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GeneE
2 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.
POTEJ
POTE ankyrin domain family member J
Chromosome 2 Β· 2q21.1
NCBI Gene: 653781Ensembl: ENSG00000222038.4HGNC: HGNC:37094UniProt: P0CG39
46PubMed Papers
9Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
extracellular exosomeGO:0005615axonogenesiscell motilityneoplasmmaternally-inherited diabetes and deafnessCockayne syndrome type 1Athabaskan brainstem dysgenesis syndrome
✦AI Summary

Based on limited published evidence, POTEJ is a POTE ankyrin domain family member with predicted roles in cytoskeletal organization and cell signaling. GO annotations suggest involvement in actin cytoskeleton dynamics, axonogenesis, cell motility, and synapse formation, with localization to extracellular exosomes, axons, and the postsynaptic membrane. POTEJ is an ACTB-containing chimeric gene with C-terminal similarity to actin beta 1. In cancer biology, POTEJ expression was significantly higher in responders versus nonresponders to capivasertib (AKT inhibitor) in AKT1 E17K-mutated tumors, suggesting potential involvement in AKT pathway-related responses 2. However, direct functional characterization remains limited.

Sources cited
1
POTEJ is identified as an ACTB-containing chimeric gene with C-terminal sequence similarity to actin beta
PMID: 34966852
2
POTEJ expression was significantly elevated in capivasertib responders compared to nonresponders in AKT1 E17K-mutated tumors, suggesting correlation with therapeutic response
PMID: 40153687
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜9
Athabaskan brainstem dysgenesis syndromeOpen Targets
0.00Suggestive
Cockayne syndrome type 1Open Targets
0.00Suggestive
cone-rod dystrophy 13Open Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
maternally-inherited diabetes and deafnessOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
esophageal cancerOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
ACTBL2Shared pathway100%POTEIShared pathway100%POTEFShared pathway100%ACTL8Shared pathway75%POTEEShared pathway75%LRATD1Shared pathway25%
Tissue Expression6 tissues
Heart
0%
Bone Marrow
0%
Ovary
0%
Liver
0%
Brain
0%
Lung
0%
Gene Interaction Network
Click a node to explore
POTEJACTBL2POTEIPOTEFACTL8POTEELRATD1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt P0CG39
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.14Tolerant
Observed/Expected LoF0.45 [0.27–0.79]
RankingsWhere POTEJ stands among ~20K protein-coding genes
  • #9,364of 20,598
    Most Researched46
  • #6,517of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedPOTEJ
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Comprehensive Molecular and Genomic Analysis of NCI-MATCH Subprotocol Y: Capivasertib in Patients With an
PMID: 40153687
JCO Precis Oncol Β· 2025
1.00
2
ACTB and GAPDH appear at multiple SDS-PAGE positions, thus not suitable as reference genes for determining protein loading in techniques like Western blotting.
PMID: 34966852
Open Life Sci Β· 2021
0.50