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IL7

Function

Hematopoietic cytokine that plays an essential role in the development, expansion, and survival of naive and memory T-cells and B-cells thereby regulating the number of mature lymphocytes and maintaining lymphoid homeostasis (PubMed:25870237, PubMed:7527823). Mechanistically, exerts its biological effects through a receptor composed of IL7RA subunit and the cytokine receptor common subunit gamma/CSF2RG (PubMed:8128231). Binding to the receptor leads to activation of various kinases including JAK1 or JAK3 depending on the cell type and subsequently propagation of signals through activation of several downstream signaling pathways including the PI3K/Akt/mTOR or the JAK-STAT5 (PubMed:18523275, PubMed:20974963).

Involvement in disease

Epidermodysplasia verruciformis 5

EV5

A form of epidermodysplasia verruciformis, a rare genodermatosis associated with a high risk of skin carcinoma that results from an abnormal susceptibility to infection by specific human papillomaviruses, including the oncogenic HPV5. Infection leads to the early development of disseminated flat wart-like and pityriasis versicolor-like skin lesions. Cutaneous Bowen's carcinomas in situ and invasive squamous cell carcinomas develop in about half of the patients, mainly on sun-exposed skin areas. EV5 patients shows T-cell lymphopenia, particularly affecting CD4+ T cells. EV5 inheritance is autosomal recessive.

None

The disease may be caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the IL-7/IL-9 family.

Cellular localization

Alternative names

Interleukin-7, IL-7, IL7

swissprot:P13232 omim:146660 entrezGene:3574

Other research areas