ARHGEF18

Chr 19p13.2

Rho/Rac guanine nucleotide exchange factor 18

Aliases:: P114-RhoGEF, KIAA0521, MGC15913, p114RhoGEF
MANE:: ENST00000668164.2

OMIM: 616432 ↗NCBI: 23370 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ARHGEF18 · Q6ZSZ5

v62025-08-01

Predicted Aligned Error matrix for ARHGEF18 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

60.8/ 100

Low

1,361 residues

Confidence breakdown

Very high(≥ 90)26%
Confident(70–90)17%
Low(50–70)7%
Very low(< 50)50%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Retinal disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

retinitis pigmentosa 78
0.61
retinitis pigmentosa
0.60
hypertensive disorder
0.45
Retinal dystrophy
0.40
Increased blood pressure
0.37
essential hypertension
0.35
Phenotypic abnormality
0.33
cardiovascular disorder
0.25
hereditary disease
0.19
inherited retinal dystrophy
0.19

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

Protein function (UniProt)

Rho guanine nucleotide exchange factor 18

Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also acts as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G protein-coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950)