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GeneE
1 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.
PLEKHJ1
pleckstrin homology domain containing J1
Chromosome 19 Β· 19p13.3
NCBI Gene: 55111Ensembl: ENSG00000104886.12HGNC: HGNC:18211UniProt: K7EIZ3
18PubMed Papers
18Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingreceptor recyclingendosome organizationretrograde transport, endosome to Golgicoronary artery diseaseAbdominal Aortic Aneurysmatrial fibrillationAbnormality of the skeletal system
✦AI Summary

Based on limited published evidence, PLEKHJ1 is a pleckstrin homology domain-containing protein involved in endosomal trafficking and receptor recycling. Database annotations indicate roles in protein binding, endosome organization, early endosome function, recycling endosome dynamics, retrograde transport from endosomes to the Golgi, and trans-Golgi network organization. A transcriptomic study identified lncRNA-PLEKHJ1-1 as potentially interacting with apoptosis-related proteins in vascular endothelial cells exposed to hypoxia/re-oxygenation stress 1, though direct protein function characterization remains limited.

Sources cited
1
lncRNA-PLEKHJ1-1 identified as having potential protein-protein interactions with PHLDA1 in hypoxia/re-oxygenation-induced vascular endothelial cells
PMID: 32253839
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜18
coronary artery diseaseOpen Targets
0.07Suggestive
Abdominal Aortic AneurysmOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
aortic aneurysmOpen Targets
0.04Suggestive
hypertensionOpen Targets
0.04Suggestive
obesityOpen Targets
0.03Suggestive
alopecia areataOpen Targets
0.03Suggestive
morbid obesityOpen Targets
0.03Suggestive
overnutritionOpen Targets
0.03Suggestive
Crohn's diseaseOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
emphysemaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PHETA2Protein interaction90%PHETA1Protein interaction89%OCRLProtein interaction83%PLEKHA3Shared pathway75%TMEM87BShared pathway33%DENND2AShared pathway33%
Tissue Expression6 tissues
Liver
100%
Lung
72%
Ovary
65%
Bone Marrow
61%
Heart
52%
Brain
49%
Gene Interaction Network
Click a node to explore
PLEKHJ1PHETA2PHETA1OCRLPLEKHA3TMEM87BDENND2A
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9NW61
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.59LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.13 [0.81–1.59]
RankingsWhere PLEKHJ1 stands among ~20K protein-coding genes
  • #14,778of 20,598
    Most Researched18
  • #15,633of 17,882
    Most Constrained (LOEUF)1.59
Genes detectedPLEKHJ1
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Comparative transcriptomic analysis of vascular endothelial cells after hypoxia/re-oxygenation induction based on microarray technology.
PMID: 32253839
J Zhejiang Univ Sci B Β· 2020
1.00