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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
EI24
EI24 autophagy associated transmembrane protein
Chromosome 11 Β· 11q24.2
NCBI Gene: 9538Ensembl: ENSG00000149547.15HGNC: HGNC:13276UniProt: E9PK61
66PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cytosolmembraneimportin-alpha family protein bindingnegative regulation of cell growthneurodegenerative diseaselysosomal storage diseaseIntellectual disabilityesophageal squamous cell carcinoma
✦AI Summary

EI24 is an autophagy-associated transmembrane protein that functions as a multifaceted regulator of cell survival and death pathways. As a p53-target gene, EI24 acts as a negative growth regulator by inducing apoptosis through the p53-mediated pathway 1. Beyond apoptosis, EI24 regulates critical cellular processes including autophagy flux, ER stress adaptation, and tumor immunity 23. Mechanistically, EI24 localizes to the endoplasmic reticulum-mitochondria interface where it tethers these organelles to regulate autophagy through interactions with VDAC1, IP3R, and GRP75 2. During ER stress, EI24 coordinates IRE1 signaling and calcium homeostasis to promote cell adaptation by inhibiting IRE1 activation under nonstressed conditions and preventing ER calcium depletion upon stress 3. Clinically, EI24 expression is aberrant across diverse cancer types and associates with patient prognosis 45. EI24 maps to chromosome 11-q24, a region frequently altered in human cancers 6. Reduced EI24 expression through deletion and methylation correlates with cancer progression, particularly in cervical carcinoma, and predicts worse prognosis 7. However, EI24's tumor-suppressive role appears context-dependent, as Ei24 overexpression showed no protective effect in a colorectal cancer model 8. EI24 represents a promising biomarker and therapeutic target for cancer management.

Sources cited
1
EI24 shows differential expression in most cancer types, associates with prognosis, and correlates with tumor immunity and immune checkpoint genes across multiple cancers
PMID: 37086389
2
EI24 is a p53-target gene that induces apoptosis and localizes to chromosome 11q23-24, a region frequently altered in human cancers
PMID: 10965130
3
EI24 regulates tumor metastasis, proliferation, angiogenesis, drug resistance, and autophagy, with potential as a diagnostic, prognostic, and therapeutic target
PMID: 41473975
4
EI24/PIG8 is directly regulated by p53, negatively controls cell growth, induces apoptosis through p53-mediated pathway, and is located on chromosome 11q23
PMID: 10594026
5
EI24 overexpression showed no significant protective effect against intestinal adenoma development in ApcMin/+ mice
PMID: 31097220
6
EI24 promotes cell adaptation to ER stress by coordinating IRE1 signaling and calcium homeostasis, acting as a novel anti-apoptotic factor
PMID: 35005829
7
EI24 tethers ER and mitochondria at MAMs via interactions with VDAC1, IP3R, and GRP75 to regulate autophagy flux through its C-terminal domain
PMID: 31332481
8
EI24 inactivation through deletion and methylation is associated with cervical carcinoma progression and predicts worse prognosis when coupled with tumor stage
PMID: 21154811
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.55Moderate
lysosomal storage diseaseOpen Targets
0.37Weak
Intellectual disabilityOpen Targets
0.26Weak
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.06Suggestive
cancerOpen Targets
0.06Suggestive
mouth neoplasmOpen Targets
0.05Suggestive
triple-negative breast cancerOpen Targets
0.04Suggestive
actinic keratosisOpen Targets
0.02Suggestive
breast ductal carcinoma in situOpen Targets
0.01Suggestive
breast carcinomaOpen Targets
0.01Suggestive
diabetes mellitusOpen Targets
0.01Suggestive
non-alcoholic steatohepatitisOpen Targets
0.01Suggestive
lymph node metastatic carcinomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
non-small cell lung carcinomaOpen Targets
0.01Suggestive
pulmonary fibrosisOpen Targets
0.01Suggestive
Invasive Breast CarcinomaOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants1
NM_004879.5(EI24):c.742C>T (p.Pro248Ser)Likely pathogenic
Intellectual disability
β˜†β˜†β˜†β˜†β†’ Residue 248
View on ClinVar β†—
Related Genes
TP53I3Protein interaction93%EPG5Protein interaction73%TCHPShared pathway50%NAIF1Shared pathway33%PRUNE2Shared pathway33%TMEM74Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Heart
33%
Brain
30%
Lung
26%
Ovary
19%
Bone Marrow
11%
Gene Interaction Network
Click a node to explore
EI24TP53I3EPG5TCHPNAIF1PRUNE2TMEM74
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O14681
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.72LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.48 [0.33–0.72]
RankingsWhere EI24 stands among ~20K protein-coding genes
  • #7,056of 20,598
    Most Researched66
  • #5,015of 5,498
    Most Pathogenic Variants1
  • #5,578of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedEI24
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Prognostic role and immune infiltration characteristics of EI24 in multiple cancer types.
PMID: 37086389
Expert Rev Mol Diagn Β· 2023
1.00
2
The p53-inducible gene EI24/PIG8 localizes to human chromosome 11q23 and the proximal region of mouse chromosome 9.
PMID: 10965130
Cytogenet Cell Genet Β· 2000
0.90
3
Biological significance, molecular mechanisms and clinical potential of EI24 in cancer.
PMID: 41473975
Chin Med J (Engl) Β· 2026
0.80
4
ei24, a p53 response gene involved in growth suppression and apoptosis.
PMID: 10594026
Mol Cell Biol Β· 2000
0.70
5
Effect of EI24 expression on the tumorigenesis of Apc
PMID: 31097220
Biochem Biophys Res Commun Β· 2019
0.60