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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ARHGEF18
Rho/Rac guanine nucleotide exchange factor 18
Chromosome 19 Β· 19p13.2
NCBI Gene: 23370Ensembl: ENSG00000104880HGNC: HGNC:17090UniProt: A0A087WZG4
52PubMed Papers
21Diseases
0Drugs
27Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activitysmall GTPase-mediated signal transductionactin cytoskeleton organizationprotein bindingretinitis pigmentosa 78retinitis pigmentosahypertensionIncreased blood pressure
✦AI Summary

ARHGEF18 is a guanine nucleotide exchange factor (GEF) that primarily activates RhoA GTPase to regulate actin cytoskeleton dynamics and cell polarity 1. The protein exists in multiple isoforms, including the canonical p114 form and leukocyte-specific LOCGEF variants, with distinct tissue-specific expression patterns 2. Beyond RhoA activation, ARHGEF18 also acts as a GEF for RAC1, promoting reactive oxygen species production [UniProt annotation]. ARHGEF18 is emerging as a critical regulator of vascular and epithelial barrier function. Recent evidence demonstrates that ARHGEF18 is phosphorylation-dependent and flow-responsive in endothelial cells, where it maintains tight junctions and controls vascular permeability through RhoA-mediated signaling 3. During epithelial migration, p114 ARHGEF18 accumulates at adherens junctions to stabilize E-cadherin and promote collective cell movement 4. ARHGEF18 also participates in early mitochondrial fission through activation by SEPTIN9 5. In development, ARHGEF18 maintains neuroepithelial apicobasal polarity and controls proliferation via RhoA-Rock2 signaling 1. Clinically, ARHGEF18 dysregulation associates with retinitis pigmentosa 78 and pulmonary arterial hypertension 6, and machine learning studies identify ARHGEF18 as a diagnostic biomarker for sepsis and septic shock 78.

Sources cited
1
ARHGEF18 is phosphorylated and flow-responsive in endothelial cells; maintains tight junctions and vascular permeability under physiological flow conditions
PMID: 39977269
2
ARHGEF18 exists as multiple isoforms (p114, LOCGEF-X3/X4/X5); LOCGEF isoforms are expressed in eosinophils and regulate leukocyte polarity
PMID: 29601110
3
ARHGEF18 is locally activated by SEPTIN9 to promote early stages of mitochondrial fission through actin polymerization
PMID: 40920138
4
ARHGEF18 is identified as a diagnostic biomarker for sepsis subtypes with excellent predictive performance (AUC 0.987)
PMID: 40362233
5
ARHGEF18 rs3745357 polymorphism associates with genetic susceptibility to nonidiopathic pulmonary arterial hypertension
PMID: 30405854
6
ARHGEF18 is identified as a diagnostic gene biomarker for septic shock; related to patient survival outcomes
PMID: 35045818
7
ARHGEF18-mediated RhoA-Rock2 signaling maintains apicobasal polarity and controls proliferation in retinal neuroepithelium
PMID: 23698346
8
p114 ARHGEF18 activates RhoA at adherens junctions to stabilize E-cadherin and promote collective epithelial migration
PMID: 34368835
Disease Associationsβ“˜21
retinitis pigmentosa 78Open Targets
0.60Moderate
retinitis pigmentosaOpen Targets
0.60Moderate
hypertensionOpen Targets
0.49Moderate
Increased blood pressureOpen Targets
0.42Moderate
Retinal dystrophyOpen Targets
0.40Moderate
essential hypertensionOpen Targets
0.40Weak
Phenotypic abnormalityOpen Targets
0.34Weak
cardiovascular diseaseOpen Targets
0.29Weak
genetic disorderOpen Targets
0.19Weak
inherited retinal dystrophyOpen Targets
0.19Weak
response to statinOpen Targets
0.15Weak
optic atrophyOpen Targets
0.14Weak
cleft lipOpen Targets
0.13Weak
inborn disorder of amino acid metabolismOpen Targets
0.12Weak
COVID-19Open Targets
0.08Suggestive
severe acute respiratory syndromeOpen Targets
0.08Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
response to xenobiotic stimulusOpen Targets
0.06Suggestive
Retinitis pigmentosa 78UniProt
Pathogenic Variants27
NM_001367823.1(ARHGEF18):c.2905-1G>TLikely pathogenic
Retinitis pigmentosa 78|not provided|Retinal dystrophy
β˜…β˜…β˜†β˜†2023
NM_001367823.1(ARHGEF18):c.968-301_968-258delPathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001367823.1(ARHGEF18):c.2957C>A (p.Ser986Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 986
NM_001367823.1(ARHGEF18):c.3481-1G>CLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001367823.1(ARHGEF18):c.3340C>T (p.Gln1114Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1114
NM_001367823.1(ARHGEF18):c.2773+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_001367823.1(ARHGEF18):c.2661_2670del (p.Cys887fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 887
NM_001367823.1(ARHGEF18):c.1372A>G (p.Thr458Ala)Likely pathogenic
Retinitis pigmentosa 78|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 458
NM_001367823.1(ARHGEF18):c.968-298A>TPathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_001367823.1(ARHGEF18):c.294dup (p.Ala99fs)Likely pathogenic
Retinitis pigmentosa 78
β˜…β˜†β˜†β˜†2023β†’ Residue 99
NM_001367823.1(ARHGEF18):c.1054_1057del (p.Lys352fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 352
NM_001367823.1(ARHGEF18):c.3726dup (p.Thr1243fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1243
NM_001367823.1(ARHGEF18):c.1588dup (p.Ile530fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 530
NM_001367823.1(ARHGEF18):c.1885C>T (p.Gln629Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 629
NM_001367823.1(ARHGEF18):c.1150A>T (p.Lys384Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 384
NM_001367823.1(ARHGEF18):c.1582C>T (p.Gln528Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 528
NM_001367823.1(ARHGEF18):c.3837del (p.Asp1280fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1280
NM_001367823.1(ARHGEF18):c.3196G>T (p.Glu1066Ter)Pathogenic
Retinitis pigmentosa 78|not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1066
NM_001367823.1(ARHGEF18):c.2827C>T (p.Arg943Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 943
NM_001367823.1(ARHGEF18):c.3145C>T (p.Gln1049Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 1049
View on ClinVar β†—
Related Genes
F11RProtein interaction99%PATJProtein interaction99%CGNProtein interaction99%EPB41L4BProtein interaction96%STK11Protein interaction95%RHOAProtein interaction87%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
95%
Brain
88%
Liver
72%
Ovary
64%
Heart
22%
Gene Interaction Network
Click a node to explore
ARHGEF18F11RPATJCGNEPB41L4BSTK11RHOA
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6ZSZ5
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.81LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.68 [0.57–0.81]
RankingsWhere ARHGEF18 stands among ~20K protein-coding genes
  • #8,527of 20,598
    Most Researched52
  • #1,912of 5,498
    Most Pathogenic Variants27
  • #6,817of 17,882
    Most Constrained (LOEUF)0.81
Genes detectedARHGEF18
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ARHGEF18 is a flow-responsive exchange factor controlling endothelial tight junctions and vascular leakage.
PMID: 39977269
Cell Rep Β· 2025
1.00
2
Expression of novel "LOCGEF" isoforms of ARHGEF18 in eosinophils.
PMID: 29601110
J Leukoc Biol Β· 2018
0.90
3
SEPTIN9 locally activates the RhoGEF ARHGEF18 to promote early stages of mitochondrial fission.
PMID: 40920138
J Cell Biol Β· 2025
0.80
4
Exploring the Role of Circadian Rhythm-Related Genes in the Identification of Sepsis Subtypes and the Construction of Diagnostic Models Based on RNA-seq and scRNA-seq.
PMID: 40362233
Int J Mol Sci Β· 2025
0.70
5
Association between a Single Nucleotide Polymorphism in the 3'-UTR of
PMID: 30405854
Dis Markers Β· 2018
0.60