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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2
Chromosome 1 · 1q22
NCBI Gene: 9181Ensembl: ENSG00000116584.23HGNC: HGNC:682UniProt: Q92974
216PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
microtubule bindingcellular response to muramyl dipeptideprotein-containing complexsmall GTPase bindingneurodevelopmental disorder with midbrain and hindbrain malformationsAbnormality of the skeletal systemParkinson diseasemicrocephaly
✦AI Summary

ARHGEF2 is a Rho/Rac guanine nucleotide exchange factor that activates RhoA signaling pathways and plays diverse roles in cellular processes and disease. The protein functions as a key activator of RhoA-dependent pathways, with its activity regulated through microtubule-mediated sequestration and release mechanisms 1. In cancer biology, ARHGEF2 demonstrates complex roles across different tumor types. In colorectal cancer, YTHDF1 promotes ARHGEF2 translation through m6A-mediated mechanisms, enhancing RhoA signaling and supporting tumor growth and metastasis 2. Conversely, in prostate cancer, ARHGEF2 is directly suppressed by androgen receptor signaling, but androgen deprivation therapy restores ARHGEF2 expression, contributing to treatment resistance and neuroendocrine differentiation 3. The protein also regulates cellular metabolism, as demonstrated in pancreatic cancer-associated fibroblasts where ARHGEF2 controls macropinocytosis through CaMKK2/AMPK signaling, supporting both stromal cell fitness and tumor cell survival 4. In immune function, ARHGEF2 forms regulatory complexes with CCDC88B and RASAL3 that modulate dendritic cell migration and immune responses in neuroinflammation and colitis 5. Additionally, ARHGEF2 participates in oncogenic fusion proteins, as seen in ARHGEF2-NTRK1 fusions identified in various cancers including glioblastoma and histiocytosis 67.

Sources cited
1
ARHGEF2 activity is regulated through microtubule-mediated sequestration and release mechanisms
PMID: 41365297
2
YTHDF1 promotes ARHGEF2 translation through m6A mechanisms, enhancing RhoA signaling in colorectal cancer
PMID: 34968454
3
ARHGEF2 is suppressed by androgen receptor but restored during androgen deprivation therapy in prostate cancer
PMID: 36335093
4
ARHGEF2 controls macropinocytosis in pancreatic cancer-associated fibroblasts through CaMKK2/AMPK signaling
PMID: 33653692
5
ARHGEF2 forms regulatory complexes with CCDC88B and RASAL3 to modulate dendritic cell migration
PMID: 38200184
6
ARHGEF2-NTRK1 fusion identified in glioblastoma
PMID: 25384085
7
ARHGEF2 participates in NTRK1 fusion proteins in histiocytosis
PMID: 40315374
Disease Associationsⓘ21
neurodevelopmental disorder with midbrain and hindbrain malformationsOpen Targets
0.48Moderate
Abnormality of the skeletal systemOpen Targets
0.15Weak
Parkinson diseaseOpen Targets
0.14Weak
microcephalyOpen Targets
0.14Weak
hair colorOpen Targets
0.13Weak
neoplasmOpen Targets
0.11Weak
myoepithelial tumorOpen Targets
0.11Weak
infectionOpen Targets
0.10Suggestive
infectious meningitisOpen Targets
0.09Suggestive
non-small cell lung carcinomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.09Suggestive
melanomaOpen Targets
0.08Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.08Suggestive
small cell lung carcinomaOpen Targets
0.08Suggestive
squamous cell carcinomaOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
adenocarcinomaOpen Targets
0.08Suggestive
adenoid cystic carcinomaOpen Targets
0.07Suggestive
colitisOpen Targets
0.06Suggestive
Neurodevelopmental disorder with midbrain and hindbrain malformationsUniProt
Pathogenic Variants1
NM_001162383.2(ARHGEF2):c.1545+1delPathogenic
Neurodevelopmental disorder with midbrain and hindbrain malformations
☆☆☆☆2017
View on ClinVar ↗
Related Genes
NOD1Protein interaction100%TJP2Protein interaction100%TUBBProtein interaction99%CGNProtein interaction99%TUBB3Protein interaction99%CGNL1Protein interaction99%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
87%
Brain
81%
Heart
43%
Ovary
30%
Liver
11%
Gene Interaction Network
Click a node to explore
ARHGEF2NOD1TJP2TUBBCGNTUBB3CGNL1
PROTEIN STRUCTURE
Preparing viewer…
PDB7G83 · 1.31 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.26Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.18 [0.13–0.26]
RankingsWhere ARHGEF2 stands among ~20K protein-coding genes
  • #1,914of 20,598
    Most Researched216 · top 10%
  • #4,718of 5,498
    Most Pathogenic Variants1
  • #831of 17,882
    Most Constrained (LOEUF)0.26 · top 5%
Genes detectedARHGEF2
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Anchored multiplex PCR for targeted next-generation sequencing.
PMID: 25384085
Nat Med · 2014
1.00
2
N6-Methyladenosine Reader YTHDF1 Promotes ARHGEF2 Translation and RhoA Signaling in Colorectal Cancer.
PMID: 34968454
Gastroenterology · 2022
0.90
3
Macropinocytosis in Cancer-Associated Fibroblasts Is Dependent on CaMKK2/ARHGEF2 Signaling and Functions to Support Tumor and Stromal Cell Fitness.
PMID: 33653692
Cancer Discov · 2021
0.80
4
CCDC88B interacts with RASAL3 and ARHGEF2 and regulates dendritic cell function in neuroinflammation and colitis.
PMID: 38200184
Commun Biol · 2024
0.70
5
GEF-H1 drives breast cancer cells to tumor progression.
PMID: 40154811
Biochim Biophys Acta Mol Basis Dis · 2025
0.68