ROBO3 - roundabout guidance receptor 3 Gene

Also Known as HGPS; RIG1; HGPPS; RBIG1; HGPPS1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64221

About ROBO3

Cytogenetic location: 11q24.2 Genomic coordinates (GRCh38): 11:124,865,432-124,881,471 (from NCBI)

This gene has 21 transcripts (splice variants), 319 orthologues, 36 paralogues and is associated with 4 phenotypes. Ubiquitous expression in ovary (RPKM 7.2), spleen (RPKM 3.0) and 21 other tissues.

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 of secreted chemorepellants, are ligands for ROBO proteins and SLIT/ROBO interactions regulate myogenesis, leukocyte migration, kidney morphogenesis, angiogenesis, and vasculogenesis in addition to neurogenesis. This gene, ROBO3, has a putative extracellular domain with five immunoglobulin (Ig)-like loops and three fibronectin (Fn) type III motifs, a transmembrane segment, and a cytoplasmic tail with three conserved signaling motifs: CC0, CC2, and CC3 (CC for conserved cytoplasmic). Unlike Other ROBO family members, ROBO3 lacks motif CC1. The ROBO3 gene regulates axonal navigation at the ventral midline of the neural tube. In mouse, loss of Robo3 results in a complete failure of commissural axons to cross the midline throughout the spinal cord and the hindbrain. Mutations ROBO3 result in horizontal gaze palsy with progressive scoliosis (HGPPS); an autosomal recessive disorder characterized by congenital absence of horizontal gaze, progressive scoliosis, and failure of the corticospinal and somatosensory axon tracts to cross the midline in the medulla. [provided by RefSeq, May 2019]

ROBO3 Products (8)

mRNA	Protein	Name
NM_001370356.1	NP_001357285.1	roundabout homolog 3 isoform b
NM_001370357.1	NP_001357286.1	roundabout homolog 3 isoform b
NM_001370358.1	NP_001357287.1	roundabout homolog 3 isoform b
NM_001370359.1	NP_001357288.1	roundabout homolog 3 isoform b
NM_001370361.1	NP_001357290.1	roundabout homolog 3 isoform b
NM_001370364.1	NP_001357293.1	roundabout homolog 3 isoform c
NM_001370366.1	NP_001357295.1	roundabout homolog 3 isoform c
NM_022370.4	NP_071765.2	roundabout homolog 3 isoform a precursor

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	26586761	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ROBO3 Protein Structure

I-set

fn3

0
300
600
900
1200
1386 a.a.

Protein Preferred Names	Protein Names
roundabout homolog 3	retinoblastoma inhibiting gene 1

Related Diseases

Diseases	Alias
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Hgpps Horizontal Gaze Palsy With Progressive Scoliosis Gaze Palsy, Familial Horizontal, With Progressive Scoliosis HGPPS1 Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, 1 Gaze Palsy, Horizontal, With Progressive Scoliosis Progressive External Ophthalmoplegia And Scoliosis Familial Horizontal Gaze Palsy With Progressive Scoliosis Familial Idiopathic Scoliosis Associated With Congenital Encephalopathy Familial Infantile Scoliosis Associated With Bilateral Paralysis Of Conjugate Gaze Ophthalmoplegia, Progressive External, And Scoliosis Gaze Palsy, Familial Horizontal, With Progressive Scoliosis, Type 1
Scoliosis
Esotropia	Convergence In Manifest Squint Crossed Eyes Internal Strabismus Convergent Concomitant Strabismus Convergent Squint Convergent Strabismus Cross-Eye
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a	MLC2A Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 2a Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 2a
Dissociated Nystagmus
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Complex Cortical Dysplasia With Other Brain Malformations 1 CDCBM1 Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Mirror Movements 1	Congenital Mirror Movement Disorder Bimanual Synergia Congenital Mirror Movements Familial Congenital Controlateral Synkinesia Familial Congenital Mirror Movements Hereditary Congenital Controlateral Synkinesia Hereditary Congenital Mirror Movements Isolated Congenital Controlateral Synkinesia Isolated Congenital Mirror Movements Mirror Movements MRMV1 Mirror Movements 1 And/Or Agenesis Of The Corpus Callosum Mirror Movements, Congenital Bimanual Synkinesis Cmm Mirror Movements, Type 1
Congenital Fibrosis Of The Extraocular Muscles	Congenital Fibrosis Of Extraocular Muscles Cfeom Feom Congenital External Ophthalmoplegia Congenital Fibrosis Syndrome General Fibrosis Syndrome
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b	Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Mental Retardation
Achilles Bursitis	Achilles Bursitis Or Tendinitis Capped Hock Haglund'S Deformity Haglund'S Disease Osteochondritis Of The Talus
Bone Structure Disease
Hypotropia
Hypertropia
Partial Third-Nerve Palsy	Partial Third Nerve Palsy Third Nerve Palsy With Pupil Sparing Third Or Oculomotor Nerve Palsy, Partial Oculomotor Nerve Diseases Oculomotor Nerve Paralysis
Duane Retraction Syndrome	Stilling-Turk-Duane Syndrome Duane'S Syndrome Duane Syndrome Isolated Duane Retraction Syndrome Co-Contractive Retraction Syndrome Duane Anomaly, Isolated Ocular Retraction Syndrome Drs Durs
Klippel-Feil Syndrome	Cervical Vertebral Fusion Congenital Dystrophia Brevicollis Cervical Fusion Syndrome Klippel-Feil Deformity Autosomal Dominant Klippel-Feil Syndrome Congenital Synostosis Of Cervical Vertebrae Klippel-Feil And Turner Syndrome Klippel-Feil Deformity, Deafness And Facial Asymmetry Klippel Feil Syndrome Cervical Vertebral Fusion Syndrome Dystrophia Brevicollis Congenita Fusion Of Cervical Vertebrae Kfs Klippel-Feil Sequence Vertebral Cervical Fusion Syndrome Klippel-Feil Syndrome, Autosomal Dominant Klippel-Feil Malformation Isolated Klippel-Feil Syndrome
Exotropia	Divergent Concomitant Strabismus Divergent Strabismus Divergent Squint External Strabismus Xt - [Exotropia]
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Moebius Syndrome	Mobius Syndrome Moebius Sequence Oromandibular-Limb Hypogenesis Spectrum Congenital Facial Diplegia MBS Moebius Congenital Oculofacial Paralysis Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves Congenital Facial Diplegia Syndrome Congenital Oculofacial Paralysis Congenital Ophthalmoplegia And Facial Paresis Moebius Spectrum Möbius Sequence Möbius Syndrome Mobius Ii Syndrome
Congenital Ptosis	Congenital Blepharoptosis Congenital Eyelid Ptosis
Strabismus	Strabismus, Susceptibility To Strabismus, Susceptibility To, 1 Strabismus 1
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12112	ROBO3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21038	Robo3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27555	Robo3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	ROBO3	VGNC	VGNC:34080
Canis familiaris	ROBO3	VGNC	VGNC:45686
Macaca mulatta	ROBO3	VGNC	VGNC:101392
Felis catus	ROBO3	VGNC	VGNC:64714
Mus musculus	ROBO3	MGD	MGI:1343102
Rattus norvegicus	ROBO3	RGD	RGD:1311018