Details for: LOC102723475

Gene ID: 102723475

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: LOC102723475

Ensembl ID: ENSG00000276289

Description: potassium voltage-gated channel subfamily E regulatory subunit 1B

Selected Context(s): 

Cell Significance Landscape

Contexts:

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • ciliated cell CL0000064
    CSI 5.27
    rCSI 8.54%
    PRS 99.97

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

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  • Node Color (Target Cell CSI, relative to current network):
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    • High
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    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [LOC102723475](/details-gene/102723475) is a protein-coding gene identified as a putative potassium voltage-gated channel regulatory subunit. Based on its expression profile, this gene shows highly significant and specific activity within [ciliated cells](/details-cell/CL0000064). This suggests a specialized role in modulating ion channel function, which is essential for the physiological processes governed by these cells, such as mucociliary clearance in the respiratory tract or fluid movement in other tissues. Its function is likely centered on fine-tuning cellular membrane potential and excitability in this specific cellular context. ## Cellular Roles and Expression Landscape The expression data points to a highly specialized role for [LOC102723475](/details-gene/102723475). **Overall**, the gene's expression is most significant in [ciliated cells](/details-cell/CL0000064) (CSI: 5.27), indicating it may serve as a key functional component or marker for this cell type. [Ciliated cells](/details-cell/CL0000064) are critical for motility-related functions in various organs, including the airways, brain ventricles, and reproductive tracts. The prominent expression of an ion channel subunit like [LOC102723475](/details-gene/102723475) in these cells is consistent with the need for precise electrochemical regulation to control ciliary beat frequency and coordinated movement. The provided data does not include information on cell types where this gene has low or no expression, which limits a full assessment of its cellular specificity. Furthermore, with data available for only a single context, it is not possible to determine if the gene's role is stable or dynamically regulated in response to different biological states. ## Pathways and Molecular Function While specific functional annotations from databases like Gene Ontology or Reactome are not provided, the gene's description as a "potassium voltage-gated channel subfamily E regulatory subunit 1B" provides strong clues to its molecular function. These subunits, often called beta-subunits, do not form channels on their own but co-assemble with pore-forming alpha-subunits. Their primary role is to modulate the gating kinetics, voltage sensitivity, and trafficking of the channel complex. Given its high significance in [ciliated cells](/details-cell/CL0000064), [LOC102723475](/details-gene/102723475) likely interacts with a specific potassium channel alpha-subunit to regulate the membrane potential of these cells. The regulation of ion flow, particularly K+, is a key determinant of ciliary beat frequency. Therefore, [LOC102723475](/details-gene/102723475) may be a critical component in the machinery that translates physiological signals into mechanical action (ciliary beating) by fine-tuning the cell's electrical properties. ## Research Directions The specific expression pattern and putative function of [LOC102723475](/details-gene/102723475) open up several avenues for investigation, particularly concerning its role in ciliary biology and related diseases. **Proposed Hypotheses:** 1. [LOC102723475](/details-gene/102723475) is essential for maintaining normal ciliary beat frequency in airway epithelial [ciliated cells](/details-cell/CL0000064). Loss-of-function mutations in this gene could contribute to the pathology of ciliopathies, such as primary ciliary dyskinesia (PCD), by disrupting ion homeostasis and impairing mucociliary clearance. 2. The expression or function of [LOC102723475](/details-gene/102723475) is dynamically regulated during respiratory infections or inflammatory conditions like asthma. Changes in its activity may represent an adaptive mechanism to alter ciliary function in response to pathological stimuli. **Key Experimental Approach:** To test the hypothesis that [LOC102723475](/details-gene/102723475) is critical for ciliary function, a robust experimental plan would involve genetic manipulation in a relevant model system. Specifically, one could use CRISPR-Cas9 to knock out [LOC102723475](/details-gene/102723475) in primary human bronchial epithelial cells grown in an air-liquid interface culture, which promotes differentiation into a pseudostratified epithelium containing abundant [ciliated cells](/details-cell/CL0000064). The functional consequences would be assessed by measuring ciliary beat frequency using high-speed video microscopy and quantifying mucociliary transport rates. Further, electrophysiological analysis via patch-clamp would reveal specific alterations in potassium currents, while co-immunoprecipitation followed by mass spectrometry could identify the specific alpha-subunit partners of [LOC102723475](/details-gene/102723475). **Therapeutic Potential:** As a regulatory subunit of an ion channel, [LOC102723475](/details-gene/102723475) could be a viable therapeutic target. If its dysfunction (e.g., loss-of-function) is linked to diseases like PCD or chronic obstructive pulmonary disease (COPD), it could be a target for small molecule activators or potentiators designed to restore normal channel activity and improve ciliary function. Conversely, if its overexpression contributes to pathology, selective inhibitors could be developed. Its apparent high specificity for [ciliated cells](/details-cell/CL0000064) is advantageous, as it may allow for targeted therapies with minimal off-target effects in other tissues.