Details for: IGHD5 12

Gene ID: 28491

Symbol: IGHD5 12

Ensembl ID: ENSG00000211921

Description: immunoglobulin heavy diversity 5-12

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.01
    Marker Score: 8
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 0.01
    Marker Score: 8

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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: 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 Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** IGHD5-12 exhibits several key characteristics that make it an essential component of the immune system: 1. **Gene structure**: IGHD5-12 is a single-copy gene that is part of the IGHD family, which consists of multiple genes that contribute to the diversity of IgH chains. 2. **Expression pattern**: IGHD5-12 is significantly expressed in precursor B cells and double-negative thymocytes, indicating its role in the development and maturation of these immune cells. 3. **Function**: IGHD5-12 is involved in the somatic hypermutation and class switch recombination processes, which are critical for the generation of antibody diversity. 4. **Evolutionary conservation**: IGHD5-12 has been conserved across species, suggesting its importance in the evolution of the immune system. **Pathways and Functions** IGHD5-12 is involved in several key pathways that contribute to the diversity of immunoglobulins: 1. **Somatic hypermutation**: IGHD5-12 is involved in the somatic hypermutation process, which introduces point mutations into the IgH locus, leading to the generation of antibody diversity. 2. **Class switch recombination**: IGHD5-12 is also involved in the class switch recombination process, which allows the immune system to switch from producing IgM to producing IgG, IgA, or IgE antibodies. 3. **Immunoglobulin heavy chain class switching**: IGHD5-12 is responsible for the class switching of IgH chains, which allows the immune system to produce a diverse range of antibodies. **Clinical Significance** IGHD5-12 has significant clinical implications, particularly in the context of immunodeficiency disorders: 1. **Immunodeficiency diseases**: Mutations in IGHD5-12 can lead to immunodeficiency diseases, such as X-linked agammaglobulinemia (XLA), which is characterized by a lack of functional B cells and antibodies. 2. **Autoimmune diseases**: Dysregulation of IGHD5-12 can contribute to autoimmune diseases, such as rheumatoid arthritis and lupus, which are characterized by the production of autoantibodies. 3. **Cancer immunotherapy**: IGHD5-12 has been identified as a potential target for cancer immunotherapy, as it is involved in the generation of antibody diversity and can be exploited to enhance anti-tumor immune responses. In conclusion, IGHD5-12 is a critical component of the immune system that plays a vital role in the generation of antibody diversity. Its dysregulation can contribute to immunodeficiency diseases, autoimmune diseases, and cancer. Further research into the mechanisms of IGHD5-12 will provide valuable insights into the development of novel therapeutic strategies for these diseases.

Database document:

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