IL7 Gene - Interleukin 7: Function, Disease Associations, and Expression
Comprehensive biomedical overview of the IL7 gene, including genomic context, protein function, tissue expression, and clinical significance.
Gene Information Card
| Symbol | IL7 |
|---|---|
| Full Name | Interleukin 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 8q21.13 |
| NCBI Gene ID | 3574 ncbi.nlm.nih.gov/gene/3574 |
| Ensembl ID | ENSG00000104432 |
| UniProt ID | P13232 |
| OMIM ID | 146660 |
| HGNC ID | 6015 |
| Aliases | IL-7 |
Description
The IL7 gene encodes a hematopoietic growth factor, Interleukin-7 (IL-7), which is a cytokine crucial for the development and homeostasis of immune cells, particularly T and B lymphocytes. This secreted protein signals through the IL-7 receptor (IL-7R) complex, which includes the IL-7R alpha chain (CD127) and the common gamma chain (γc, CD132). IL-7 is essential for early lymphoid development, promoting the survival, proliferation, and differentiation of lymphoid progenitor cells. It also plays a critical role in the maintenance and function of mature T cells. Dysregulation of IL-7 signaling is implicated in various conditions, including severe combined immunodeficiency (SCID), autoimmune diseases, and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Severe Combined Immunodeficiency (SCID) | Autosomal recessive mutations in the IL7 gene lead to a lack of functional IL-7 protein, resulting in impaired T-cell and B-cell development. This causes a profound deficiency in the adaptive immune system, leaving individuals highly susceptible to recurrent, severe infections. | OMIM 146660; PubMed: 10973254 |
| Multiple Sclerosis (MS) | Genetic variations in the IL7 gene and its receptor (IL7R) have been associated with increased susceptibility to MS. The mechanism is thought to involve altered IL-7 signaling, which can affect the homeostasis and function of autoreactive T cells, contributing to the autoimmune attack on the central nervous system. | OMIM 146660; PubMed: 17660818 |
| Rheumatoid Arthritis (RA) | Elevated levels of IL-7 have been found in the synovial fluid and tissue of patients with RA. IL-7 is believed to contribute to the inflammatory process by promoting the survival and activation of T cells and other immune cells within the joints, thereby exacerbating the autoimmune response. | PubMed: 11590198 |
| Cancer (Various) | IL-7 can act as a growth factor for certain types of leukemia and lymphoma. In some solid tumors, IL-7 expression in the tumor microenvironment may promote an anti-tumor immune response, while in others, it may support tumor growth and immune evasion, depending on the context and tumor type. | COSMIC; PubMed: 21900593 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | Not available | High (Source: Human Protein Atlas) |
| Thymus | Not available | High (Source: Human Protein Atlas) |
| Spleen | Not available | Medium (Source: Human Protein Atlas) |
| Lymph Node | Not available | Medium (Source: Human Protein Atlas) |
| Intestine | Not available | Low (Source: Human Protein Atlas) |
| Skin | Not available | Low (Source: Human Protein Atlas) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Stromal Cells (Bone Marrow) | Not available | Primary source of IL-7 in the bone marrow microenvironment. |
| Thymic Epithelial Cells | Not available | Crucial for T-cell development in the thymus. |
| Intestinal Epithelial Cells | Not available | Produce IL-7 to support intraepithelial lymphocytes. |
| Keratinocytes | Not available | Produce IL-7 in the skin. |
| Follicular Dendritic Cells | Not available | Produce IL-7 in lymphoid tissues. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.91C>T (p.Arg31*) | Nonsense | Rare | Introduces a premature stop codon, leading to a truncated, non-functional IL-7 protein. Associated with autosomal recessive SCID. |
| c.235C>T (p.Arg79Cys) | Missense | Rare | A missense mutation that disrupts the protein's structure and function, impairing its ability to bind to the IL-7 receptor. Associated with SCID. |
| c.313C>T (p.Arg105Trp) | Missense | Rare | Another missense mutation affecting a conserved residue, leading to loss of IL-7 function and contributing to SCID. |
| c.337G>A (p.Gly113Ser) | Missense | Rare | A missense variant that may affect protein folding or stability, leading to reduced IL-7 activity. Reported in patients with immunodeficiency. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in IL7, such as nonsense or disruptive missense mutations, result in the absence or severe reduction of functional IL-7 protein. This leads to a block in early lymphoid development, particularly affecting T-cell and B-cell production, and manifests clinically as severe combined immunodeficiency (SCID).
Gain of Function (GOF)
Gain-of-function mutations in the IL7 gene itself are not well-documented. However, overexpression of IL-7 or gain-of-function mutations in its receptor (IL7R) have been observed in certain cancers, such as T-cell acute lymphoblastic leukemia (T-ALL), where they promote uncontrolled cell proliferation and survival.
Dominant Negative (DN)
No dominant-negative mutations have been described for the IL7 gene. Since IL-7 is a secreted cytokine, a mutant protein would need to be secreted and interfere with the function of the wild-type protein, a mechanism not currently reported for IL7.
View complete mutation data：
Gene Ontology (GO)
| • cytokine activity | • interleukin-7 receptor binding |
| • growth factor activity | • extracellular space |
| • immune response | • positive regulation of cell population proliferation |
| • regulation of signaling receptor activity | • lymphocyte activation |
Pathways
• Cytokine-cytokine receptor interaction
• Hematopoietic cell lineage
• JAK-STAT signaling pathway
• PI3K-Akt signaling pathway
• T cell receptor signaling pathway
Protein Summary
Interleukin-7 (IL-7) is a secreted cytokine of approximately 17.4 kDa. It is a four-helix bundle protein that exerts its biological effects by binding to a heterodimeric receptor complex composed of the IL-7 receptor alpha chain (IL-7Rα/CD127) and the common gamma chain (γc/CD132). This binding activates multiple intracellular signaling cascades, most notably the JAK-STAT pathway (involving JAK1, JAK3, and STAT5), the PI3K-Akt pathway, and the Ras-MAPK pathway. These pathways collectively promote cell survival, proliferation, and differentiation. IL-7 is a non-redundant factor for the development of T cells and B cells in mice and humans, and it is also critical for the homeostasis of naive and memory T cells in the periphery. Its expression is tightly regulated and primarily produced by stromal cells in lymphoid organs and epithelial cells in peripheral tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| IL7 Knockout HEK293 Cell Line | EDJ-KQ501 | Human | 3574 | Details Get a Quote |
| IL7R Knockout HEK293 Cell Line | EDJ-KQ502 | Human | 3575 | Details Get a Quote |
| IL7R Knockout HeLa Cell Line | EDC10330 | Human | 3575 | Details Get a Quote |
| IL7 Knockout HeLa Cell Line | EDJ-KQ53639 | Human | 3574 | Details Get a Quote |
| IL7 Knockout A-549 Cell Line | EDJ-KQ62113 | Human | 3574 | Details Get a Quote |
| IL7R Knockout A-549 Cell Line | EDJ-KQ62114 | Human | 3575 | Details Get a Quote |
| IL7 Knockout HCT 116 Cell Line | EDJ-KQ70602 | Human | 3574 | Details Get a Quote |
| IL7R Knockout HCT 116 Cell Line | EDJ-KQ70603 | Human | 3575 | Details Get a Quote |
