Details for: C14orf28

Gene ID: 122525

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: C14orf28

Ensembl ID: ENSG00000179476

Description: chromosome 14 open reading frame 28

Cell Significance Landscape

Significant Cells

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

  • microcirculation associated smooth muscle cell CL0008035
    CSI 1.06
    rCSI 3.08%
    PRS 99.75

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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  • 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 [C14orf28](/details-gene/122525) is a protein-coding gene located on chromosome 14q21.2. The protein it encodes is currently uncharacterized, and its molecular function remains largely unknown [Link](https://doi.org/10.1101/gr.2596504). Gene expression analysis indicates a significant and specific role within the vasculature, with its expression being a notable characteristic of [microcirculation associated smooth muscle cells](/details-cell/CL0008035). This suggests a potential involvement in the regulation of microvascular structure or function. ## Cellular Roles and Expression Landscape The expression profile of [C14orf28](/details-gene/122525) points towards a specialized role in the circulatory system. **Overall**, the gene shows its most significant expression in [microcirculation associated smooth muscle cells](/details-cell/CL0008035) (CSI: 1.06). These cells are critical for regulating blood flow and pressure in arterioles and venules. The notable expression of [C14orf28](/details-gene/122525) in this specific cell type suggests it may contribute to key physiological processes such as vascular tone, contractility, or the structural integrity of the microvasculature. The expression pattern in other cell types and the breadth of its specificity across different tissues have not yet been fully characterized. ## Pathways and Molecular Function Currently, there is no functional annotation available for [C14orf28](/details-gene/122525). The biological pathways and specific molecular activities it participates in are unknown. Based on its primary expression in [microcirculation associated smooth muscle cells](/details-cell/CL0008035), it is plausible that its function is related to smooth muscle biology, such as calcium signaling, cytoskeletal dynamics, or cell-cell adhesion within the vessel wall. Elucidation of its interacting partners and subcellular localization will be critical first steps in defining its role. ## Research Directions The uncharacterized nature of [C14orf28](/details-gene/122525), combined with its specific expression profile, makes it a compelling subject for further investigation. **Proposed Hypotheses:** 1. [C14orf28](/details-gene/122525) is a modulator of contractile function in [microcirculation associated smooth muscle cells](/details-cell/CL0008035), potentially by interacting with components of the actin-myosin cytoskeleton or regulating intracellular calcium levels. 2. The expression of [C14orf28](/details-gene/122525) is dynamically regulated in response to hemodynamic stress or vasoactive stimuli, suggesting a role in the adaptive response of the microvasculature to physiological changes. **Key Experiments:** To test the hypothesis that [C14orf28](/details-gene/122525) modulates smooth muscle contractility, a loss-of-function study could be performed. Using CRISPR-Cas9 to knock out the gene in a human vascular smooth muscle cell line or in primary cells, one could then assess the impact on cellular contractility using assays such as collagen gel contraction. Changes in the organization of the actin cytoskeleton could be visualized via immunofluorescence, and alterations in signaling pathways could be measured by phosphoproteomics following stimulation with agonists like angiotensin II or endothelin-1. **Therapeutic Potential:** Given that its function is unknown, it is premature to define the therapeutic potential of [C14orf28](/details-gene/122525). However, if it is validated as a key regulator of microvascular tone, it could represent a novel target for diseases characterized by microcirculatory dysfunction, such as hypertension, diabetic microangiopathy, or sepsis. Depending on its mechanism, both inhibition (for vasorelaxation) or activation (for vasoconstriction) could be therapeutically relevant, but this requires a foundational understanding of its molecular role.

Genular Protein ID: 2766077661

Symbol: CN028_HUMAN

Name: Uncharacterized protein C14orf28

UniProtKB Accession Codes:

Q4W4Y0

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 1 ExpressionAtlas 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 InterPro 1 KEGG 1 MANE-Select 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 RNAct 1 RefSeq 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 310
  • Mass: 36306
  • Checksum: 7D0F7A0CE6AFE26B
  • Sequence:
    • MKTLFEEIKA SIKNNYNQDR SFCRPVLPWG GVFTIKAGRK AVSCTPLYVE IRLKNTCTID 
GFLMLLYVIL NENENFPREL SLHFGREFVD CFLYLMDTYS FTTVKLLWIW DKMEKQQYKS 
EVHKASLIID LFGNEHDNFT KNLENLMSTI QESYCSNWRC PTRVQEDQQR TININPPQEI 
PHGNLIRLAV NELFCSKIEL CEEHGCGGLR EFSQRIFCHG APPFVVLNMQ HWKSEDLAYV 
PYYLDLSDHK YLLEGATLFN KEEHHYSAAF QIGGHWMHYD GLRNVNLILL NKPPEFLLLS 
SLVYIRATEK