# A Potential Role of EFR3A in Human Disease States

**Authors:** Karolina Marek-Bukowiec, Magdalena Trybus, Anita Hryniewicz-Jankowska, Aleksander Czogalla, Aleksander F. Sikorski

PMC · DOI: 10.3390/biom15040466 · Biomolecules · 2025-03-22

## TL;DR

This paper reviews the possible roles of the EFR3A protein in various human diseases like neurological, cardiovascular, and cancer-related conditions.

## Contribution

The paper compiles and summarizes existing knowledge about EFR3A's potential involvement in multiple disease states.

## Key findings

- EFR3A is involved in the localization of PI4KIIIα/PI4KA complex to the plasma membrane.
- EFR3A may influence G-protein-coupled receptor responsiveness.
- EFR3A is linked to neurological, cardiovascular, and neoplastic diseases.

## Abstract

EFR3A is a conserved peripheral membrane protein required for the plasma membrane localization of the phosphatidylinositol-4 kinase (PI4KIIIα/PI4KA) complex and for regulating the responsiveness of G-protein-coupled receptors. Additionally, it was implicated in several other potentially unrelated physiological functions. In metazoan organisms, EFR3A is ubiquitously co-expressed with its paralog EFR3B which shares similar biological roles. This brief review summarizes the current knowledge regarding the potential roles of EFR3A in human disease states, including neurological and cardiovascular disorders, as well as various neoplasia-based diseases.

## Linked entities

- **Genes:** EFR3A (EFR3 homolog A) [NCBI Gene 23167], EFR3B (EFR3 homolog B) [NCBI Gene 22979], Pi4KIIIalpha (Phosphatidylinositol 4-kinase III alpha) [NCBI Gene 31247], PI4KA (phosphatidylinositol 4-kinase alpha) [NCBI Gene 5297]

## Full-text entities

- **Genes:** EFR3B (EFR3 homolog B) [NCBI Gene 22979] {aka KIAA0953}, EFR3A (EFR3 homolog A) [NCBI Gene 23167], PI4KA (phosphatidylinositol 4-kinase alpha) [NCBI Gene 5297] {aka GIDID2, PI4K-ALPHA, PIK4CA, PMGYCHA, SPG84, pi4K230}
- **Diseases:** neoplasia (MESH:D009369), neurological and cardiovascular disorders (MESH:D002318)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12024565/full.md

## References

66 references — full list in the complete paper: https://tomesphere.com/paper/PMC12024565/full.md

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Source: https://tomesphere.com/paper/PMC12024565