CD79B Gene: Structure, Function, and Clinical Significance
A comprehensive guide to the CD79B gene, its protein product, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | CD79B |
|---|---|
| Full Name | CD79b molecule |
| Gene Type | protein-coding |
| Chromosomal Location | 17q23.3 |
| NCBI Gene ID | 974 ncbi.nlm.nih.gov/gene/974 |
| Ensembl ID | ENSG00000007312 |
| UniProt ID | P40259 |
| OMIM ID | 147245 |
| HGNC ID | 1699 |
| Aliases | B29, IGB, AGM4 |
Description
The CD79B gene encodes the Ig-beta protein, a crucial component of the B-cell antigen receptor (BCR) complex. CD79B, along with CD79A (Ig-alpha), forms a heterodimer that associates with membrane-bound immunoglobulin. This complex is essential for B-cell development, signaling, and survival. CD79B contains an immunoreceptor tyrosine-based activation motif (ITAM) that becomes phosphorylated upon antigen binding, initiating downstream signaling cascades. Mutations in CD79B are frequently observed in certain B-cell lymphomas, particularly diffuse large B-cell lymphoma (DLBCL), contributing to chronic active BCR signaling and tumor growth.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diffuse large B-cell lymphoma (DLBCL) | Mutations in the ITAM region (e.g., Y196) lead to enhanced BCR signaling and survival of malignant B cells. | COSMIC; PMID: 23160464 |
| Primary mediastinal large B-cell lymphoma (PMBL) | Recurrent CD79B mutations contribute to constitutive BCR signaling in PMBL. | COSMIC; PMID: 26712909 |
| Chronic lymphocytic leukemia (CLL) | CD79B mutations are rare but can occur, potentially affecting BCR signaling in CLL. | COSMIC; PMID: 23292937 |
| B-cell acute lymphoblastic leukemia (B-ALL) | CD79B mutations are uncommon but may be present in some subtypes, contributing to aberrant signaling. | COSMIC; PMID: 27135911 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | High | High |
| Spleen | High | High |
| Bone marrow | Medium | Medium |
| Blood | Medium | Medium |
| Tonsil | High | High |
| Appendix | Medium | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Ramos (Burkitt lymphoma) | High | B-cell line |
| Daudi (Burkitt lymphoma) | High | B-cell line |
| SU-DHL-4 (DLBCL) | High | B-cell line |
| OCI-LY3 (ABC-DLBCL) | High | Activated B-cell type |
| Jurkat (T-cell leukemia) | Low | Negative control |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| Y196F | Missense | ~20% in ABC-DLBCL | Enhances BCR signaling by preventing ITAM phosphorylation inhibition |
| Y196D | Missense | Rare | Alters ITAM function, promotes survival |
| Y196S | Missense | Rare | Similar to Y196F |
| L199P | Missense | Rare | Disrupts ITAM structure, may affect signaling |
| D200H | Missense | Rare | Potential gain-of-function in BCR signaling |
Mutation functional classification
Loss of Function (LOF)
Not commonly observed; CD79B loss would impair BCR expression and signaling, but such mutations are rare in cancers.
Gain of Function (GOF)
Most CD79B mutations in lymphomas are gain-of-function, leading to enhanced BCR signaling and cell survival.
Dominant Negative (DN)
Not typically described; mutations are usually heterozygous and act as gain-of-function.
View complete mutation data:
Gene Ontology (GO)
| • transmembrane signaling receptor activity (GO:0004888) | • cell surface receptor signaling pathway (GO:0007166) |
| • adaptive immune response (GO:0002250) | • apoptotic process (GO:0006915) |
| • cytoplasm (GO:0005737) | • integral component of membrane (GO:0016021) |
Pathways
• B cell receptor signaling pathway (KEGG hsa04662)
• NF-kappa B signaling pathway (KEGG hsa04064)
• PI3K-Akt signaling pathway (KEGG hsa04151)
• MAPK signaling pathway (KEGG hsa04010)
Protein Summary
CD79B (Ig-beta) is a transmembrane protein that forms a heterodimer with CD79A (Ig-alpha) to constitute the signaling component of the B-cell receptor (BCR). It contains an ITAM motif in its cytoplasmic tail, which is phosphorylated by Src-family kinases upon antigen binding, leading to recruitment of Syk and activation of downstream pathways such as NF-κB, PI3K, and MAPK. CD79B is essential for B-cell maturation and antibody production. In B-cell malignancies, mutations in the ITAM region (particularly at Y196) result in enhanced BCR signaling, promoting tumor cell survival and proliferation. CD79B is also a target for antibody-drug conjugates (e.g., polatuzumab vedotin) in DLBCL therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD79B Knockout HEK293 Cell Line | EDJ-KQ17758 | Human | 974 | Details Get a Quote |
| CD79B Knockout HeLa Cell Line | EDJ-KQ52849 | Human | 974 | Details Get a Quote |
| CD79B Knockout A-549 Cell Line | EDJ-KQ61317 | Human | 974 | Details Get a Quote |
| CD79B Knockout HCT 116 Cell Line | EDJ-KQ69812 | Human | 974 | Details Get a Quote |
| CD79B (p.C122=) Point Mutation in HAP1 Cell Line | EDC03433 | Human | 974 | Details Get a Quote |
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