IL21 Chromosome 4

Interleukin 21
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a member of the common-gamma chain family of cytokines with immunoregulatory activity. The encoded protein plays a role in both the innate and adaptive immune responses by inducing the differentiation, proliferation and activity of multiple target cells including macrophages, natural killer cells, B cells and cytotoxic T cells. Dysregulation of this gene plays a role in multiple immune-mediated diseases including lupus, psoriasis and chronic inflammatory diseases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
Interleukins
Locus Type
gene with protein product
Location
4q27
Ensembl
ENSG00000138684
Associated Conditions (1)
IL21-related infantile inflammatory bowel disease
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS374097344 Health Risk Conflicting classifications of pathogenicity
RS587777338 Health Risk Pathogenic IL21-related infantile inflammatory bowel disease, IL21-related infantile inflammatory bowel disease
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