Details for: C2CD4D

Gene ID: 100191040

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: C2CD4D

Ensembl ID: ENSG00000225556

Description: C2 calcium dependent domain containing 4D

Cell Significance Landscape

Significant Cells

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

  • group 3 innate lymphoid cell CL0001071
    CSI 10.13
    rCSI 7.61%
    PRS 99.98

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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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 [C2CD4D](/details-gene/100191040), or *C2 calcium dependent domain containing 4D*, is a protein-coding gene located on human chromosome 1q21.3. Its characterization has been supported by large-scale cDNA and genome sequencing projects [Link](https://doi.org/10.1038/ng1285) [Link](https://doi.org/10.1038/nature04727). The encoded protein contains a C2 domain, a motif typically involved in calcium-dependent phospholipid binding and signal transduction. Expression data indicates a highly specific and significant role for [C2CD4D](/details-gene/100191040) within the immune system, where it shows remarkable enrichment in [group 3 innate lymphoid cell](/details-cell/CL0001071). This restricted expression pattern suggests a specialized function related to the unique biology of this innate immune cell subset. ## Cellular Roles and Expression Landscape The expression profile of [C2CD4D](/details-gene/100191040) is defined by its pronounced significance in a specific immune cell population. * **Immune System Specificity:** **Overall**, the gene's most significant expression is observed in [group 3 innate lymphoid cell](/details-cell/CL0001071) (ILC3s), with a Cell Significance Index (CSI) of 10.13. ILC3s are critical mediators of mucosal immunity, particularly in the gut, where they contribute to barrier integrity, defense against extracellular pathogens, and lymphoid tissue organogenesis. The high CSI score suggests that [C2CD4D](/details-gene/100191040) may be a key functional component or a defining marker for this cell lineage. The specific functional contribution of the gene within ILC3s remains to be elucidated, but its C2 domain implies a role in calcium-mediated cellular processes. The initial identification of the [C2CD4D](/details-gene/100191040) transcript was part of the Mammalian Gene Collection (MGC) project, which aimed to create a comprehensive library of full-length human cDNAs [Link](https://doi.org/10.1101/gr.2596504). However, its specific cellular expression patterns and functional roles have not been extensively studied since. ## Pathways and Molecular Function While detailed functional annotations for [C2CD4D](/details-gene/100191040) are not available, its protein structure provides clues to its potential molecular function. The presence of a C2 domain is a strong indicator of involvement in calcium-dependent signaling. C2 domains are well-characterized protein modules that act as Ca2+ sensors, often translocating to cellular membranes in response to increases in intracellular calcium concentration. Given its high expression in [group 3 innate lymphoid cell](/details-cell/CL0001071), the function of [C2CD4D](/details-gene/100191040) is likely tied to key ILC3 activities that are known to be calcium-dependent. This could include: * **Cytokine Secretion:** ILC3s are major producers of IL-17 and IL-22. The machinery for vesicle trafficking and exocytosis required for cytokine release is a calcium-regulated process. [C2CD4D](/details-gene/100191040) may act as a calcium sensor that facilitates the fusion of cytokine-containing vesicles with the plasma membrane. * **Signal Transduction:** It may function as an adaptor or scaffolding protein, recruiting other signaling molecules to the membrane upon activation of cell surface receptors, such as the IL-23 receptor, which is critical for ILC3 function. ## Research Directions The highly specific expression of [C2CD4D](/details-gene/100191040) in [group 3 innate lymphoid cell](/details-cell/CL0001071) provides a strong foundation for targeted functional investigation. Understanding its role could offer new insights into ILC3 biology and their involvement in health and disease. **Proposed Hypotheses:** 1. [C2CD4D](/details-gene/100191040) is essential for the calcium-dependent production and/or secretion of effector cytokines (e.g., IL-22, IL-17A) by ILC3s following stimulation by activating signals like IL-23. 2. The C2CD4D protein localizes to the plasma membrane upon ILC3 activation and is required for the proper assembly of signaling complexes downstream of key cytokine or pattern recognition receptors. **Experimental Approach:** To test the first hypothesis, a loss-of-function study could be performed. This would involve using CRISPR-Cas9 or shRNA to knock down [C2CD4D](/details-gene/100191040) expression in primary human ILC3s isolated from peripheral blood or tonsillar tissue. Control and knockdown cells would then be stimulated *in vitro* with a cocktail of IL-23 and IL-1β. The functional readout would be the quantification of IL-22 and IL-17A in the culture supernatant by ELISA and analysis of cytokine-producing cells by intracellular flow cytometry. A significant reduction in cytokine secretion in the [C2CD4D](/details-gene/100191040)-deficient ILC3s would confirm its role in this key effector function. **Therapeutic Potential:** Given that ILC3s are implicated in the pathology of inflammatory diseases such as inflammatory bowel disease (IBD) and psoriasis through their production of pro-inflammatory cytokines, [C2CD4D](/details-gene/100191040) represents a potential therapeutic target. Its high specificity for ILC3s suggests that its **inhibition** could selectively dampen the pathogenic activity of these cells with fewer off-target effects than broadly acting immunosuppressants. As it is likely an intracellular signaling protein, it would be a suitable target for small molecule inhibitors designed to disrupt its calcium-binding or protein-interaction functions.

Genular Protein ID: 2459516412

Symbol: C2D4D_HUMAN

Name: C2 calcium-dependent domain-containing protein 4D

UniProtKB Accession Codes:

B7Z1M9 B2RXG8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 DNASU 1 EMBL 4 Ensembl 3 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 InterPro 3 KEGG 1 MANE-Select 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 3 SMART 1 SMR 1 STRING 1 SUPFAM 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

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: 353
  • Mass: 37583
  • Checksum: 890A6E57505B10A4
  • Sequence:
    • MWLLEKAGYK VGAAEPAARW APSGLFSKRR APGPPTSACP NVLTPDRIPQ FFIPPRLPDP 
GGAVPAARRH VAGRGLPATC SLPHLAGREG WAFLPESPHT RRRESLFHGP PPAPAGGLPA 
AQSRLHVSAP DLRLCRAPDS DTASSPDSSP FGSPRPGLGR RRVSRPHSLS PEKASSADTS 
PHSPRRAGPP TPPLFHLDFL CCQLRPTRES VLRLGPRGGQ LRLSTEYQAG PGRLRLRLVS 
AEGLPRPRSR PGSGGGGCCV VLRLRPRVRP REQQSRVVKC SANPIFNEDF FFDGLGPPDL 
AARSLRAKVL DRGAGLRRDV LLGECETPLI ALLPPLGGGL GPGSSLAPTH LSL