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.

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 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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