi565 – 575Combined sources11
Beta strandi577 – 582Combined sources6
Beta strandi590 – 599Combined sources10
Beta strandi602 – 606Combined sources5
Helixi630 – 636Combined sources7
Beta strandi639 – 641Combined sources3
Beta strandi651 – 660Combined sources10
Beta strandi667 – 679Combined sources13
Turni680 – 682Combined sources3
Beta strandi685 – 688Combined sources4
Beta strandi696 – 701Combined sources6
Beta strandi704 – 718Combined sources15
Beta strandi727 – 731Combined sources5

3D structure databases

ProteinModelPortaliQ9HCK4
SMRiQ9HCK4
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9HCK4

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini31 – 127Ig-like C2-type 1Add BLAST97
Domaini133 – 220Ig-like C2-type 2Add BLAST88
Domaini225 – 309Ig-like C2-type 3Add BLAST85
Domaini314 – 409Ig-like C2-type 4Add BLAST96
Domaini418 – 504Ig-like C2-type 5Add BLAST87
Domaini524 – 618Fibronectin type-III 1PROSITE-ProRule annotationAdd BLAST95
Domaini637 – 735Fibronectin type-III 2PROSITE-ProRule annotationAdd BLAST99
Domaini739 – 836Fibronectin type-III 3PROSITE-ProRule annotationAdd BLAST98

Sequence similaritiesi

Belongs to the immunoglobulin superfamily. ROBO family.Curated

Keywords - Domaini

Immunoglobulin domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG4222 Eukaryota
ENOG410XPQS LUCA
GeneTreeiENSGT00910000144011
HOGENOMiHOG000010267
HOVERGENiHBG073476
InParanoidiQ9HCK4
KOiK06754
PhylomeDBiQ9HCK4
TreeFamiTF351053

Family and domain databases

CDDicd00063 FN3, 3 hits
Gene3Di2.60.40.10, 8 hits
InterProiView protein in InterPro
IPR003961 FN3_dom
IPR036116 FN3_sf
IPR007110 Ig-like_dom
IPR036179 Ig-like_dom_sf
IPR013783 Ig-like_fold
IPR013098 Ig_I-set
IPR003599 Ig_sub
IPR003598 Ig_sub2
IPR013106 Ig_V-set
IPR032985 Robo2
PANTHERiPTHR44096:SF2 PTHR44096:SF2, 3 hits
PfamiView protein in Pfam
PF00041 fn3, 3 hits
PF07679 I-set, 2 hits
SMARTiView protein in SMART
SM00060 FN3, 3 hits
SM00409 IG, 5 hits
SM00408 IGc2, 5 hits
SM00406 IGv, 3 hits
SUPFAMiSSF48726 SSF48726, 5 hits
SSF49265 SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853 FN3, 3 hits
PS50835 IG_LIKE, 5 hits

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9HCK4-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSLLMFTQLL LCGFLYVRVD GSRLRQEDFP PRIVEHPSDV IVSKGEPTTL 
        60         70         80         90        100
NCKAEGRPTP TIEWYKDGER VETDKDDPRS HRMLLPSGSL FFLRIVHGRR 
       110        120        130        140        150
SKPDEGSYVC VARNYLGEAV SRNASLEVAL LRDDFRQNPT DVVVAAGEPA 
       160        170        180        190        200
ILECQPPRGH PEPTIYWKKD KVRIDDKEER ISIRGGKLMI SNTRKSDAGM 
       210        220        230        240        250
YTCVGTNMVG ERDSDPAELT VFERPTFLRR PINQVVLEEE AVEFRCQVQG 
       260        270        280        290        300
DPQPTVRWKK DDADLPRGRY DIKDDYTLRI KKTMSTDEGT YMCIAENRVG 
       310        320        330        340        350
KMEASATLTV RAPPQFVVRP RDQIVAQGRT VTFPCETKGN PQPAVFWQKE 
       360        370        380        390        400
GSQNLLFPNQ PQQPNSRCSV SPTGDLTITN IQRSDAGYYI CQALTVAGSI 
       410        420        430        440        450
LAKAQLEVTD VLTDRPPPII LQGPANQTLA VDGTALLKCK ATGDPLPVIS 
       460        470        480        490        500
WLKEGFTFPG RDPRATIQEQ GTLQIKNLRI SDTGTYTCVA TSSSGETSWS 
       510        520        530        540        550
AVLDVTESGA TISKNYDLSD LPGPPSKPQV TDVTKNSVTL SWQPGTPGTL 
       560        570        580        590        600
PASAYIIEAF SQSVSNSWQT VANHVKTTLY TVRGLRPNTI YLFMVRAINP 
       610        620        630        640        650
QGLSDPSPMS DPVRTQDISP PAQGVDHRQV QKELGDVLVR LHNPVVLTPT 
       660        670        680        690        700
TVQVTWTVDR QPQFIQGYRV MYRQTSGLQA TSSWQNLDAK VPTERSAVLV 
       710        720        730        740        750
NLKKGVTYEI KVRPYFNEFQ GMDSESKTVR TTEEAPSAPP QSVTVLTVGS 
       760        770        780        790        800
YNSTSISVSW DPPPPDHQNG IIQEYKIWCL GNETRFHINK TVDAAIRSVI 
       810        820        830        840        850
IGGLFPGIQY RVEVAASTSA GVGVKSEPQP IIIGRRNEVV ITENNNSITE 
       860        870        880        890        900
QITDVVKQPA FIAGIGGACW VILMGFSIWL YWRRKKRKGL SNYAVTFQRG 
       910        920        930        940        950
DGGLMSNGSR PGLLNAGDPS YPWLADSWPA TSLPVNNSNS GPNEIGNFGR 
       960        970        980        990       1000
GDVLPPVPGQ GDKTATMLSD GAIYSSIDFT TKTSYNSSSQ ITQATPYATT 
      1010       1020       1030       1040       1050
QILHSNSIHE LAVDLPDPQW KSSIQQKTDL MGFGYSLPDQ NKGNNGGKGG 
      1060       1070       1080       1090       1100
KKKKNKNSSK PQKNNGSTWA NVPLPPPPVQ PLPGTELEHY AVEQQENGYD 
      1110       1120       1130       1140       1150
SDSWCPPLPV QTYLHQGLED ELEEDDDRVP TPPVRGVASS PAISFGQQST 
      1160       1170       1180       1190       1200
ATLTPSPREE MQPMLQAHLD ELTRAYQFDI AKQTWHIQSN NQPPQPPVPP 
      1210       1220       1230       1240       1250
LGYVSGALIS DLETDVADDD ADDEEEALEI PRPLRALDQT PGSSMDNLDS 
      1260       1270       1280       1290       1300
SVTGKAFTSS QRPRPTSPFS TDSNTSAALS QSQRPRPTKK HKGGRMDQQP 
      1310       1320       1330       1340       1350
ALPHRREGMT DEEALVPYSK PSFPSPGGHS SSGTASSKGS TGPRKTEVLR 
      1360       1370 
AGHQRNASDL LDIGYMGSNS QGQFTGEL
Length:1,378
Mass (Da):151,200
Last modified:June 21, 2004 - v2
Checksum:i60F7CE3E53622B50
GO
Isoform 2 (identifier: Q9HCK4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1186-1378: Missing.

Show »
Length:1,185
Mass (Da):130,669
Checksum:i5A6ABDBD4A2111A3
GO
Isoform 3 (identifier: Q9HCK4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-20: MSLLMFTQLLLCGFLYVRVD → MARRHERVTRRMWTWAPGLLMMTVVFWGHQGNGQGQ

Note: No experimental confirmation available.
Show »
Length:1,394
Mass (Da):153,120
Checksum:i860FFDE4892D51B7
GO

Sequence cautioni

The sequence AAC39576 differs from that shown. Reason: Frameshift at position 601.Curated
The sequence BAB13394 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti497T → A (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_032960945I → T in VUR2. 1 PublicationCorresponds to variant dbSNP:rs267607014EnsemblClinVar.1
Natural variantiVAR_0329611236A → T in VUR2. 1 PublicationCorresponds to variant dbSNP:rs267607015EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0433941 – 20MSLLM…YVRVD → MARRHERVTRRMWTWAPGLL MMTVVFWGHQGNGQGQ in isoform 3. 1 PublicationAdd BLAST20
Alternative sequenceiVSP_0106471186 – 1378Missing in isoform 2. 1 PublicationAdd BLAST193

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
DQ533874 mRNA Translation: ABF83431.1
AB046788 mRNA Translation: BAB13394.1 Different initiation.
DQ533873 mRNA Translation: ABF83430.1
AC016942 Genomic DNA No translation available.
AC016952 Genomic DNA No translation available.
AC024256 Genomic DNA No translation available.
AC026877 Genomic DNA No translation available.
AC067717 Genomic DNA No translation available.
AC117514 Genomic DNA No translation available.
AC117515 Genomic DNA No translation available.
AC117516 Genomic DNA No translation available.
AC126467 Genomic DNA No translation available.
AC130004 Genomic DNA No translation available.
AC131005 Genomic DNA No translation available.
AC131154 Genomic DNA No translation available.
AC133040 Genomic DNA No translation available.
AC138974 Genomic DNA No translation available.
BC064374 mRNA Translation: AAH64374.1
BC146772 mRNA Translation: AAI46773.1
AF040991 mRNA Translation: AAC39576.1 Frameshift.
CCDSiCCDS43109.1 [Q9HCK4-1]
CCDS54609.1 [Q9HCK4-3]
RefSeqiNP_001122401.1, NM_001128929.3 [Q9HCK4-3]
NP_001276968.1, NM_001290039.1
NP_001276969.1, NM_001290040.1
NP_001276994.1, NM_001290065.1
NP_002933.1, NM_002942.4 [Q9HCK4-1]
UniGeneiHs.13305

Genome annotation databases

EnsembliENST00000461745; ENSP00000417164; ENSG00000185008 [Q9HCK4-1]
ENST00000487694; ENSP00000417335; ENSG00000185008 [Q9HCK4-3]
GeneIDi6092
KEGGihsa:6092
UCSCiuc003dpy.5 human [Q9HCK4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Entry informationi

Entry nameiROBO2_HUMAN
AccessioniPrimary (citable) accession number: Q9HCK4
Secondary accession number(s): O43608, Q19AB4, Q19AB5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 21, 2004
Last sequence update: June 21, 2004
Last modified: July 18, 2018
This is version 166 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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