Details for: IGKV1 8

Gene ID: 28942

Gene Type:  Other  - A known gene or region type that lacks a specific category. Includes immunoglobulin (Ig), T-cell receptor (TCR) gene segments, and repetitive elements.

Symbol: IGKV1 8

Ensembl ID: ENSG00000240671

Description: immunoglobulin kappa variable 1-8

Selected Context(s):  Overall

Cell Significance Landscape

Contexts:

Associated with

Significant Cells

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

  • IgA plasma cell CL0000987
    CSI 3.57
    rCSI 3.66%
    PRS 98.56

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 Size: Proportional to Target Cell CSI magnitude
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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 [IGKV1 8](/details-gene/28942) is a gene segment belonging to the immunoglobulin kappa variable (IGKV) family, located on chromosome 2. Its primary function is to encode a portion of the variable region of the antibody kappa light chain. As a critical component of the adaptive immune system, [IGKV1 8](/details-gene/28942) undergoes V(J) recombination to contribute to the vast diversity of antigen-binding sites on B-cell receptors and secreted antibodies. Expression analysis indicates that it is a highly significant gene in specialized antibody-producing cells, most notably [IgA plasma cell](/details-cell/CL0000987), underscoring its essential role in humoral immunity. ## Cellular Roles and Expression Landscape The expression of [IGKV1 8](/details-gene/28942) is tightly restricted to the B-cell lineage, where it plays a fundamental role in generating the antibody repertoire. - **Primary Cellular Context:** **Overall** data highlights the gene's paramount importance in terminally differentiated B-cells. It shows a high Cell Significance Index (CSI: 3.57) in [IgA plasma cell](/details-cell/CL0000987), which are specialized factories for the production and secretion of Immunoglobulin A (IgA) antibodies. This high significance is consistent with the gene's function, as it provides a key building block for the light chains that pair with IgA heavy chains. - **Expression Specificity:** While direct negative data is not provided, the specialized function of [IGKV1 8](/details-gene/28942) in V(J) recombination implies that its expression is confined to developing and mature B-lymphocytes. Its expression is expected to be absent in non-hematopoietic cell types such as neurons, epithelial cells, and muscle cells, making it a highly specific marker of the B-cell lineage. ## Pathways and Molecular Function The function of [IGKV1 8](/details-gene/28942) is intrinsically linked to the generation of immune diversity and antigen recognition. - **Biological Processes:** As annotated by the Gene Ontology, [IGKV1 8](/details-gene/28942) is a central participant in the *Adaptive immune response* ([GO:0002250](https://www.ebi.ac.uk/QuickGO/term/GO:0002250)) and the broader *Immune response* ([GO:0006955](https://www.ebi.ac.uk/QuickGO/term/GO:0006955)). Its role is executed through somatic recombination, where this V (variable) gene segment is joined with a J (joining) segment to form a unique and functional light chain variable domain. - **Cellular Components:** The protein sequence encoded by [IGKV1 8](/details-gene/28942) becomes part of the *Immunoglobulin complex* ([GO:0019814](https://www.ebi.ac.uk/QuickGO/term/GO:0019814)). This complex can be anchored to the *Plasma membrane* ([GO:0005886](https://www.ebi.ac.uk/QuickGO/term/GO:0005886)) of a B-cell, functioning as the B-cell receptor (BCR), or it can be secreted by a [plasma cell](/details-cell/CL0000987) as a soluble antibody. ## Research Directions The specific role of [IGKV1 8](/details-gene/28942) in health and disease, particularly concerning the biases in its usage within the antibody repertoire, presents several avenues for investigation. - **Comparative Analysis:** Alterations in the frequency of [IGKV1 8](/details-gene/28942) usage could be a key feature of certain pathologies. For example, comparing the immunoglobulin repertoires in healthy individuals versus patients with autoimmune diseases (e.g., IgA nephropathy) or B-cell malignancies (e.g., multiple myeloma) could reveal disease-specific signatures involving this gene segment. - **Testable Hypotheses:** 1. The preferential usage and specific somatic hypermutation patterns of the [IGKV1 8](/details-gene/28942) segment are associated with the production of pathogenic autoantibodies in IgA-mediated autoimmune diseases, serving as a potential biomarker for disease activity. 2. In certain B-cell malignancies, a dominant malignant clone may be identified by a unique V-J rearrangement involving [IGKV1 8](/details-gene/28942), making this specific rearrangement a highly sensitive and specific marker for monitoring minimal residual disease (MRD). - **Suggested Experimental Approach:** To test the second hypothesis, B-cell receptor (BCR) repertoire sequencing could be performed on bone marrow or peripheral blood samples from patients with B-cell lymphomas at the time of diagnosis and at multiple time points following treatment. By using high-throughput sequencing to profile the IGK locus, one could identify and quantify the frequency of specific rearrangements utilizing [IGKV1 8](/details-gene/28942). The persistence or re-emergence of a dominant [IGKV1 8](/details-gene/28942)-containing clonotype post-therapy would validate its utility as a personalized MRD marker, potentially offering earlier detection of relapse than conventional methods. - **Therapeutic Potential:** [IGKV1 8](/details-gene/28942) itself is not a direct therapeutic target. However, the unique antigen-binding site (idiotype) it helps to form on a malignant B-cell clone represents an ideal target for personalized medicine. If a lymphoma or myeloma is defined by a surface-expressed antibody using a specific [IGKV1 8](/details-gene/28942) rearrangement, therapies such as anti-idiotype antibodies, antibody-drug conjugates, or CAR-T cells engineered to recognize this specific BCR could be developed. Such a strategy would target the malignant cells with high precision, likely leading to the destruction of the cancerous clone while sparing healthy B-cells.