Details for: C22orf42

Gene ID: 150297

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: C22orf42

Ensembl ID: ENSG00000205856

Description: chromosome 22 open reading frame 42

Cell Significance Landscape

Significant Cells

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

  • enteroendocrine cell CL0000164
    CSI 5.82
    rCSI 7.95%
    PRS 99.95
  • type B pancreatic cell CL0000169
    CSI 5.49
    rCSI 12.16%
    PRS 100

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 [C22orf42](/details-gene/150297) is a protein-coding gene located on chromosome 22q12.3, which encodes a currently uncharacterized protein. Its initial annotation arose from large-scale genome sequencing and annotation projects [Link](https://doi.org/10.1038/990031). Despite the lack of functional characterization, expression data reveals a highly specific profile. **Overall**, [C22orf42](/details-gene/150297) shows significant expression enrichment in specialized secretory cells, including [enteroendocrine cell](/details-cell/CL0000164)s of the gut and [type B pancreatic cell](/details-cell/CL0000169)s. This selective expression pattern strongly suggests a potential role in metabolic regulation, hormone synthesis, or secretion within the gastro-pancreatic endocrine system. ## Cellular Roles and Expression Landscape The biological role of [C22orf42](/details-gene/150297) remains poorly defined, but its expression landscape provides critical insights into its putative function. Analysis of the **Overall** biological context shows that the gene's expression is most significant in two key endocrine cell types: * **[enteroendocrine cell](/details-cell/CL0000164)** (CSI: 5.82) * **[type B pancreatic cell](/details-cell/CL0000169)** (CSI: 5.49) Both of these cell types are critical players in metabolic homeostasis. [Type B pancreatic cell](/details-cell/CL0000169)s (or beta cells) are responsible for synthesizing and secreting insulin in response to blood glucose levels. Similarly, [enteroendocrine cell](/details-cell/CL0000164)s are dispersed throughout the gastrointestinal tract and secrete a variety of hormones, such as glucagon-like peptide-1 (GLP-1), that regulate digestion and glucose metabolism. The specific and high-significance expression of [C22orf42](/details-gene/150297) in these functionally related, yet anatomically distinct, cell lineages suggests a conserved role in the specialized machinery of hormone production and/or secretion. ## Pathways and Molecular Function Formal functional annotations from databases such as Gene Ontology (GO) and Reactome are not available for [C22orf42](/details-gene/150297), which is consistent with its status as a largely uncharacterized open reading frame. However, based on its selective expression in professional secretory cells like pancreatic beta cells and enteroendocrine cells, its function may be related to one or more of the following processes: * Regulation of prohormone processing or peptide maturation. * Involvement in the biogenesis, trafficking, or exocytosis of secretory granules. * Participation in nutrient-sensing pathways that trigger hormone release. * Maintenance of the metabolic or functional identity of endocrine cells. Further research is required to elucidate the specific molecular activities of the C22orf42 protein and place it within established biological pathways. ## Research Directions The specific expression of [C22orf42](/details-gene/150297) in cells central to metabolic diseases, such as diabetes, makes it a compelling subject for further investigation. Its uncharacterized nature presents an opportunity to uncover novel mechanisms of endocrine cell function. ### Proposed Hypotheses 1. **[C22orf42](/details-gene/150297) is a crucial component of the insulin secretory pathway in [type B pancreatic cell](/details-cell/CL0000169)s, potentially regulating the docking or fusion of insulin-containing granules at the plasma membrane.** 2. **The protein encoded by [C22orf42](/details-gene/150297) functions in [enteroendocrine cell](/details-cell/CL0000164)s to modulate the secretion of incretin hormones like GLP-1, thereby influencing systemic glucose control.** ### Key Experimental Approach To test the hypothesis that [C22orf42](/details-gene/150297) is involved in insulin secretion, a targeted knockout (KO) could be generated in a human pancreatic beta cell line (e.g., EndoC-βH1) using CRISPR-Cas9 gene editing. The functional impact of the gene deletion would be assessed by comparing glucose-stimulated insulin secretion (GSIS) between KO and wild-type cells. Detailed cellular analysis using immunofluorescence and electron microscopy could then be employed to determine if the loss of [C22orf42](/details-gene/150297) affects insulin granule morphology, number, or localization within the cell. ### Therapeutic Potential Given its highly restricted expression in key metabolic regulatory cells, [C22orf42](/details-gene/150297) could emerge as a novel therapeutic target for metabolic disorders. If its protein product is found to positively regulate insulin or incretin secretion, it would represent a candidate target for small-molecule activators aimed at enhancing glucose control in type 2 diabetes. Conversely, should it be implicated in the pathophysiology of neuroendocrine tumors, it might serve as a target for inhibition. The viability of [C22orf42](/details-gene/150297) as a drug target is, however, entirely dependent on future characterization of its molecular function, regulation, and subcellular localization.

Genular Protein ID: 1093325472

Symbol: CV042_HUMAN

Name: Uncharacterized protein C22orf42

UniProtKB Accession Codes:

Q6IC83 A4QPH5

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 4 Ensembl 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MassIVE 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 jPOST 1 neXtProt 1

Citations:

PubMed ID: 15461802

Title: A genome annotation-driven approach to cloning the human ORFeome.

PubMed ID: 15461802

DOI: 10.1186/gb-2004-5-10-r84

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

Sequence Information:

  • Length: 251
  • Mass: 27691
  • Checksum: 3D7BB7582B375BFF
  • Sequence:
    • MGSKLTCCLG PSGGLNCDCC RPDVGPCHEC EIPETVAATA PASTTAKPAK LDLKAKKAQL 
MQYLSLPKTP KMLKMSKGLD ARSKRWLKII WRRHGIWPLE NIGPTEDVQA SAHGGVEENM 
TSDIEIPEAK HDHRPTEDVQ VSAHGGVEEN ITSDIEISEA KHDHHLVEDL SESLSVCLED 
FMTSDLSESL SVSLEDFMTS GLSESLSVSL EDLMTPEMAK ERYEDYLCWV KMARSRLNEP 
ISSQVLGLLR L