Details for: CCDC196

Gene ID: 440184

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: CCDC196

Ensembl ID: ENSG00000196553

Description: coiled-coil domain containing 196

Cell Significance Landscape

Significant Cells

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

  • direct pathway medium spiny neuron CL4023026
    CSI 0.39
    rCSI 9.27%
    PRS 99.42
  • indirect pathway medium spiny neuron CL4023029
    CSI 0.36
    rCSI 8.79%
    PRS 99.38

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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  • Node Color (Target Cell CSI, relative to current network):
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    • 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 **[CCDC196](/details-gene/440184)** (Coiled-Coil Domain Containing 196) is a protein-coding gene located on chromosome 14q23.3. Based on expression data, **[CCDC196](/details-gene/440184)** appears to be a highly specialized gene with significant and specific expression in neuronal subtypes of the basal ganglia. Its prominence in both **[direct pathway medium spiny neuron](/details-cell/CL4023026)** and **[indirect pathway medium spiny neuron](/details-cell/CL4023029)** suggests a fundamental role in the biology of these cells, which are critical for motor control, procedural learning, and reward-based decision-making. The function of the protein remains poorly characterized, but its coiled-coil domain implies a potential role in forming protein-protein interaction networks essential for neuronal structure or signaling. ## Cellular Roles and Expression Landscape The expression profile of **[CCDC196](/details-gene/440184)** indicates a highly restricted cellular role, primarily within the central nervous system. In the **Overall** context, its expression is most significant in two key neuronal populations of the striatum: * **[direct pathway medium spiny neuron](/details-cell/CL4023026)** (CSI: 0.39) * **[indirect pathway medium spiny neuron](/details-cell/CL4023029)** (CSI: 0.36) These two cell types form the basis of the direct and indirect pathways of the basal ganglia, which work in opposition to facilitate or suppress motor output, respectively. The high significance of **[CCDC196](/details-gene/440184)** in both populations suggests it is not a marker of a specific pathway but rather a core component integral to the general identity or function of medium spiny neurons (MSNs). The provided dataset does not contain information on cell types where the gene is lowly expressed, limiting a broader analysis of its tissue specificity. ## Pathways and Molecular Function Functional annotation data for **[CCDC196](/details-gene/440184)** were not available in the provided dataset, indicating its molecular roles are not yet well-defined. The gene's name suggests the encoded protein contains at least one coiled-coil domain. This structural motif is well-known for mediating protein-protein interactions, suggesting that **[CCDC196](/details-gene/440184)** may function as part of a larger protein complex. Given its specific expression in striatal neurons, its molecular function is likely integrated into processes unique to these cells, such as dopamine signaling, synaptic regulation, or the maintenance of dendritic spine architecture. ## Research Directions The highly specific expression of **[CCDC196](/details-gene/440184)** in medium spiny neurons makes it a compelling subject for neurobiological research, particularly in the context of basal ganglia disorders. **Proposed Testable Hypotheses:** 1. **[CCDC196](/details-gene/440184)** is essential for the proper development, dendritic arborization, or long-term viability of medium spiny neurons. Its loss-of-function could impair the formation of striatal circuits or render these neurons more vulnerable to cellular stress, contributing to neurodegeneration. 2. The **[CCDC196](/details-gene/440184)** protein acts as a scaffold that modulates signaling downstream of dopamine receptors (D1 or D2). It may organize specific signaling complexes that are necessary for the distinct physiological responses of the direct and indirect pathways to dopamine release. **Key Experimental Approach:** To test the hypothesis that **[CCDC196](/details-gene/440184)** is critical for MSN survival and function, a robust experimental plan would involve the use of a conditional knockout mouse model. Specifically, generating a mouse line where **[CCDC196](/details-gene/440184)** is selectively deleted in dopamine receptor D1- and D2-expressing neurons (using a Cre-Lox system) would provide precise insight into its role. The resulting animals could then be subjected to behavioral testing to assess motor learning and coordination, followed by post-mortem analysis of the striatum using immunohistochemistry to quantify MSN numbers and morphology, and slice electrophysiology to measure synaptic function and excitability. **Therapeutic Potential:** Given that medium spiny neurons are the primary cells affected in neurodegenerative disorders such as Huntington's disease, **[CCDC196](/details-gene/440184)** represents a potential, albeit speculative, therapeutic target. If future research demonstrates a neuroprotective or pro-survival function, strategies aimed at the **activation** of **[CCDC196](/details-gene/440184)** or its downstream pathways could be explored for treating these conditions. Conversely, if its aberrant expression or function contributes to neuronal dysfunction, its high cellular specificity would make it an attractive target for **inhibition** via RNA-based therapeutics, potentially minimizing off-target effects in the brain.