Details for: WDR49

Gene ID: 151790

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: WDR49

Ensembl ID: ENSG00000174776

Description: WD repeat domain 49

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • ependymal cell CL0000065
    CSI 35.12
    rCSI 71.25%
    PRS 77.97
  • macroglial cell CL0000126
    CSI 12.58
    rCSI 32.33%
    PRS 89.94
  • Bergmann glial cell CL0000644
    CSI 10.73
    rCSI 14.69%
    PRS 87.04
  • glioblast CL0000030
    CSI 10.07
    rCSI 16.06%
    PRS 86.81
  • innate lymphoid cell CL0001065
    CSI 8.8
    rCSI 18.16%
    PRS 87.53
  • choroid plexus epithelial cell CL0000706
    CSI 7.53
    rCSI 12.32%
    PRS 87.53
  • squamous epithelial cell CL0000076
    CSI 6.59
    rCSI 15.64%
    PRS 90.11
  • multi-ciliated epithelial cell CL0005012
    CSI 6.03
    rCSI 6.02%
    PRS 88.15
  • ciliated cell CL0000064
    CSI 4.4
    rCSI 7.12%
    PRS 87.73
  • alveolar macrophage CL0000583
    CSI 4.28
    rCSI 7.05%
    PRS 94.63
  • microglial cell CL0000129
    CSI 3.58
    rCSI 14.39%
    PRS 91.92
  • ciliated epithelial cell CL0000067
    CSI 3.42
    rCSI 3.01%
    PRS 85.73
  • astrocyte of the cerebral cortex CL0002605
    CSI 3.36
    rCSI 7.53%
    PRS 83.04
  • ionocyte CL0005006
    CSI 3.18
    rCSI 3.41%
    PRS 93.99
  • lung ciliated cell CL1000271
    CSI 2.98
    rCSI 3.45%
    PRS 88.59
  • respiratory basal cell CL0002633
    CSI 2.79
    rCSI 2.89%
    PRS 94.26
  • cardiac muscle cell CL0000746
    CSI 2.44
    rCSI 3.5%
    PRS 86.22
  • podocyte CL0000653
    CSI 2.13
    rCSI 9.45%
    PRS 93.4
  • ciliated columnar cell of tracheobronchial tree CL0002145
    CSI 1.91
    rCSI 4.36%
    PRS 87
  • regular atrial cardiac myocyte CL0002129
    CSI 1.7
    rCSI 5.47%
    PRS 90
  • basal cell of epidermis CL0002187
    CSI 1.55
    rCSI 2.75%
    PRS 66.97
  • deuterosomal cell CL4033044
    CSI 0.83
    rCSI 2.8%
    PRS 87.9
  • melanocyte of skin CL1000458
    CSI 0.81
    rCSI 1.11%
    PRS 66.94

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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Comma-separated if multiple.
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 [WDR49](/details-gene/151790) (WD repeat domain 49) is a protein-coding gene located on chromosome 3q26.1. Functional annotations suggest its protein product is involved in [calcium ion binding](/details-cell/GO:0005509) and [protein binding](/details-cell/GO:0005515), with a key localization to the [cilium](/details-cell/GO:0005929). **Overall**, expression data reveals that [WDR49](/details-gene/151790) is a highly significant gene in ciliated and glial cell populations, particularly within the central nervous system. Its exceptionally high significance in [ependymal cells](/details-cell/CL0000065) suggests it may serve as a defining marker for this cell type and play a crucial role in ciliary function related to cerebrospinal fluid circulation. ## Cellular Roles and Expression Landscape The expression profile of [WDR49](/details-gene/151790) highlights its specialized role in distinct cell lineages, primarily those characterized by the presence of cilia or those of glial origin. **Overall**, the gene demonstrates the highest significance in [ependymal cells](/details-cell/CL0000065) (CSI: 35.12), a value substantially greater than in other cell types, indicating a uniquely important function in the epithelial lining of the brain's ventricles. This is strongly supported by its high significance in multiple other ciliated cell types, including [multi-ciliated epithelial cells](/details-cell/CL0005012) (CSI: 6.03), [ciliated cells](/details-cell/CL0000064) (CSI: 4.40), and [lung ciliated cells](/details-cell/CL1000271) (CSI: 2.98). This consistent pattern across various tissues points to a conserved role for [WDR49](/details-gene/151790) in ciliary biology. A second major functional context is its expression within the central nervous system's glial compartment. [WDR49](/details-gene/151790) is significantly expressed in [macroglial cells](/details-cell/CL0000126) (CSI: 12.58), [Bergmann glial cells](/details-cell/CL0000644) (CSI: 10.73), [microglial cells](/details-cell/CL0000129) (CSI: 3.58), and [astrocytes of the cerebral cortex](/details-cell/CL0002605) (CSI: 3.36). Its notable significance in [glioblasts](/details-cell/CL0000030) (CSI: 10.07), a type of brain tumor cell, suggests a potential link to neuro-oncology. Notably, the absence of major hematopoietic lineages such as lymphocytes or structural cells like fibroblasts from the top-expressed list implies that the function of [WDR49](/details-gene/151790) is highly specific and not broadly required for general cellular maintenance. ## Pathways and Molecular Function The known functional annotations for [WDR49](/details-gene/151790) align closely with its observed cellular expression pattern. Its established localization to the [cilium](/details-cell/GO:0005929) provides a direct molecular basis for its high significance in the various ciliated epithelial cell types where it is prominently expressed, such as [ependymal cells](/details-cell/CL0000065) and [lung ciliated cells](/details-cell/CL1000271). Cilia are complex organelles involved in motility and sensory functions, and the presence of [WDR49](/details-gene/151790) within this structure is consistent with a role in its assembly, maintenance, or function. At the molecular level, [WDR49](/details-gene/151790) is annotated with functions for [protein binding](/details-cell/GO:0005515) and [calcium ion binding](/details-cell/GO:0005509). The WD40 repeat domain, which characterizes the protein family, typically acts as a scaffold for the assembly of protein complexes. This suggests [WDR49](/details-gene/151790) likely functions by mediating protein-protein interactions within the cilium. The calcium-binding capacity may indicate that its activity or the stability of the complexes it forms is regulated by intracellular calcium signaling, a common mechanism in ciliary motility and sensory transduction. ## Research Directions The specific expression pattern and molecular function of [WDR49](/details-gene/151790) suggest several avenues for future investigation, particularly regarding its role in neuropathology and ciliopathies. ### Proposed Hypotheses 1. **[WDR49](/details-gene/151790) is essential for the motility of ependymal cilia and the regulation of cerebrospinal fluid (CSF) flow.** The gene's top ranking in [ependymal cells](/details-cell/CL0000065) combined with its ciliary localization suggests that its disruption could lead to impaired CSF circulation, potentially contributing to conditions like hydrocephalus. 2. **[WDR49](/details-gene/151790) contributes to the pathogenesis of glioblastoma.** Its high significance in [glioblasts](/details-cell/CL0000030) indicates a possible role in tumor cell proliferation, survival, or signaling. It may be associated with primary cilia signaling, a pathway increasingly implicated in cancer biology. 3. **The calcium-binding function of [WDR49](/details-gene/151790) is critical for mechanosensory or chemosensory functions in cilia.** Its expression in diverse ciliated cells, including those in the lung, suggests it may be part of a calcium-dependent signaling cascade that responds to environmental cues. ### Key Experimental Approach To test the hypothesis that [WDR49](/details-gene/151790) is critical for CSF flow (Hypothesis 1), a targeted knockout of the [WDR49](/details-gene/151790) ortholog could be generated in a model organism such as zebrafish or mouse. The resulting phenotype could be analyzed using *in vivo* imaging techniques to measure ependymal ciliary beat frequency and fluorescent microbead tracking to quantify CSF flow dynamics within the brain ventricles. Histological analysis could assess ciliary structure and ependymal cell integrity. ### Therapeutic Potential The potential of [WDR49](/details-gene/151790) as a therapeutic target appears most relevant in the context of oncology. Given its high significance in [glioblasts](/details-cell/CL0000030) relative to many other cell types, it may represent a candidate target for glioblastoma treatment. If [WDR49](/details-gene/151790) is shown to be essential for tumor growth, its function as a protein-protein interaction scaffold makes it a plausible target for **inhibition** via small molecule drugs designed to disrupt the protein complexes it forms. Further research would be required to validate its role in glioblastoma pathology and to assess the on-target toxicity in other [WDR49](/details-gene/151790)-expressing cells, such as ciliated epithelia.