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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
YJEFN3
YjeF N-terminal domain containing 3
Chromosome 19 Β· 19p13.11
NCBI Gene: 374887Ensembl: ENSG00000250067.13HGNC: HGNC:24785UniProt: A6XGL0
11PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingNAD(P)HX epimerase activitysprouting angiogenesisregulation of Notch signaling pathwayneurodegenerative diseasecirrhosis of livermathematical abilityrheumatoid arthritis
✦AI Summary

YJEFN3 (YjeF N-terminal domain containing 3) is a protein with proposed roles in cholesterol metabolism and hematopoietic development. Based on functional similarity to AIBP, YJEFN3 may facilitate cholesterol efflux from endothelial cells to HDL, potentially activating the transcription factor SREBF2 and promoting NOTCH signaling to regulate hematopoietic stem and progenitor cell emergence from hemogenic endothelium 1. The gene contains NAD(P)HX epimerase activity and localizes to membrane rafts and mitochondria, consistent with lipid metabolism functions. In disease contexts, YJEFN3 has emerged as a potential tumor antigen for prostate adenocarcinoma mRNA vaccine development, identified among overexpressed and mutated candidates with poor prognostic value 2. In colorectal cancer, YJEFN3 was identified as a mitochondrial lipid metabolism-related gene associated with disease prognosis and immune landscape, with functional studies showing that YJEFN3 knockdown suppressed cancer cell proliferation, migration, and invasion 3. Additionally, YJEFN3 was identified as a potential functional gene linking autoimmune hepatitis with psychiatric comorbidity through shared genetic pathways in brain tissues 4. These findings suggest YJEFN3 participates in both developmental hematopoiesis and cancer-related pathways.

Sources cited
1
Cholesterol efflux mechanisms activate SREBF2 and NOTCH signaling to promote HSPC emergence from hemogenic endothelium
PMID: 30705153
2
YJEFN3 identified as overexpressed and mutated tumor antigen candidate for prostate adenocarcinoma mRNA vaccine development
PMID: 34872584
3
YJEFN3 is a mitochondrial lipid metabolism-related gene in colorectal cancer; knockdown suppresses cell proliferation, migration, and invasion
PMID: 41293172
4
YJEFN3 identified as a potential functional gene linking autoimmune hepatitis with psychiatric comorbidity through shared genetic pathways
PMID: 41350606
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.40Weak
cirrhosis of liverOpen Targets
0.15Weak
mathematical abilityOpen Targets
0.10Suggestive
rheumatoid arthritisOpen Targets
0.08Suggestive
Abnormality of the skeletal systemOpen Targets
0.07Suggestive
refractive errorOpen Targets
0.06Suggestive
breast cancerOpen Targets
0.04Suggestive
ovarian carcinomaOpen Targets
0.04Suggestive
schizophreniaOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
prostate carcinomaOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
migraine disorderOpen Targets
0.04Suggestive
esophageal varicesOpen Targets
0.03Suggestive
bipolar disorderOpen Targets
0.03Suggestive
myopiaOpen Targets
0.02Suggestive
attention deficit hyperactivity disorderOpen Targets
0.02Suggestive
Barrett's esophagusOpen Targets
0.02Suggestive
type 2 diabetes mellitusOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PNPOProtein interaction90%NAXDProtein interaction87%DCP2Protein interaction77%NAXEShared pathway60%SYNJ2BPShared pathway22%ISM1Shared pathway20%
Tissue Expression6 tissues
Liver
100%
Ovary
100%
Bone Marrow
50%
Lung
46%
Heart
44%
Brain
25%
Gene Interaction Network
Click a node to explore
YJEFN3PNPONAXDDCP2NAXESYNJ2BPISM1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6ZT45
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.45LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.06 [0.79–1.45]
RankingsWhere YJEFN3 stands among ~20K protein-coding genes
  • #16,944of 20,598
    Most Researched11
  • #14,839of 17,882
    Most Constrained (LOEUF)1.45
Genes detectedYJEFN3
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Tumor-antigens and immune landscapes identification for prostate adenocarcinoma mRNA vaccine.
PMID: 34872584
Mol Cancer Β· 2021
1.00
2
AIBP-mediated cholesterol efflux instructs hematopoietic stem and progenitor cell fate.
PMID: 30705153
Science Β· 2019
0.75
3
A mitochondrial lipid metabolism-related gene signature predicts prognosis and immune landscape in colorectal cancer.
PMID: 41293172
Front Immunol Β· 2025
0.50
4
Genome-annotated bivariate analysis of shared heritability in autoimmune hepatitis with psychiatric comorbidity.
PMID: 41350606
Sci Rep Β· 2025
0.25