ARHGEF40

Chr 14q11.2

Rho guanine nucleotide exchange factor 40

Aliases:: solo, FLJ10357
MANE:: ENST00000298694.9

OMIM: 610018 ↗NCBI: 55701 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

ARHGEF40 · Q8TER5

v62025-08-01

Predicted Aligned Error matrix for ARHGEF40 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.0/ 100

Low

1,519 residues

Confidence breakdown

Very high(≥ 90)16%
Confident(70–90)39%
Low(50–70)6%
Very low(< 50)40%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Abnormality of the skeletal system
0.46
neurodegenerative disease
0.33
neuroblastoma
0.33
atrial fibrillation
0.29
aortic valve disorder
0.26
Global developmental delay
0.19
myoepithelial tumor
0.11
Familial prostate cancer
0.11
prostate cancer
0.11
retinitis pigmentosa
0.11

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

Protein function (UniProt)

Rho guanine nucleotide exchange factor 40

Acts as a guanine nucleotide exchange factor (GEF) for RHOA and RHOC (PubMed:15107133, PubMed:26823019). Promotes actin stress fiber formation, force-induced stress fiber reinforcement and organization of KRT8/KRT18 networks via activation of RHOA/ROCK signaling, which is mediated by N-terminus KRT18 binding (PubMed:26823019, PubMed:30929300). Regulates the formation or maintenance of properly elongated morphology of epithelial tubules, via mediation of the organization and orientation of KRT18 filaments (By similarity). Promotes RHOA-dependent, cell-cell contact mediated reorientation of endothelial cells and their actin stress fibers in response to mechanotransduction (PubMed:25795300). Positively regulates hemidesmosome formation via acting as a linker protein that anchors keratin filaments to hemidesmosomes (PubMed:29672603). Also required for JUP localization at cell-cell adhesion junctions (PubMed:26823019)