ROBO3 - roundabout guidance receptor 3 Gene

Homo sapiens

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

Gene ID: 64221 | Gene type: protein coding

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12112	ROBO3 Human Pre-designed siRNA Set A		/	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

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