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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NGEF
neuronal guanine nucleotide exchange factor
Chromosome 2 · 2q37.1
NCBI Gene: 25791Ensembl: ENSG00000066248.16HGNC: HGNC:7807UniProt: B4DDI2
39PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
guanyl-nucleotide exchange factor activityprotein bindingregulation of GTPase activityephrin receptor signaling pathwayschizophreniabipolar disorderVitiligoknee fracture
✦AI Summary

NGEF (neuronal guanine nucleotide exchange factor), also known as Ephexin1, is a Dbl family member that functions as a guanine nucleotide exchange factor (GEF) for Rho-type GTPases 1. In neurons, NGEF acts downstream of ephrin-EphA4 signaling to regulate axon guidance and growth cone dynamics by differentially activating RhoA, Rac1, and Cdc42 2. Upon EPHA4 activation, NGEF shifts GEF activity toward RhoA, promoting growth cone retraction 2. Beyond its canonical neuronal role, NGEF has emerged as a significant factor in cancer progression and neurological disease. In lung adenocarcinoma, elevated NGEF expression correlates with increased neural infiltration, larger tumor size, lymph node metastasis, and reduced overall survival through the Ephrin-A3/EphA2 pathway 34. High NGEF expression associates with enhanced sensitivity to certain chemotherapeutics and immunotherapy markers 4. Recently, NGEF was identified as a critical regulator of mTOR-dependent translation in cancer cells, promoting polysome formation and translation of TOP-motif containing genes, making it a potential synthetic lethal target for mTORC1 inhibitors 5. In Alzheimer's disease, NGEF neuronal knockdown impairs short-/intermediate-term memory function, implicating it in endosomal dysfunction-driven cognitive decline 6. Additionally, NGEF variants associate with idiopathic scoliosis through disrupted central pattern generator networks 2.

Sources cited
1
NGEF is a Dbl family member functioning as a GEF for Rho-type GTPases, predominantly expressed in brain caudate nucleus
PMID: 10777665
2
NGEF operates downstream of EPHA4-ephrin signaling to regulate axon guidance and growth cone dynamics; NGEF variants identified in idiopathic scoliosis patients
PMID: 40662934
3
NGEF promotes axonal growth and lung adenocarcinoma progression via Ephrin-A3/EphA2 pathway; high expression associates with poor prognosis
PMID: 40022166
4
NGEF is upregulated in lung adenocarcinoma, associates with advanced tumor stage, lymph node metastasis, and worse survival; correlates with immunotherapy and chemotherapy sensitivity
PMID: 38764064
5
NGEF (Ephexin1) promotes mTOR-regulated translation by coordinating translation initiation complex assembly; represents synthetic lethal target for mTOR inhibitors in cancer
PMID: 40855114
6
NGEF neuronal knockdown impairs short-/intermediate-term memory function in C. elegans model of Alzheimer's disease through endosomal dysfunction
PMID: 38692279
Disease Associationsⓘ20
schizophreniaOpen Targets
0.41Moderate
bipolar disorderOpen Targets
0.39Weak
VitiligoOpen Targets
0.32Weak
knee fractureOpen Targets
0.32Weak
attention deficit hyperactivity disorderOpen Targets
0.29Weak
major depressive disorderOpen Targets
0.29Weak
obsessive-compulsive disorderOpen Targets
0.29Weak
Tourette syndromeOpen Targets
0.29Weak
sign or symptomOpen Targets
0.28Weak
mathematical abilityOpen Targets
0.26Weak
anorexia nervosaOpen Targets
0.26Weak
autism spectrum disorderOpen Targets
0.26Weak
polypOpen Targets
0.22Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
sialolithiasisOpen Targets
0.17Weak
colorectal carcinomaOpen Targets
0.09Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
thyroid cancerOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAC3Protein interaction98%CDC42Protein interaction94%RHOAProtein interaction94%EFNA1Protein interaction93%EFNA2Protein interaction93%EFNA3Protein interaction93%
Tissue Expression6 tissues
Liver
100%
Brain
59%
Bone Marrow
3%
Ovary
3%
Heart
1%
Lung
0%
Gene Interaction Network
Click a node to explore
NGEFRAC3CDC42RHOAEFNA1EFNA2EFNA3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8N5V2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.50Moderately Constrained
pLIⓘ
0.96Intolerant
Observed/Expected LoF0.37 [0.27–0.50]
RankingsWhere NGEF stands among ~20K protein-coding genes
  • #10,363of 20,598
    Most Researched39
  • #2,998of 17,882
    Most Constrained (LOEUF)0.50 · top quartile
Genes detectedNGEF
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Neuronal guanine nucleotide exchange factor promotes the axonal growth and cancer cell proliferation via Ephrin-A3/EphA2 axis in lung adenocarcinoma.
PMID: 40022166
J Transl Med · 2025
1.00
2
NGEF is a potential prognostic biomarker and could serve as an indicator for immunotherapy and chemotherapy in lung adenocarcinoma.
PMID: 38764064
BMC Pulm Med · 2024
0.90
3
EPHA4 signaling dysregulation links abnormal locomotion and the development of idiopathic scoliosis.
PMID: 40662934
Elife · 2025
0.80
4
A systems biology-based identification and in vivo functional screening of Alzheimer's disease risk genes reveal modulators of memory function.
PMID: 38692279
Neuron · 2024
0.70
5
Characterization of Ngef, a novel member of the Dbl family of genes expressed predominantly in the caudate nucleus.
PMID: 10777665
Genomics · 2000
0.60