ARHGEF18 Gene

HGNC Family	Rho guanine nucleotide exchange factors (ARHGEF), Pleckstrin homology domain containing (PLEKH)
Name	Rho/Rac guanine nucleotide exchange factor (GEF) 18
Description	Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GEF family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2018]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ARHGEF18, also known as p114RhoGEF, is a Rho‐specific guanine nucleotide exchange factor that plays a central role in the spatial and context‐dependent activation of RhoA. In epithelial and endothelial cells, ARHGEF18 localizes to cell–cell junctions where it couples to junctional components and upstream adaptor proteins to drive the assembly and maintenance of tight and adherens junctions, thereby orchestrating actomyosin organization, regulating cell–cell tension, and promoting proper cell polarity and morphogenesis (see."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " In the retina, loss‐of‐function mutations in ARHGEF18 result in structural abnormalities that mimic those caused by defects in other polarity regulators (for instance, CRB1), highlighting its importance for retinal development and function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In addition, alternative splicing gives rise to a leukocyte‐specific isoform (LOCGEF‐X3) that lacks the canonical p114 sequences and appears to mediate RhoA‐dependent polarity changes in activated eosinophils, suggesting that ARHGEF18 can have cell type–restricted functions in controlling polarity during immune activation."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": " Moreover, differential expression of ARHGEF18 has been identified as a potential diagnostic marker in septic shock, with its levels correlating with patient survival; this observation implies that ARHGEF18 may also participate in inflammation‐related signaling pathways that impinge on vascular integrity and immune responses."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Olga Tornavaca, Minghao Chia, Neil Dufton, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ZO-1 controls endothelial adherens junctions, cell-cell tension, angiogenesis, and barrier formation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201404140"}], "href": "https://doi.org/10.1083/jcb.201404140"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25753039"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25753039"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Stephen J Terry, Ceniz Zihni, Ahmed Elbediwy, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Spatially restricted activation of RhoA signalling at epithelial junctions by p114RhoGEF drives junction formation and morphogenesis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Cell Biol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ncb2156"}], "href": "https://doi.org/10.1038/ncb2156"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21258369"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21258369"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jiaxin Niu, Jasmina Profirovic, Haiyun Pan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "G Protein betagamma subunits stimulate p114RhoGEF, a guanine nucleotide exchange factor for RhoA and Rac1: regulation of cell shape and reactive oxygen species production."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circ Res (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/01.RES.0000097607.14733.0C"}], "href": "https://doi.org/10.1161/01.RES.0000097607.14733.0C"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14512443"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14512443"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Hiroyuki Nakajima, Takuji Tanoue "}, {"type": "b", "children": [{"type": "t", "text": "Lulu2 regulates the circumferential actomyosin tensile system in epithelial cells through p114RhoGEF."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Biol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1083/jcb.201104118"}], "href": "https://doi.org/10.1083/jcb.201104118"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22006950"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22006950"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Gavin Arno, Keren J Carss, Sarah Hull, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2016.12.014"}], "href": "https://doi.org/10.1016/j.ajhg.2016.12.014"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28132693"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28132693"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Keren B Turton, Emily M Wilkerson, Alex S Hebert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of novel \"LOCGEF\" isoforms of ARHGEF18 in eosinophils."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Leukoc Biol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/JLB.2MA1017-418RR"}], "href": "https://doi.org/10.1002/JLB.2MA1017-418RR"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29601110"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29601110"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Yonghua Fan, Qiufeng Han, Jinfeng Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Revealing potential diagnostic gene biomarkers of septic shock based on machine learning analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Infect Dis (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12879-022-07056-4"}], "href": "https://doi.org/10.1186/s12879-022-07056-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35045818"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35045818"}]}]}]}
Synonyms	P114-RHOGEF, RP78
Proteins	ARHGI_HUMAN
NCBI Gene ID	23370
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ARHGEF18 has 6,249 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 123 datasets.

Click the + buttons to view associations for ARHGEF18 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ARHGEF18 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ARHGEF18 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ARHGEF18 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ARHGEF18 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ARHGEF18 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ARHGEF18 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ARHGEF18 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ARHGEF18 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ARHGEF18 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ARHGEF18 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ARHGEF18 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ARHGEF18 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ARHGEF18 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with ARHGEF18 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ARHGEF18 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ARHGEF18 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ARHGEF18 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ARHGEF18 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with ARHGEF18 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing ARHGEF18 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ARHGEF18 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ARHGEF18 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ARHGEF18 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores	cellular components containing ARHGEF18 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ARHGEF18 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ARHGEF18 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ARHGEF18 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ARHGEF18 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ARHGEF18 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ARHGEF18 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ARHGEF18 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ARHGEF18 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ARHGEF18 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ARHGEF18 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ARHGEF18 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ARHGEF18 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ARHGEF18 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ARHGEF18 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ARHGEF18 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ARHGEF18 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ARHGEF18 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.