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ICOS

Chr 2q33.2

inducible T cell costimulator

Aliases:
AILIM, CD278
MANE:
ENST00000316386.11

Annotations refreshed 11 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal
  • Gastrointestinal epithelial barrier disorders

    BIALLELIC, autosomal or pseudoautosomal
  • Infantile enterocolitis & monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal
  • Intestinal failure or congenital diarrhoea

    BIALLELIC, autosomal or pseudoautosomal
  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • immunodeficiency, common variable, 1

    0.73
  • common variable immunodeficiency

    0.68
  • hypothyroidism

    0.48
  • severe combined immunodeficiency

    0.46
  • combined immunodeficiency

    0.46
  • recurrent infections associated with rare immunoglobulin isotypes deficiency

    0.46
  • basal cell carcinoma

    0.41
  • myxedema

    0.40
  • cancer

    0.39
  • skin neoplasm

    0.39

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Inducible T-cell costimulator

Stimulatory receptor expressed in activated or antigen-experienced T-cells that plays an important role in the immune response (PubMed:9930702). Upon binding to its ligand ICOSL expressed on antigen presenting cells (APCs), delivers costimulatory signals that enhances all basic T-cell responses to a foreign antigen, namely proliferation, secretion of lymphokines including IL10, up-regulation of molecules that mediate cell-cell interaction, and effective help for antibody secretion by B-cells (PubMed:33033255). Also acts as a costimulatory receptor critical for the differentiation of T follicular regulatory cells upon immune challenges such as viral infection (PubMed:27135603). Mechanistically, potentiates TCR-induced calcium flux by augmenting PLCG1 activation and actin remodeling (By similarity). In addition, activates PI3K signaling pathways independently of calcium flux (PubMed:30523347). Essential both for efficient interaction between T and B-cells and for normal antibody responses to T-cell dependent antigens. Prevents the apoptosis of pre-activated T-cells. Plays a critical role in CD40-mediated class switching of immunoglobin isotypes (By similarity)

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.