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CD79A

Chr 19q13.2

CD79a molecule

Aliases:
MB-1, Ig-alpha, MB1, IGAlpha
MANE:
ENST00000221972.8
OMIM: 112205 ↗NCBI: 973 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    BIALLELIC, autosomal or pseudoautosomal

  • Primary immunodeficiency or monogenic inflammatory bowel disease

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • isolated agammaglobulinemia

    0.66

  • agammaglobulinemia

    0.47

  • autosomal agammaglobulinemia

    0.47

  • diffuse large B-cell lymphoma

    0.38

  • colorectal adenocarcinoma

    0.37

  • gliomatosis cerebri

    0.37

  • cutaneous melanoma

    0.37

  • immunodeficiency disease

    0.34

  • B-cell chronic lymphocytic leukemia

    0.30

  • plasma cell myeloma

    0.30

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

Protein function (UniProt)

B-cell antigen receptor complex-associated protein alpha chain

Required in cooperation with CD79B for initiation of the signal transduction cascade activated by binding of antigen to the B-cell antigen receptor complex (BCR) which leads to internalization of the complex, trafficking to late endosomes and antigen presentation. Also required for BCR surface expression and for efficient differentiation of pro- and pre-B-cells. Stimulates SYK autophosphorylation and activation. Binds to BLNK, bringing BLNK into proximity with SYK and allowing SYK to phosphorylate BLNK. Also interacts with and increases activity of some Src-family tyrosine kinases. Represses BCR signaling during development of immature B-cells

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.