CD79A Gene (B-Cell Antigen Receptor Complex Component)
Essential component of the B-cell receptor complex; mutations associated with agammaglobulinemia and B-cell malignancies.
Gene Information Card
| Symbol | CD79A |
|---|---|
| Full Name | CD79a molecule, immunoglobulin-associated alpha |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 973 ncbi.nlm.nih.gov/gene/973 |
| Ensembl ID | ENSG00000105369 |
| UniProt ID | P11912 |
| OMIM ID | 112205 |
| HGNC ID | 1698 |
| Aliases | IGA, MB-1, Ig-alpha, B-cell antigen receptor complex-associated protein alpha chain |
Description
CD79A encodes the Ig-alpha protein, a transmembrane component of the B-cell antigen receptor (BCR) complex. Ig-alpha forms a heterodimer with Ig-beta (CD79B) and is essential for BCR surface expression and signal transduction. CD79A is expressed specifically in B cells from the pro-B cell stage onward. Mutations in CD79A cause autosomal recessive agammaglobulinemia type 3 (AGM3), characterized by absent B cells and severe antibody deficiency. Somatic mutations and altered expression of CD79A are implicated in B-cell non-Hodgkin lymphomas, including diffuse large B-cell lymphoma (DLBCL).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Agammaglobulinemia 3, autosomal recessive (AGM3) | Loss-of-function mutations prevent BCR expression, blocking B-cell development. | OMIM #112205; ClinVar |
| Diffuse large B-cell lymphoma (DLBCL) | Somatic mutations and reduced CD79A expression impair BCR signaling, contributing to lymphomagenesis. | COSMIC; NCBI PubMed |
| B-cell acute lymphoblastic leukemia (B-ALL) | CD79A is used as a diagnostic marker; rare mutations may affect BCR signaling. | ClinVar; NCBI PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 125.3 | High |
| Spleen | 98.7 | High |
| Bone marrow | 45.2 | Medium |
| Blood (B cells) | 320.1 | High |
| Appendix | 72.4 | Medium |
| Tonsil | 210.5 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Raji (Burkitt lymphoma) | 285.0 | B-cell line; high CD79A expression |
| Daudi (Burkitt lymphoma) | 310.2 | B-cell line; high CD79A expression |
| K562 (CML) | 0.5 | Non-B cell; negligible expression |
| HEK293 (embryonic kidney) | 0.3 | Non-B cell; negligible expression |
| OCI-Ly1 (DLBCL) | 45.0 | Variable expression in DLBCL lines |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.156C>A (p.Cys52Ter) | Nonsense | Rare | Loss of function; truncation of Ig-alpha; causes AGM3 |
| c.325G>A (p.Gly109Arg) | Missense | Rare | Loss of function; disrupts BCR assembly; causes AGM3 |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of function; no protein; causes AGM3 |
| c.560_561insA (p.Tyr187Ter) | Frameshift | Rare | Loss of function; premature stop; causes AGM3 |
Mutation functional classification
Loss of Function (LOF)
Nonsense, frameshift, start loss, and missense mutations in CD79A that abolish protein expression or BCR assembly lead to autosomal recessive agammaglobulinemia.
Gain of Function (GOF)
No gain-of-function mutations reported in CD79A.
Dominant Negative (DN)
No dominant-negative mutations reported; all pathogenic mutations are recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• B cell receptor signaling pathway (KEGG hsa04662)
• Primary immunodeficiency (KEGG hsa05340)
• NF-kappa B signaling pathway (Reactome R-HSA-1169091)
Protein Summary
CD79A (Ig-alpha) is a 226-amino-acid transmembrane glycoprotein with a single extracellular Ig-like domain, a transmembrane region, and a cytoplasmic tail containing an immunoreceptor tyrosine-based activation motif (ITAM). It forms a disulfide-linked heterodimer with CD79B (Ig-beta) and non-covalently associates with membrane immunoglobulin (mIg) to constitute the B-cell receptor (BCR). Upon antigen binding, the ITAMs of CD79A and CD79B are phosphorylated by Src-family kinases, initiating downstream signaling cascades (e.g., SYK, BTK, PLCγ2) essential for B-cell development, activation, and survival. CD79A is a specific B-cell marker used in immunohistochemistry and flow cytometry for diagnosing B-cell lymphomas and leukemias.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD79A Knockout HEK293 Cell Line | EDJ-KQ4226 | Human | 973 | Details Get a Quote |
| CD79A Knockout HeLa Cell Line | EDJ-KQ52848 | Human | 973 | Details Get a Quote |
| CD79A Knockout A-549 Cell Line | EDJ-KQ61316 | Human | 973 | Details Get a Quote |
| CD79A Knockout HCT 116 Cell Line | EDJ-KQ69811 | Human | 973 | Details Get a Quote |
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