Details for: CASC17

Gene ID: 101928165

Gene Type:  ncRNA (Non-coding RNA)  - A functional RNA molecule that is transcribed from DNA but not translated into a protein. Includes classes like miRNA and lncRNA.

Symbol: CASC17

Ensembl ID: ENSG00000260785

Description: cancer susceptibility 17

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Significant Cells

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

  • Mueller cell CL0000636
    CSI 4.42
    rCSI 10.09%
    PRS 99.73
  • astrocyte of the cerebral cortex CL0002605
    CSI 2.93
    rCSI 6.57%
    PRS 99.65

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

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • 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 [CASC17](/details-gene/101928165) (Cancer Susceptibility 17) is a long non-coding RNA (lncRNA) located on chromosome 17q24.3. While its name suggests a role in cancer, current expression data points towards a highly specific function within the central nervous system. **Overall** expression analysis indicates that [CASC17](/details-gene/101928165) is a significant marker for specialized glial cell populations, particularly [Mueller cell](/details-cell/CL0000636) in the retina and [astrocyte of the cerebral cortex](/details-cell/CL0002605), suggesting a potential role in neuronal support, retinal homeostasis, and brain function. ## Cellular Roles and Expression Landscape The expression pattern of [CASC17](/details-gene/101928165) suggests a highly specialized role confined to glial cells of the nervous system. The most significant expression is observed in [Mueller cell](/details-cell/CL0000636) (CSI: 4.42), the principal glial cell of the vertebrate retina responsible for maintaining structural and functional stability. This is complemented by its high significance in [astrocyte of the cerebral cortex](/details-cell/CL0002605) (CSI: 2.93), which are crucial for synaptic function, metabolic support, and maintaining the blood-brain barrier. The prominent and specific expression in these two cell types indicates that [CASC17](/details-gene/101928165) is likely involved in fundamental glial cell identity or function, rather than being broadly expressed. The absence of other cell types in the top-expressed list further underscores its tissue-restricted profile. ## Pathways and Molecular Function The precise molecular function and associated pathways for [CASC17](/details-gene/101928165) are currently uncharacterized. As a long non-coding RNA, it is plausible that it functions as a regulator of gene expression at the epigenetic, transcriptional, or post-transcriptional level. Given its specific expression in [Mueller cell](/details-cell/CL0000636) and [astrocyte of the cerebral cortex](/details-cell/CL0002605), [CASC17](/details-gene/101928165) may modulate the expression of genes critical for glial functions such as glutamate recycling, ion homeostasis, metabolic support for neurons, or cellular responses to injury and stress (gliosis). ## Research Directions The highly specific expression of [CASC17](/details-gene/101928165) in key glial populations presents several avenues for future investigation, particularly concerning neurological and retinal diseases where glial dysfunction is a central pathological feature. ### Proposed Hypotheses 1. **[CASC17](/details-gene/101928165) is a key regulator of Mueller cell function and its dysregulation contributes to retinal pathologies.** Given its top expression in [Mueller cell](/details-cell/CL0000636), altered levels of this lncRNA could drive reactive gliosis, a common feature in diseases like diabetic retinopathy and age-related macular degeneration, by modulating stress-response gene networks. 2. **[CASC17](/details-gene/101928165) plays a role in astrocyte-mediated neuroprotection in the cerebral cortex.** Its expression in [astrocyte of the cerebral cortex](/details-cell/CL0002605) may be essential for maintaining synaptic integrity or blood-brain barrier function, suggesting that its loss or gain of function could be implicated in neurodegenerative disorders or recovery from ischemic injury. ### Key Experiments To test the hypothesis that [CASC17](/details-gene/101928165) is critical for Mueller cell function, a loss-of-function study could be performed. Antisense oligonucleotides (ASOs) or CRISPRi could be used to specifically knock down [CASC17](/details-gene/101928165) in human induced pluripotent stem cell (iPSC)-derived retinal organoids. The impact of the knockdown could be assessed by single-cell RNA sequencing to identify downstream gene expression changes, and functional assays could measure the organoids' response to metabolic or oxidative stress, with a focus on gliosis markers (e.g., GFAP) and neuronal health. ### Therapeutic Potential As a lncRNA with a highly restricted expression pattern, [CASC17](/details-gene/101928165) could represent an attractive therapeutic target. If found to drive pathogenic processes like reactive gliosis, it would be a candidate for inhibition. Therapeutic modalities such as ASOs, which can be designed for high specificity, could be employed. The targeted delivery of such therapies to the retina (e.g., via intravitreal injection) or brain remains a challenge, but the specificity of [CASC17](/details-gene/101928165) expression to glial cells might minimize off-target effects in other tissues, increasing its potential safety profile.