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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54538
Gene name	Roundabout guidance receptor 4
Gene symbol	ROBO4
Synonyms (NCBI Gene)	AOVD3ECSM4MRB
Chromosome	11
Chromosome location	11q24.2

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs764038221	C>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs1565322176	GC>AG	Likely-pathogenic	Coding sequence variant, missense variant, intron variant

Show/Hide all (58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017942	hsa-miR-335-5p	Microarray	18185580
MIRT723779	hsa-miR-6074	HITS-CLIP	19536157
MIRT723778	hsa-miR-4778-5p	HITS-CLIP	19536157
MIRT723777	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT723776	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT723774	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT723775	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT723773	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT723772	hsa-miR-938	HITS-CLIP	19536157
MIRT723771	hsa-miR-6886-3p	HITS-CLIP	19536157
MIRT723770	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT723769	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT569896	hsa-miR-6805-5p	PAR-CLIP	20371350
MIRT569897	hsa-miR-6761-5p	PAR-CLIP	20371350
MIRT569895	hsa-miR-3928-5p	PAR-CLIP	20371350
MIRT569894	hsa-miR-6806-3p	PAR-CLIP	20371350
MIRT569893	hsa-miR-4448	PAR-CLIP	20371350
MIRT569892	hsa-miR-4283	PAR-CLIP	20371350
MIRT569891	hsa-miR-6846-5p	PAR-CLIP	20371350
MIRT569890	hsa-miR-6848-5p	PAR-CLIP	20371350
MIRT569895	hsa-miR-3928-5p	PAR-CLIP	26701625
MIRT569892	hsa-miR-4283	PAR-CLIP	26701625
MIRT569893	hsa-miR-4448	PAR-CLIP	26701625
MIRT569897	hsa-miR-6761-5p	PAR-CLIP	26701625
MIRT569896	hsa-miR-6805-5p	PAR-CLIP	26701625
MIRT569894	hsa-miR-6806-3p	PAR-CLIP	26701625
MIRT569891	hsa-miR-6846-5p	PAR-CLIP	26701625
MIRT569890	hsa-miR-6848-5p	PAR-CLIP	26701625
MIRT723779	hsa-miR-6074	HITS-CLIP	19536157
MIRT723778	hsa-miR-4778-5p	HITS-CLIP	19536157
MIRT723777	hsa-miR-6801-3p	HITS-CLIP	19536157
MIRT723776	hsa-miR-6810-3p	HITS-CLIP	19536157
MIRT723774	hsa-miR-6752-3p	HITS-CLIP	19536157
MIRT723775	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT723773	hsa-miR-18a-3p	HITS-CLIP	19536157
MIRT723772	hsa-miR-938	HITS-CLIP	19536157
MIRT723771	hsa-miR-6886-3p	HITS-CLIP	19536157
MIRT723770	hsa-miR-337-3p	HITS-CLIP	19536157
MIRT723769	hsa-miR-202-5p	HITS-CLIP	19536157
MIRT569896	hsa-miR-6805-5p	PAR-CLIP	20371350
MIRT569897	hsa-miR-6761-5p	PAR-CLIP	20371350
MIRT569895	hsa-miR-3928-5p	PAR-CLIP	20371350
MIRT569894	hsa-miR-6806-3p	PAR-CLIP	20371350
MIRT569893	hsa-miR-4448	PAR-CLIP	20371350
MIRT569892	hsa-miR-4283	PAR-CLIP	20371350
MIRT569891	hsa-miR-6846-5p	PAR-CLIP	20371350
MIRT569890	hsa-miR-6848-5p	PAR-CLIP	20371350
MIRT1314621	hsa-miR-140-3p	CLIP-seq
MIRT1314622	hsa-miR-329	CLIP-seq
MIRT1314623	hsa-miR-362-3p	CLIP-seq
MIRT1314624	hsa-miR-3667-5p	CLIP-seq
MIRT1314625	hsa-miR-4690-3p	CLIP-seq
MIRT1314626	hsa-miR-584	CLIP-seq
MIRT2093560	hsa-miR-3929	CLIP-seq
MIRT2093561	hsa-miR-4419b	CLIP-seq
MIRT2093562	hsa-miR-4478	CLIP-seq
MIRT2318100	hsa-miR-541	CLIP-seq
MIRT2318101	hsa-miR-654-5p	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001525	Process	Angiogenesis	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IBA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007411	Process	Axon guidance	IBA
GO:0009897	Component	External side of plasma membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	14527427
GO:0030154	Process	Cell differentiation	IEA
GO:0030334	Process	Regulation of cell migration	NAS	15894287
GO:0030424	Component	Axon	IBA
GO:0038023	Function	Signaling receptor activity	IEA
GO:0038023	Function	Signaling receptor activity	TAS	14527427
GO:0043534	Process	Blood vessel endothelial cell migration	IEA
GO:0043537	Process	Negative regulation of blood vessel endothelial cell migration	IEA
GO:0061028	Process	Establishment of endothelial barrier	IMP	30455415
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070593	Process	Dendrite self-avoidance	IBA
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA

MIM	HGNC	e!Ensembl
607528	17985	ENSG00000154133

Q8WZ75

Protein name

Roundabout homolog 4 (Magic roundabout)

Protein function

Receptor for Slit proteins, at least for SLIT2, and seems to be involved in angiogenesis and vascular patterning. May mediate the inhibition of primary endothelial cell migration by Slit proteins (By similarity). Involved in the maintenance of e

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13927	Ig_3	31 → 118		Domain
PF07679	I-set	137 → 224	Immunoglobulin I-set domain	Domain
PF00041	fn3	348 → 432	Fibronectin type III domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Specifically expressed in endothelial cells. Expressed in endothelial and intimal cells of the ascending aorta (PubMed:30455415). {ECO:0000269|PubMed:11944987, ECO:0000269|PubMed:30455415}.

Sequence

MGSGGDSLLGGRGSLPLLLLLIMGGMAQDSPPQILVHPQDQLFQGPGPARMSCQASGQPP
PTIRWLLNGQPLSMVPPDPHHLLPDGTLLLLQPPARGHAHDGQALSTDLGVYTCEASNRL
GTAVSRGARLSVAVLREDFQIQPRDMVAVVGEQFTLECGPPWGHPEPTVSWWKDGKPLAL
QPGRHTVSGGSLLMARAEKSDEGTYMCVATNSAGHRESRAARVSIQEPQDYTEPVELLAV
RIQLENVTLLNPDPAEGPKPRPAVWLSWKVSGPAAPAQSYTALFRTQTAPGGQGAPWAEE
LLAGWQSAELGGLHWGQDYEFKVRPSSGRARGPDSNVLLLRLPEKVPSAPPQEVTLKPGN
GTVFVSWVPPPAENHNGIIRGYQVWSLGNTSLPPANWTVVGEQTQLEIATHMPGSYCVQV
AAVTGAGAGEPSRPVCLLLEQAMERATQEPSEHGPWTLEQLRATLKRPEVIATCGVALWL
LLLGTAVCIHRRRRARVHLGPGLYRYTSEDAILKHRMDHSDSQWLADTWRSTSGSRDLSS
SSSLSSRLGADARDPLDCRRSLLSWDSRSPGVPLLPDTSTFYGSLIAELPSSTPARPSPQ
VPAVRRLPPQLAQLSSPCSSSDSLCSRRGLSSPRLSLAPAEAWKAKKKQELQHANSSPLL
RGSHSLELRACELGNRGSKNLSQSPGAVPQALVAWRALGPKLLSSSNELVTRHLPPAPLF
PHETPPTQSQQTQPPVAPQAPSSILLPAAPIPILSPCSPPSPQASSLSGPSPASSRLSSS
SLSSLGEDQDSVLTPEEVALCLELSEGEETPRNSVSPMPRAPSPPTTYGYISVPTASEFT
DMGRTGGGVGPKGGVLLCPPRPCLTPTPSEGSLANGWGSASEDNAASARASLVSSSDGSF
LADAHFARALAVAVDSFGFGLEPREADCVFIDASSPPSPRDEIFLTPNLSLPLWEWRPDW
LEDMEVSHTQRLGRGMPPWPPDSQISSQRSQLHCRMPKAGASPVDYS

Sequence length

1007

Interactions

View interactions

110

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Aortic valve disease 3	Likely pathogenic	rs2135378156, rs2497396246, rs764038221	RCV001808294 RCV003147905 RCV000787048
Ascending tubular aorta aneurysm	Likely pathogenic	rs1565322176, rs764038221, rs138111911, rs755569942, rs1565326476, rs755747435, rs779392207, rs138370967	RCV000754500 RCV000754502 RCV000754499 RCV000754503 RCV000754495 RCV000754498 RCV000754497 RCV000754493
Bicuspid aortic valve	Likely pathogenic	rs1565322176, rs764038221, rs138111911, rs755569942, rs1565326476, rs755747435, rs779392207, rs138370967	RCV000754500 RCV000754502 RCV000754499 RCV000754503 RCV000754495 RCV000754498 RCV000754497 RCV000754493
ROBO4-related disorder	Likely pathogenic	rs138370967	RCV004756008
Thoracic aortic aneurysm	Likely pathogenic	rs2135366023, rs776228672	RCV001751797 RCV001751798

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital diaphragmatic hernia	risk factor	rs756636036	RCV000577957
Familial thoracic aortic aneurysm and aortic dissection	Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance	rs59648931, rs145067866, rs143174483, rs370414211, rs140116969, rs145918924, rs143995311, rs146276743, rs767574908, rs7104934, rs112424754, rs12226461, rs4078313, rs55941905, rs757219027 View all (19 more)	RCV003485723 RCV003485724 RCV003485725 RCV003485824 RCV003485830 RCV003485945 RCV003485946 RCV003486408 RCV003486409 RCV003486410 RCV003486411 RCV003486412 RCV003486413 RCV003486414 RCV003486415 RCV003486416 RCV003486462 RCV003486463 RCV003486464 RCV003486465 RCV003486466 RCV003486467 RCV003486468 RCV003486469 RCV003486470 RCV003486471 RCV003485662 RCV003485665 RCV003485666 RCV003485667 RCV003485668 RCV003485669 RCV003485657 RCV003485659

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atherosclerosis	Associate	33495827
Bicuspid Aortic Valve Disease	Associate	32748548, 33631418, 36855159
Breast Neoplasms	Associate	21803008
Carcinoma Hepatocellular	Associate	19114000
Carcinoma Pancreatic Ductal	Associate	31956659
Glioma	Inhibit	25833462
Heart Defects Congenital	Associate	36855159
Hypoxia Brain	Associate	19495426
Leukemia	Associate	25794001
Leukemia Myeloid Acute	Associate	25794001
Lung Neoplasms	Associate	39595659
Neoplasms	Associate	25794001, 26956051, 30662335
Neurofibromatosis Noonan syndrome	Associate	36855159
Ovarian Neoplasms	Inhibit	22132142
Prostatic Neoplasms	Associate	30662335
Tetralogy of Fallot	Associate	36855159
Thyroid Neoplasms	Associate	32626543
Urinary Bladder Neoplasms	Associate	30019121

ROBO4 (roundabout guidance receptor 4)