• Gene id: 54538

Gene Summary

• Gene Symbol: ROBO4   Gene   UCSC   Ensembl
• Aliases: AOVD3, ECSM4, MRB
• Gene name: roundabout guidance receptor 4
• Alternate names: roundabout homolog 4, roundabout homolog 4, magic roundabout, roundabout, axon guidance receptor, homolog 4,
• Gene location: 11q24.2 (124897864: 124883690)     Exons: 18     NC_000011.10
• OMIM: 607528

Protein Summary

• Protein general information: Q8WZ75  
  • Name: Roundabout homolog 4 (Magic roundabout)
  • Length: 1007  
  • Mass: 107457
  • Tissue specificity: Specifically expressed in endothelial cells. Expressed in endothelial and intimal cells of the ascending aorta (PubMed
• Sequence:

  MGSGGDSLLGGRGSLPLLLLLIMGGMAQDSPPQILVHPQDQLFQGPGPARMSCQASGQPPPTIRWLLNGQPLSMV
  PPDPHHLLPDGTLLLLQPPARGHAHDGQALSTDLGVYTCEASNRLGTAVSRGARLSVAVLREDFQIQPRDMVAVV
  GEQFTLECGPPWGHPEPTVSWWKDGKPLALQPGRHTVSGGSLLMARAEKSDEGTYMCVATNSAGHRESRAARVSI
  QEPQDYTEPVELLAVRIQLENVTLLNPDPAEGPKPRPAVWLSWKVSGPAAPAQSYTALFRTQTAPGGQGAPWAEE
  LLAGWQSAELGGLHWGQDYEFKVRPSSGRARGPDSNVLLLRLPEKVPSAPPQEVTLKPGNGTVFVSWVPPPAENH
  NGIIRGYQVWSLGNTSLPPANWTVVGEQTQLEIATHMPGSYCVQVAAVTGAGAGEPSRPVCLLLEQAMERATQEP
  SEHGPWTLEQLRATLKRPEVIATCGVALWLLLLGTAVCIHRRRRARVHLGPGLYRYTSEDAILKHRMDHSDSQWL
  ADTWRSTSGSRDLSSSSSLSSRLGADARDPLDCRRSLLSWDSRSPGVPLLPDTSTFYGSLIAELPSSTPARPSPQ
  VPAVRRLPPQLAQLSSPCSSSDSLCSRRGLSSPRLSLAPAEAWKAKKKQELQHANSSPLLRGSHSLELRACELGN
  RGSKNLSQSPGAVPQALVAWRALGPKLLSSSNELVTRHLPPAPLFPHETPPTQSQQTQPPVAPQAPSSILLPAAP
  IPILSPCSPPSPQASSLSGPSPASSRLSSSSLSSLGEDQDSVLTPEEVALCLELSEGEETPRNSVSPMPRAPSPP
  TTYGYISVPTASEFTDMGRTGGGVGPKGGVLLCPPRPCLTPTPSEGSLANGWGSASEDNAASARASLVSSSDGSF
  LADAHFARALAVAVDSFGFGLEPREADCVFIDASSPPSPRDEIFLTPNLSLPLWEWRPDWLEDMEVSHTQRLGRG
  MPPWPPDSQISSQRSQLHCRMPKAGASPVDYS

• Structural information:
  • Protein Domains: (32..13-)
    1 (/note="Ig-like-C2-type)
    (137..22-)
    2 (/note="Ig-like-C2-type)
    (248..34-)
    1 (/note="Fibronectin-type-III)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00316-)
    (347..44-)
    2 (/note="Fibronectin-type-III)
    (/evidence="ECO-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • STRING: ENSP00000304945
• Other Databases: GeneCards:  ROBO4  Malacards:  ROBO4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070593	dendrite self-avoidance	IBA	biological process
GO:0030424	axon	IBA	cellular component
GO:0098632	cell-cell adhesion mediator activity	IBA	molecular function
GO:0007411	axon guidance	IBA	biological process
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IBA	biological process
GO:0005886	plasma membrane	IBA	cellular component
GO:0061028	establishment of endothelial barrier	IMP	biological process
GO:0001525	angiogenesis	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016021	integral component of membrane	TAS	cellular component
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0030334	regulation of cell migration	NAS	biological process
GO:0001525	angiogenesis	IGI	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq