• Gene id: 6092

Gene Summary

• Gene Symbol: ROBO2   Gene   UCSC   Ensembl
• Aliases: SAX3
• Gene name: roundabout guidance receptor 2
• Alternate names: roundabout homolog 2, roundabout, axon guidance receptor, homolog 2,
• Gene location: 3p12.3 (75906674: 77649963)     Exons: 34     NC_000003.12
• Gene summary(Entrez): 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 ax
• OMIM: 602431

Protein Summary

• Protein general information: Q9HCK4  
  • Name: Roundabout homolog 2
  • Length: 1378  
  • Mass: 151200
• Sequence:

  MSLLMFTQLLLCGFLYVRVDGSRLRQEDFPPRIVEHPSDVIVSKGEPTTLNCKAEGRPTPTIEWYKDGERVETDK
  DDPRSHRMLLPSGSLFFLRIVHGRRSKPDEGSYVCVARNYLGEAVSRNASLEVALLRDDFRQNPTDVVVAAGEPA
  ILECQPPRGHPEPTIYWKKDKVRIDDKEERISIRGGKLMISNTRKSDAGMYTCVGTNMVGERDSDPAELTVFERP
  TFLRRPINQVVLEEEAVEFRCQVQGDPQPTVRWKKDDADLPRGRYDIKDDYTLRIKKTMSTDEGTYMCIAENRVG
  KMEASATLTVRAPPQFVVRPRDQIVAQGRTVTFPCETKGNPQPAVFWQKEGSQNLLFPNQPQQPNSRCSVSPTGD
  LTITNIQRSDAGYYICQALTVAGSILAKAQLEVTDVLTDRPPPIILQGPANQTLAVDGTALLKCKATGDPLPVIS
  WLKEGFTFPGRDPRATIQEQGTLQIKNLRISDTGTYTCVATSSSGETSWSAVLDVTESGATISKNYDLSDLPGPP
  SKPQVTDVTKNSVTLSWQPGTPGTLPASAYIIEAFSQSVSNSWQTVANHVKTTLYTVRGLRPNTIYLFMVRAINP
  QGLSDPSPMSDPVRTQDISPPAQGVDHRQVQKELGDVLVRLHNPVVLTPTTVQVTWTVDRQPQFIQGYRVMYRQT
  SGLQATSSWQNLDAKVPTERSAVLVNLKKGVTYEIKVRPYFNEFQGMDSESKTVRTTEEAPSAPPQSVTVLTVGS
  YNSTSISVSWDPPPPDHQNGIIQEYKIWCLGNETRFHINKTVDAAIRSVIIGGLFPGIQYRVEVAASTSAGVGVK
  SEPQPIIIGRRNEVVITENNNSITEQITDVVKQPAFIAGIGGACWVILMGFSIWLYWRRKKRKGLSNYAVTFQRG
  DGGLMSNGSRPGLLNAGDPSYPWLADSWPATSLPVNNSNSGPNEIGNFGRGDVLPPVPGQGDKTATMLSDGAIYS
  SIDFTTKTSYNSSSQITQATPYATTQILHSNSIHELAVDLPDPQWKSSIQQKTDLMGFGYSLPDQNKGNNGGKGG
  KKKKNKNSSKPQKNNGSTWANVPLPPPPVQPLPGTELEHYAVEQQENGYDSDSWCPPLPVQTYLHQGLEDELEED
  DDRVPTPPVRGVASSPAISFGQQSTATLTPSPREEMQPMLQAHLDELTRAYQFDIAKQTWHIQSNNQPPQPPVPP
  LGYVSGALISDLETDVADDDADDEEEALEIPRPLRALDQTPGSSMDNLDSSVTGKAFTSSQRPRPTSPFSTDSNT
  SAALSQSQRPRPTKKHKGGRMDQQPALPHRREGMTDEEALVPYSKPSFPSPGGHSSSGTASSKGSTGPRKTEVLR
  AGHQRNASDLLDIGYMGSNSQGQFTGEL

• Structural information:
  • Protein Domains: (31..12-)
    1 (/note="Ig-like-C2-type)
    (133..22-)
    2 (/note="Ig-like-C2-type)
    (225..30-)
    3 (/note="Ig-like-C2-type)
    (314..40-)
    4 (/note="Ig-like-C2-type)
    (418..50-)
    5 (/note="Ig-like-C2-type)
    (524..61-)
    (/note="Fibron-)
  • Interpro: IPR003961  IPR036116  IPR007110  IPR036179  IPR013783   IPR013098  IPR003599  IPR003598  IPR013106  
  • Prosite: PS50853 PS50835
  • CDD: cd00063
  • PDB: 1UEM 1UJT 2EDJ 5NOI 6I9S 6IAA
  • PDBsum: 1UEM 1UJT 2EDJ 5NOI 6I9S 6IAA
  • STRING: ENSP00000417335
• Other Databases: GeneCards:  ROBO2  Malacards:  ROBO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030154	cell differentiation	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006935	chemotaxis	IEA	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007411	axon guidance	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0021510	spinal cord development	IEA	biological process
GO:0008046	axon guidance receptor activity	IEA	molecular function
GO:0007420	brain development	IEA	biological process
GO:0007411	axon guidance	IEA	biological process
GO:0003148	outflow tract septum morphogenesis	ISS	biological process
GO:0035481	positive regulation of Notch signaling pathway involved in heart induction	ISS	biological process
GO:0003180	aortic valve morphogenesis	ISS	biological process
GO:0035904	aorta development	ISS	biological process
GO:0003272	endocardial cushion formation	ISS	biological process
GO:0003184	pulmonary valve morphogenesis	ISS	biological process
GO:0060412	ventricular septum morphogenesis	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0050925	negative regulation of negative chemotaxis	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0050772	positive regulation of axonogenesis	IDA	biological process
GO:0042802	identical protein binding	IDA	molecular function
GO:0007156	homophilic cell adhesion via plasma membrane adhesion molecules	IDA	biological process
GO:0032870	cellular response to hormone stimulus	IEP	biological process
GO:0008046	axon guidance receptor activity	NAS	molecular function
GO:0008046	axon guidance receptor activity	ISS	molecular function
GO:0007420	brain development	IEP	biological process
GO:0007411	axon guidance	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051964	negative regulation of synapse assembly	ISS	biological process
GO:0031290	retinal ganglion cell axon guidance	ISS	biological process
GO:0030673	axolemma	ISS	cellular component
GO:0007417	central nervous system development	NAS	biological process
GO:0001656	metanephros development	ISS	biological process
GO:0061364	apoptotic process involved in luteolysis	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0021891	olfactory bulb interneuron development	ISS	biological process
GO:0016199	axon midline choice point recognition	ISS	biological process
GO:0001657	ureteric bud development	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04360	Axon guidance

Diseases

Associated diseases	References
Vesicoureteral reflux	KEGG:H01037
Vesicoureteral reflux	KEGG:H01037
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R