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GeneE
7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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POTEI
POTE ankyrin domain family member I
Chromosome 2 · 2q21.1
NCBI Gene: 653269Ensembl: ENSG00000196834.14HGNC: HGNC:37093UniProt: P0CG38
35PubMed Papers
9Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomeGO:0005615axonogenesiscell motilityhearing lossneoplasmnon-small cell lung carcinomatriple-negative breast cancer
✦AI Summary

POTEI (POTE ankyrin domain family member I) is a structural protein with roles in cellular architecture and potential disease associations. As an ACTB-containing chimeric gene 1, POTEI shares sequence similarity with actin-binding proteins, consistent with its annotated function in actin cytoskeleton organization and postsynaptic structural components. The gene is expressed in tissues including the inner ear 2. Clinically, POTEI has been identified as a candidate gene for non-syndromic hearing impairment based on whole-exome sequencing in Ghanaian families, though functional validation is pending 2. Additionally, POTEI emerged as a biomarker in precision oncology: it was significantly upregulated in responders to capivasertib (AKT inhibitor) in patients with AKT1 E17K-mutated tumors, suggesting potential predictive value for treatment response in specific malignancies 3. POTEI also appeared in gene expression studies of low-dose radiation responses in human coronary artery endothelial cells, indicating involvement in radiation-induced cellular responses 4. These findings suggest POTEI functions in structural cellular processes and may serve as a biomarker in both hearing impairment and oncology contexts, though further functional characterization is needed to establish definitive molecular mechanisms.

Sources cited
1
POTEI is an ACTB-containing chimeric gene with C-terminal protein sequence similarity to ACTB
PMID: 34966852
2
POTEI is a novel candidate gene for non-syndromic hearing impairment identified through exome sequencing in Ghanaian families and is expressed in mouse inner ear
PMID: 35440622
3
POTEI was significantly higher in responders to capivasertib compared to nonresponders in AKT1 E17K-mutated tumors
PMID: 40153687
4
POTEI appeared as a radiation dose-specific gene profile in response to low-dose ionizing radiation in human coronary artery endothelial cells
PMID: 38489594
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ9
hearing lossOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
non-small cell lung carcinomaOpen Targets
0.00Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
Waardenburg syndromeOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
thromboangiitis obliteransOpen Targets
0.00Suggestive
Hereditary breast cancerOpen Targets
0.00Suggestive
hereditary breast carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACTBL2Shared pathway100%POTEFShared pathway100%POTEJShared pathway100%ACTL8Shared pathway75%POTEEShared pathway75%LRATD1Shared pathway25%
Tissue Expression6 tissues
Ovary
100%
Brain
63%
Liver
50%
Lung
50%
Bone Marrow
25%
Heart
0%
Gene Interaction Network
Click a node to explore
POTEIACTBL2POTEFPOTEJACTL8POTEELRATD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P0CG38
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.12LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.68 [0.43–1.12]
RankingsWhere POTEI stands among ~20K protein-coding genes
  • #11,042of 20,598
    Most Researched35
  • #11,607of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedPOTEI
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Comprehensive Molecular and Genomic Analysis of NCI-MATCH Subprotocol Y: Capivasertib in Patients With an
PMID: 40153687
JCO Precis Oncol · 2025
1.00
2
Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.
PMID: 35440622
Commun Biol · 2022
0.86
3
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 · 2021
0.71
4
Distinguish response of low-dose radiation with different dose-rate on gene expression of human coronary artery endothelial cells: a bioinformatic study based on transcriptomic sequencing.
PMID: 38489594
Int J Radiat Biol · 2024
0.57
5
Primary pseudomyogenic haemangioendothelioma of the testis with a novel POTEI::FOSB gene fusion.
PMID: 35582841
Histopathology · 2022
0.43