ROBO3 (roundabout guidance receptor 3)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
64221
Gene name Gene Name - the full gene name approved by the HGNC.
Roundabout guidance receptor 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ROBO3
Synonyms (NCBI Gene) Gene synonyms aliases
HGPPS, HGPPS1, HGPS, RBIG1, RIG1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
HGPPS1, HGPS
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q24.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT022822 hsa-miR-124-3p Microarray 18668037
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 26586761
GO:0005886 Component Plasma membrane IBA 21873635
GO:0005886 Component Plasma membrane TAS
GO:0007156 Process Homophilic cell adhesion via plasma membrane adhesion molecules IBA 21873635
GO:0007411 Process Axon guidance IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608630 13433 ENSG00000154134
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Axon guidance   Regulation of commissural axon pathfinding by SLIT and ROBO
ROBO receptors bind AKAP5
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (6)
Causal
Disease term Disease name dbSNP ID References
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)		 18270976
Gaze palsy, with progressive scoliosis Gaze Palsy, Familial Horizontal, with Progressive Scoliosis rs121918270, rs121918271, rs121918272, rs121918273, rs121918274, rs121918275, rs121918276, rs1565312616, rs775068146, rs1565312182, rs121918277, rs121918278, rs1555682265, rs756837590, rs771613910
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Gaze Palsy, With Progressive Scoliosis gaze palsy, familial horizontal, with progressive scoliosis 1 GenCC
Show/Hide Text Mining Associations (18)
Associations from Text Mining
Disease Name Relationship Type References
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