Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	6092
Gene name	Roundabout guidance receptor 2
Gene symbol	ROBO2
Synonyms (NCBI Gene)	SAX3
Chromosome	3
Chromosome location	3p12.3
Summary	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

Show/Hide all (3)

SNP ID	Visualize variation	Clinical significance	Consequence
rs267607014	T>C	Pathogenic	Coding sequence variant, missense variant
rs267607015	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs754279676	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant

Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005809	hsa-miR-145-5p	In situ hybridizationLuciferase reporter assayqRT-PCRwestern blot	21276775
MIRT005809	hsa-miR-145-5p	Reporter assay	21276775
MIRT038206	hsa-miR-342-5p	CLASH	23622248
MIRT541770	hsa-miR-8084	PAR-CLIP	21572407
MIRT541769	hsa-miR-4731-3p	PAR-CLIP	21572407
MIRT541768	hsa-miR-4801	PAR-CLIP	21572407
MIRT541767	hsa-miR-6844	PAR-CLIP	21572407
MIRT541766	hsa-miR-514a-3p	PAR-CLIP	21572407
MIRT541765	hsa-miR-514b-3p	PAR-CLIP	21572407
MIRT541770	hsa-miR-8084	PAR-CLIP	21572407
MIRT541769	hsa-miR-4731-3p	PAR-CLIP	21572407
MIRT541768	hsa-miR-4801	PAR-CLIP	21572407
MIRT541767	hsa-miR-6844	PAR-CLIP	21572407
MIRT541766	hsa-miR-514a-3p	PAR-CLIP	21572407
MIRT541765	hsa-miR-514b-3p	PAR-CLIP	21572407
MIRT1314590	hsa-miR-1305	CLIP-seq
MIRT1314591	hsa-miR-205	CLIP-seq
MIRT1314592	hsa-miR-2278	CLIP-seq
MIRT1314593	hsa-miR-23a	CLIP-seq
MIRT1314594	hsa-miR-23b	CLIP-seq
MIRT1314595	hsa-miR-23c	CLIP-seq
MIRT1314596	hsa-miR-297	CLIP-seq
MIRT1314597	hsa-miR-3149	CLIP-seq
MIRT1314598	hsa-miR-338-5p	CLIP-seq
MIRT1314599	hsa-miR-33a	CLIP-seq
MIRT1314600	hsa-miR-33b	CLIP-seq
MIRT1314601	hsa-miR-380	CLIP-seq
MIRT1314602	hsa-miR-4279	CLIP-seq
MIRT1314603	hsa-miR-4682	CLIP-seq
MIRT1314604	hsa-miR-4711-3p	CLIP-seq
MIRT1314605	hsa-miR-4720-5p	CLIP-seq
MIRT1314606	hsa-miR-4799-3p	CLIP-seq
MIRT1314607	hsa-miR-511	CLIP-seq
MIRT1314608	hsa-miR-513a-3p	CLIP-seq
MIRT1314609	hsa-miR-567	CLIP-seq
MIRT1314610	hsa-miR-582-5p	CLIP-seq
MIRT1314611	hsa-miR-587	CLIP-seq
MIRT1314612	hsa-miR-646	CLIP-seq
MIRT1314613	hsa-miR-654-3p	CLIP-seq
MIRT1314614	hsa-miR-155	CLIP-seq
MIRT1314615	hsa-miR-208a	CLIP-seq
MIRT1314616	hsa-miR-208b	CLIP-seq
MIRT1314617	hsa-miR-4432	CLIP-seq
MIRT1314618	hsa-miR-448	CLIP-seq
MIRT1314619	hsa-miR-499-5p	CLIP-seq
MIRT1314620	hsa-miR-622	CLIP-seq
MIRT2093556	hsa-miR-1911	CLIP-seq
MIRT2093557	hsa-miR-4474-3p	CLIP-seq
MIRT2093558	hsa-miR-4762-3p	CLIP-seq
MIRT2093559	hsa-miR-580	CLIP-seq
MIRT1314618	hsa-miR-448	CLIP-seq
MIRT2318092	hsa-miR-1267	CLIP-seq
MIRT2318093	hsa-miR-141	CLIP-seq
MIRT2318094	hsa-miR-200a	CLIP-seq
MIRT1314597	hsa-miR-3149	CLIP-seq
MIRT2318095	hsa-miR-345	CLIP-seq
MIRT2318096	hsa-miR-3913-3p	CLIP-seq
MIRT2318097	hsa-miR-4652-3p	CLIP-seq
MIRT2318098	hsa-miR-489	CLIP-seq
MIRT2318099	hsa-miR-514	CLIP-seq
MIRT2393856	hsa-miR-3688-3p	CLIP-seq
MIRT1314602	hsa-miR-4279	CLIP-seq
MIRT1314608	hsa-miR-513a-3p	CLIP-seq
MIRT2093556	hsa-miR-1911	CLIP-seq
MIRT2458501	hsa-miR-4539	CLIP-seq
MIRT2458502	hsa-miR-4724-5p	CLIP-seq
MIRT2093556	hsa-miR-1911	CLIP-seq
MIRT2458501	hsa-miR-4539	CLIP-seq
MIRT2458502	hsa-miR-4724-5p	CLIP-seq

Show/Hide all (40)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001656	Process	Metanephros development	ISS
GO:0001657	Process	Ureteric bud development	IMP	17357069
GO:0003129	Process	Heart induction	ISS
GO:0003148	Process	Outflow tract septum morphogenesis	ISS
GO:0003180	Process	Aortic valve morphogenesis	ISS
GO:0003184	Process	Pulmonary valve morphogenesis	ISS
GO:0003272	Process	Endocardial cushion formation	ISS
GO:0005515	Function	Protein binding	IPI	12504588, 15207848, 32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0006935	Process	Chemotaxis	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IDA	12504588
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007417	Process	Central nervous system development	NAS	9458045
GO:0007420	Process	Brain development	IEA
GO:0007420	Process	Brain development	IEP	10197527
GO:0008046	Function	Axon guidance receptor activity	ISS
GO:0008046	Function	Axon guidance receptor activity	NAS	9458045
GO:0009986	Component	Cell surface	IDA	12504588
GO:0016020	Component	Membrane	IEA
GO:0016199	Process	Axon midline choice point recognition	ISS
GO:0021891	Process	Olfactory bulb interneuron development	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030673	Component	Axolemma	ISS
GO:0031290	Process	Retinal ganglion cell axon guidance	ISS
GO:0032870	Process	Cellular response to hormone stimulus	IEP	18566128
GO:0035295	Process	Tube development	IEA
GO:0035904	Process	Aorta development	ISS
GO:0042802	Function	Identical protein binding	IDA	12504588
GO:0045747	Process	Positive regulation of Notch signaling pathway	ISS
GO:0050772	Process	Positive regulation of axonogenesis	IDA	12504588
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0050925	Process	Negative regulation of negative chemotaxis	IDA	11748139
GO:0050925	Process	Negative regulation of negative chemotaxis	IEA
GO:0051964	Process	Negative regulation of synapse assembly	ISS
GO:0060412	Process	Ventricular septum morphogenesis	ISS
GO:0061364	Process	Apoptotic process involved in luteolysis	IEP	18566128
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0098609	Process	Cell-cell adhesion	IBA

MIM	HGNC	e!Ensembl
602431	10250	ENSG00000185008

Q9HCK4

Protein name

Roundabout homolog 2

Protein function

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

PDB

1UEM , 1UJT , 2EDJ , 5NOI , 6I9S , 6IAA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13927	Ig_3	30 → 114		Domain
PF07679	I-set	133 → 221	Immunoglobulin I-set domain	Domain
PF07679	I-set	225 → 310	Immunoglobulin I-set domain	Domain
PF07679	I-set	314 → 408	Immunoglobulin I-set domain	Domain
PF07679	I-set	418 → 505	Immunoglobulin I-set domain	Domain
PF00041	fn3	523 → 607	Fibronectin type III domain	Domain
PF00041	fn3	640 → 724	Fibronectin type III domain	Domain
PF00041	fn3	738 → 826	Fibronectin type III domain	Domain

Sequence

MSLLMFTQLLLCGFLYVRVDGSRLRQEDFPPRIVEHPSDVIVSKGEPTTLNCKAEGRPTP
TIEWYKDGERVETDKDDPRSHRMLLPSGSLFFLRIVHGRRSKPDEGSYVCVARNYLGEAV
SRNASLEVALLRDDFRQNPTDVVVAAGEPAILECQPPRGHPEPTIYWKKDKVRIDDKEER
ISIRGGKLMISNTRKSDAGMYTCVGTNMVGERDSDPAELTVFERPTFLRRPINQVVLEEE
AVEFRCQVQGDPQPTVRWKKDDADLPRGRYDIKDDYTLRIKKTMSTDEGTYMCIAENRVG
KMEASATLTVRAPPQFVVRPRDQIVAQGRTVTFPCETKGNPQPAVFWQKEGSQNLLFPNQ
PQQPNSRCSVSPTGDLTITNIQRSDAGYYICQALTVAGSILAKAQLEVTDVLTDRPPPII
LQGPANQTLAVDGTALLKCKATGDPLPVISWLKEGFTFPGRDPRATIQEQGTLQIKNLRI
SDTGTYTCVATSSSGETSWSAVLDVTESGATISKNYDLSDLPGPPSKPQVTDVTKNSVTL
SWQPGTPGTLPASAYIIEAFSQSVSNSWQTVANHVKTTLYTVRGLRPNTIYLFMVRAINP
QGLSDPSPMSDPVRTQDISPPAQGVDHRQVQKELGDVLVRLHNPVVLTPTTVQVTWTVDR
QPQFIQGYRVMYRQTSGLQATSSWQNLDAKVPTERSAVLVNLKKGVTYEIKVRPYFNEFQ
GMDSESKTVRTTEEAPSAPPQSVTVLTVGSYNSTSISVSWDPPPPDHQNGIIQEYKIWCL
GNETRFHINKTVDAAIRSVIIGGLFPGIQYRVEVAASTSAGVGVKSEPQPIIIGRRNEVV
ITENNNSITEQITDVVKQPAFIAGIGGACWVILMGFSIWLYWRRKKRKGLSNYAVTFQRG
DGGLMSNGSRPGLLNAGDPSYPWLADSWPATSLPVNNSNSGPNEIGNFGRGDVLPPVPGQ
GDKTATMLSDGAIYSSIDFTTKTSYNSSSQITQATPYATTQILHSNSIHELAVDLPDPQW
KSSIQQKTDLMGFGYSLPDQNKGNNGGKGGKKKKNKNSSKPQKNNGSTWANVPLPPPPVQ
PLPGTELEHYAVEQQENGYDSDSWCPPLPVQTYLHQGLEDELEEDDDRVPTPPVRGVASS
PAISFGQQSTATLTPSPREEMQPMLQAHLDELTRAYQFDIAKQTWHIQSNNQPPQPPVPP
LGYVSGALISDLETDVADDDADDEEEALEIPRPLRALDQTPGSSMDNLDSSVTGKAFTSS
QRPRPTSPFSTDSNTSAALSQSQRPRPTKKHKGGRMDQQPALPHRREGMTDEEALVPYSK
PSFPSPGGHSSSGTASSKGSTGPRKTEVLRAGHQRNASDLLDIGYMGSNSQGQFTGEL

Sequence length

1378

Interactions

View interactions

	KEGG		Reactome
	Axon guidance		Signaling by ROBO receptors Regulation of commissural axon pathfinding by SLIT and ROBO

304

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign; Likely benign	rs184958084	RCV005897731
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	rs113680429	RCV005897727
Colon adenocarcinoma	Benign	rs143561771	RCV005897730
Congenital anomaly of kidney and urinary tract	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs267607014, rs267607015, rs780623744, rs188582283, rs80051448, rs754279676, rs201678507, rs759802937, rs763833545, rs772503893, rs2086360838, rs750974106, rs910956713, rs2071367863, rs986191822 View all (3 more)	RCV001290228 RCV001290231 RCV001290213 RCV001290229 RCV001290222 RCV001290210 RCV001290226 RCV001290227 RCV001328260 RCV001290211 RCV001290212 RCV001290219 RCV001290220 RCV001290221 RCV001290223 RCV001290224 RCV001290225 RCV001290230
Familial cancer of breast	Benign	rs3796291	RCV005918636
Gastric cancer	Benign	rs146036715	RCV005897729
Hepatocellular carcinoma	Benign	rs3796291	RCV005918637
Lung cancer	Benign	rs200430970	RCV005897728
Malignant lymphoma, large B-cell, diffuse	Benign	rs3796291	RCV005918638
Malignant tumor of esophagus	Benign	rs1031376	RCV005915906
ROBO2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs183858273, rs201531318, rs201356083, rs377172589, rs2549100880, rs766728789, rs184080216, rs2093382186, rs1316081689, rs200834587, rs758463590, rs746150931, rs202151263, rs144780438, rs200131009 View all (28 more)	RCV003933402 RCV003978738 RCV004753626 RCV004753638 RCV004731277 RCV003963392 RCV003936428 RCV003984340 RCV003396853 RCV003963774 RCV003419032 RCV003410794 RCV003946687 RCV003932406 RCV004752869 RCV003957794 RCV003969999 RCV003922522 RCV004752868 RCV003972466 RCV003956514 RCV003896470 RCV003912327 RCV003901637 RCV003912176 RCV003982326 RCV003934037 RCV003941941 RCV003961747 RCV003927042 RCV003927234 RCV003941596 RCV003931964 RCV003974761 RCV003982022 RCV003954865 RCV003983146 RCV003965298 RCV004753075 RCV003950392 RCV004753161 RCV003953524 RCV003898142
Sarcoma	Benign	rs113680429	RCV005897726
Thymoma	Benign	rs1031376	RCV005915908
Uterine carcinosarcoma	Benign	rs1031376	RCV005915907
Vesicoureteral reflux	Benign; Likely benign; Uncertain significance	rs78824327, rs530776423, rs372550683, rs566529890, rs766386654, rs886058890, rs548297436, rs10865561	RCV000343722 RCV000329230 RCV000363949 RCV000390154 RCV000302698 RCV000408313 RCV000392233 RCV000316645
Vesicoureteral reflux 2	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	rs138700841, rs201250546, rs780171319, rs2093385370, rs762759644, rs1339492985, rs1268364860, rs183858273, rs201531318, rs201356083, rs372105678, rs376267133, rs2549100880, rs768561235, rs2548819984 View all (180 more)	RCV001335997 RCV002493829 RCV005038229 RCV001728023 RCV002496072 RCV005023365 RCV002479713 RCV002507977 RCV002500055 RCV005034696 RCV005034699 RCV005399122 RCV005025843 RCV005025860 RCV005027979 RCV005028059 RCV000007521 RCV000007522 RCV005028363 RCV000416580 RCV000416566 RCV000416589 RCV000490492 RCV005028398 RCV005036640 RCV003135785 RCV005029930 RCV005029952 RCV005029993 RCV005030004 RCV005030026 RCV000271305 RCV000281723 RCV000334454 RCV000987293 RCV000365163 RCV000276390 RCV000294238 RCV000318803 RCV000340101 RCV000309860 RCV000313014 RCV000277698 RCV000314088 RCV000260016 RCV000319717 RCV000379975 RCV000380987 RCV000291501 RCV000346449 RCV000401363 RCV000298095 RCV000264263 RCV000295503 RCV000398261 RCV000337710 RCV000274210 RCV000316470 RCV000286992 RCV000310043 RCV000370784 RCV000355859 RCV000406216 RCV000381221 RCV000292144 RCV000398329 RCV000361791 RCV000303454 RCV000334170 RCV000279187 RCV000336479 RCV000282772 RCV000354777 RCV000265792 RCV000320970 RCV000345091 RCV000353025 RCV000263152 RCV000323364 RCV000269497 RCV000389493 RCV000282503 RCV000408309 RCV000362033 RCV000307450 RCV000368875 RCV000340716 RCV000392226 RCV000311357 RCV000407159 RCV000312864 RCV000267905 RCV000320759 RCV000359198 RCV000328992 RCV000289060 RCV000367636 RCV000352513 RCV000297541 RCV000285472 RCV000311431 RCV000354710 RCV000351774 RCV000332389 RCV000388877 RCV000359004 RCV000364106 RCV000293951 RCV000349529 RCV000391813 RCV000404421 RCV000272802 RCV000330243 RCV000336408 RCV000362198 RCV000325491 RCV000328250 RCV000279974 RCV000375684 RCV000386371 RCV000280990 RCV000345159 RCV000364754 RCV000379409 RCV000392320 RCV000392329 RCV000374330 RCV000393821 RCV000299560 RCV000383624 RCV000273203 RCV000334017 RCV000388451 RCV005030169 RCV005030285 RCV005038621 RCV002483684 RCV000604276 RCV000611343 RCV005036115 RCV002489378 RCV002502724 RCV002488005 RCV005029558 RCV001144366 RCV001146269 RCV001146270 RCV001146271 RCV001146272 RCV001149060 RCV001149061 RCV001149062 RCV001150567 RCV001150568 RCV001150569 RCV001150570 RCV001144479 RCV001144480 RCV001146400 RCV001146401 RCV001146402 RCV001146403 RCV001149179 RCV001149180 RCV001150690 RCV001150691 RCV001150692 RCV001150693 RCV001144595 RCV001144596 RCV001146529 RCV001146530 RCV001149294 RCV001149295 RCV001149296 RCV001150789 RCV001144680 RCV001144681 RCV001146642 RCV001146643 RCV001147553 RCV001147554 RCV001147555 RCV001150879 RCV001150880 RCV001150881 RCV001144779 RCV001146743 RCV001146744 RCV001146745 RCV001146746 RCV001147641 RCV001147642 RCV001147643 RCV001197938 RCV002499462 RCV005029858 RCV003991042

Show/Hide Text Mining Associations (44)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Aphasia	Associate	38181310
Attention Deficit Disorder with Hyperactivity	Associate	17010153
Auditory Perceptual Disorders	Associate	17010153
Autistic Disorder	Associate	25226531
Cakut	Associate	18235093, 24429398
Carcinogenesis	Associate	22719878, 22968929, 27461616
Carcinoma Hepatocellular	Associate	19114000, 38297025
Cardiomyopathies	Associate	36508697
Cholangiocarcinoma	Associate	27009864, 33468537
Colorectal Neoplasms	Associate	22968929
Congenital Abnormalities	Associate	32041992
Congenital Microtia	Associate	35584116
Depressive Disorder	Associate	32681239
Developmental Disabilities	Associate	32973238
Diabetic Nephropathies	Associate	20634963
Disruptive Impulse Control and Conduct Disorders	Associate	17010153
Dyslexia	Associate	25226531
Hairy Ears	Associate	35584116
Heart Failure	Associate	36508697
Idiopathic Pulmonary Fibrosis	Associate	31640794
Kidney Diseases	Associate	20634963
Leukemia Myeloid Acute	Associate	28220884, 30820596
Leukemia T Cell	Associate	26608094
Liver Cirrhosis	Associate	38297025
Lymphoma Large B Cell Diffuse	Associate	23531283
Motor Disorders	Associate	38181310
Mouth Diseases	Associate	22719878
Myelodysplastic Syndromes	Associate	26608094
Neoplasm Invasiveness	Associate	22719878
Neoplasms	Associate	22719878, 33810183, 36011316, 36508697, 38297025
Neoplasms	Inhibit	23531283, 24272677
Ovarian Neoplasms	Inhibit	22132142
Pain	Associate	32681239
Pancreatic Neoplasms	Associate	38297025
Periodontitis	Associate	34732256
Prostatic Neoplasms	Associate	24272677
Speech Sound Disorder	Associate	25226531
Stomach Neoplasms	Associate	27461616
Thalamic Diseases	Associate	38382530
Urinary Bladder Neoplasms	Associate	38073378
Uterine Cervical Diseases	Associate	22719878
Uterine Cervical Dysplasia	Associate	22719878
Uterine Cervical Neoplasms	Associate	36011316
Vesico Ureteral Reflux	Associate	15829711, 18235093, 22558067, 23536131, 32041992

ROBO2 (roundabout guidance receptor 2)