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	64221
Gene name	Roundabout guidance receptor 3
Gene symbol	ROBO3
Synonyms (NCBI Gene)	HGPPSHGPPS1HGPSRBIG1RIG1
Chromosome	11
Chromosome location	11q24.2
Summary	This gene is a member of the Roundabout (ROBO) gene family that controls neurite outgrowth, growth cone guidance, and axon fasciculation. ROBO proteins are a subfamily of the immunoglobulin transmembrane receptor superfamily. SLIT proteins 1-3, a family o

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121918270	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs121918271	G>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs121918272	T>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, upstream transcript variant
rs121918273	G>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs121918274	G>A,C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs121918275	T>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs121918276	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs121918278	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant
rs372821877	G>A	Pathogenic	Stop gained, upstream transcript variant, coding sequence variant, genic upstream transcript variant
rs754162997	TTACACCCTC>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs775068146	CA>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1565312182	TT>-	Pathogenic	Coding sequence variant, frameshift variant, genic upstream transcript variant
rs1565312616	G>A	Pathogenic	Upstream transcript variant, genic upstream transcript variant, splice donor variant

Show/Hide all (1)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022822	hsa-miR-124-3p	Microarray	18668037

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IEA
GO:0005515	Function	Protein binding	IPI	26586761, 32198364
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS
GO:0006935	Process	Chemotaxis	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IBA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	ISS
GO:0007411	Process	Axon guidance	NAS	15105459
GO:0007420	Process	Brain development	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	15105459
GO:0016199	Process	Axon midline choice point recognition	IEA
GO:0016199	Process	Axon midline choice point recognition	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0035295	Process	Tube development	IEA
GO:0050772	Process	Positive regulation of axonogenesis	IEA
GO:0050925	Process	Negative regulation of negative chemotaxis	IEA
GO:0070593	Process	Dendrite self-avoidance	IBA
GO:0071679	Process	Commissural neuron axon guidance	IEA
GO:0098632	Function	Cell-cell adhesion mediator activity	IBA
GO:1902669	Process	Positive regulation of axon guidance	IEA

MIM	HGNC	e!Ensembl
608630	13433	ENSG00000154134

Q96MS0

Protein name

Roundabout homolog 3 (Roundabout-like protein 3)

Protein function

Receptor involved in axon guidance during development (PubMed:15105459). Acts as a multifunctional regulator of pathfinding that simultaneously mediates NELL2 repulsion, inhibits SLIT repulsion, and facilitates Netrin-1/NTN1 attraction. In spina

PDB

6POG , 6POK , 6POL

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13927	Ig_3	63 → 147		Domain
PF07679	I-set	166 → 254	Immunoglobulin I-set domain	Domain
PF07679	I-set	258 → 343	Immunoglobulin I-set domain	Domain
PF13927	Ig_3	346 → 428		Domain
PF07679	I-set	451 → 537	Immunoglobulin I-set domain	Domain
PF00041	fn3	557 → 641	Fibronectin type III domain	Domain
PF00041	fn3	675 → 756	Fibronectin type III domain	Domain
PF00041	fn3	770 → 857	Fibronectin type III domain	Domain

Sequence

MLRYLLKTLLQMNLFADSLAGDISNSSELLLGFNSSLAALNHTLLPPGDPSLNGSRVGPE
DAMPRIVEQPPDLLVSRGEPATLPCRAEGRPRPNIEWYKNGARVATVREDPRAHRLLLPS
GALFFPRIVHGRRARPDEGVYTCVARNYLGAAASRNASLEVAVLRDDFRQSPGNVVVAVG
EPAVLECVPPRGHPEPSVSWRKDGARLKEEEGRITIRGGKLMMSHTLKSDAGMYVCVASN
MAGERESAAAEVMVLERPSFLRRPVNQVVLADAPVTFLCEVKGDPPPRLRWRKEDGELPT
GRYEIRSDHSLWIGHVSAEDEGTYTCVAENSVGRAEASGSLSVHVPPQLVTQPQDQMAAP
GESVAFQCETKGNPPPAIFWQKEGSQVLLFPSQSLQPTGRFSVSPRGQLNITAVQRGDAG
YYVCQAVSVAGSILAKALLEIKGASLDGLPPVILQGPANQTLVLGSSVWLPCRVTGNPQP
SVRWKKDGQWLQGDDLQFKTMANGTLYIANVQEMDMGFYSCVAKSSTGEATWSGWLKMRE
DWGVSPDPPTEPSSPPGAPSQPVVTEITKNSITLTWKPNPQTGAAVTSYVIEAFSPAAGN
TWRTVADGVQLETHTVSGLQPNTIYLFLVRAVGAWGLSEPSPVSEPVRTQDSSPSRPVED
PWRGQQGLAEVAVRLQEPIVLGPRTLQVSWTVDGPVQLVQGFRVSWRVAGPEGGSWTMLD
LQSPSQQSTVLRGLPPGTQIQIKVQAQGQEGLGAESLSVTRSIPEEAPSGPPQGVAVALG
GDGNSSITVSWEPPLPSQQNGVITEYQIWCLGNESRFHLNRSAAGWARSAMLRGLVPGLL
YRTLVAAATSAGVGVPSAPVLVQLPSPPDLEPGLEVGAGLAVRLARVLREPAFLAGSGAA
CGALLLGLCAALYWRRKQRKELSHYTASFAYTPAVSFPHSEGLSGASSRPPMGLGPAPYS
WLADSWPHPSRSPSAQEPRGSCCPSNPDPDDRYYNEAGISLYLAQTARGTAAPGEGPVYS
TIDPAGEELQTFHGGFPQHPSGDLGPWSQYAPPEWSQGDSGAKGGKVKLLGKPVQMPSLN
WPEALPPPPPSCELSCLEGPEEELEGSSEPEEWCPPMPERSHLTEPSSSGGCLVTPSRRE
TPSPTPSYGQQSTATLTPSPPDPPQPPTDMPHLHQMPRRVPLGPSSPLSVSQPMLGIREA
RPAGLGAGPAASPHLSPSPAPSTASSAPGRTWQGNGEMTPPLQGPRARFRKKPKALPYRR
ENSPGDLPPPPLPPPEEEASWALELRAAGSMSSLERERSGERKAVQAVPLAAQRVLHPDE
EAWLPYSRPSFLSRGQGTSTCSTAGSNSSRGSSSSRGSRGPGRSRSRSQSRSQSQRPGQK
RREEPR

Sequence length

1386

Interactions

View interactions

	KEGG		Reactome
	Axon guidance		Regulation of commissural axon pathfinding by SLIT and ROBO ROBO receptors bind AKAP5

194

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Conjugate gaze palsy	Pathogenic	rs2497298047	RCV004798939
Gaze palsy, familial horizontal, with progressive scoliosis 1	Pathogenic; Likely pathogenic	rs2497298047, rs121918270, rs2497317392, rs121918271, rs121918272, rs121918273, rs121918274, rs764801717, rs121918275, rs121918276, rs1565312616, rs775068146, rs1565312182, rs121918277, rs121918278 View all (15 more)	RCV002282779 RCV000002256 RCV000002257 RCV000002258 RCV000002259 RCV000002260 RCV000002261 RCV000002262 RCV000002263 RCV000002264 RCV000002265 RCV000002266 RCV000002267 RCV000002268 RCV000002269 RCV002471408 RCV003338106 RCV003988760 RCV000779047 RCV001251134 RCV001251133 RCV001290386 RCV001290387 RCV001290389 RCV001290390 RCV001290391 RCV001290392 RCV001290394 RCV001290397 RCV001290406 RCV001290407
ROBO3-related disorder	Likely pathogenic	rs2497303304	RCV003393226

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign	rs145185934	RCV005869283
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs75098003	RCV005892941
Colorectal cancer	Likely benign	rs145185934	RCV005869285
Familial cancer of breast	Conflicting classifications of pathogenicity	rs75098003	RCV005892939
Gastric cancer	Likely benign	rs145185934	RCV005869286
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs75098003	RCV005892940
Sarcoma	Benign	rs35978862, rs77513537	RCV005892937 RCV005892938
Tuberous sclerosis syndrome	Conflicting classifications of pathogenicity	rs772718098	RCV005626769
Uveal melanoma	Likely benign	rs145185934	RCV005869284

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Corpus Callosum	Associate	21850172
Anophthalmia with pulmonary hypoplasia	Associate	35993361
Arthritis Rheumatoid	Associate	20298552
Breast Neoplasms	Associate	21803008
Cartilage Diseases	Associate	20298552
Endometriosis	Associate	38035102
gaze palsy familial horizontal with progressive scoliosis	Associate	15105459, 16525029, 16772357, 21216876, 21850172, 24507697, 25885466
Inflammation	Associate	35993361
Intracranial Hemorrhages	Associate	25885466
Leukemia Myeloid Accelerated Phase	Associate	39408822
Leukemia Myeloid Acute	Associate	33541130
Lung Neoplasms	Associate	24398667
Neoplasm Metastasis	Associate	35993361
Neoplasms	Associate	24398667, 24493827
Pancreatic Neoplasms	Associate	35993361
Prostatic Neoplasms	Associate	33893074
Scoliosis	Associate	16525029, 21216876, 21850172, 24507697
Synesthesia	Associate	29507195

ROBO3 (roundabout guidance receptor 3)