ROBO3

Chr 11q24.2

roundabout guidance receptor 3

Aliases:: RBIG1, FLJ21044, HGPS
MANE:: ENST00000397801.6

OMIM: 608630 ↗NCBI: 64221 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

ROBO3 · Q96MS0

v62025-08-01

Predicted Aligned Error matrix for ROBO3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.7/ 100

Low

1,386 residues

Confidence breakdown

Very high(≥ 90)24%
Confident(70–90)27%
Low(50–70)6%
Very low(< 50)42%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Ataxia and cerebellar anomalies - narrow panel
BIALLELIC, autosomal or pseudoautosomal
Cerebellar hypoplasia
BIALLELIC, autosomal or pseudoautosomal
DDG2P
BIALLELIC, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

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Disease associations (Open Targets)

horizontal gaze palsy with progressive scoliosis
0.78
hereditary disease
0.42
conjugate gaze palsy
0.34
gestational diabetes
0.32
retinal disorder
0.31
Epiretinal membrane
0.31
kidney transplant
0.28
goiter
0.27
adolescent idiopathic scoliosis
0.23
tuberous sclerosis
0.16

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Roundabout homolog 3

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 spinal cord development plays a role in guiding commissural axons probably by preventing premature sensitivity to Slit proteins thus inhibiting Slit signaling through ROBO1/ROBO2. Binding OF NELL2 to the receptor ROBO3 promotes oligomerization of ROBO3, resulting in the repulsion of commissural axons in the midline. ROBO3 also indirectly boosts axon attraction to NTN1 without interacting with NTN1 itself (By similarity)