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CD3G

Chr 11q23.3

CD3 gamma subunit of T-cell receptor complex

Aliases:
CD3-GAMMA, CD3GAMMA
MANE:
ENST00000532917.3

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

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

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

    BIALLELIC, autosomal or pseudoautosomal
  • Gastrointestinal epithelial barrier disorders

Disease associations (Open Targets)

  • combined immunodeficiency due to CD3gamma deficiency

    0.77
  • plasma cell myeloma

    0.60
  • diffuse large B-cell lymphoma

    0.59
  • cutaneous leishmaniasis

    0.58
  • follicular lymphoma

    0.58
  • neoplasm

    0.58
  • acute lymphoblastic leukemia

    0.56
  • severe combined immunodeficiency

    0.56
  • small cell lung carcinoma

    0.56
  • Ascites

    0.51

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

Protein function (UniProt)

T-cell surface glycoprotein CD3 gamma chain

Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD247/CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:2470098). In addition to this role of signal transduction in T-cell activation, CD3G plays an essential role in the dynamic regulation of TCR expression at the cell surface (PubMed:8187769). Indeed, constitutive TCR cycling is dependent on the di-leucine-based (diL) receptor-sorting motif present in CD3G

Curated MONDO disease pages that list CD3G among their top associated genes.

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.