CD72

CD72 Molecule, a B-cell differentiation antigen and immune checkpoint regulator

Gene Information Card

Symbol CD72
Full Name CD72 molecule
Gene Type protein-coding
Chromosomal Location 9p13.3
NCBI Gene ID 971 ncbi.nlm.nih.gov/gene/971
Ensembl ID ENSG00000137101
UniProt ID P21854
OMIM ID 107270
HGNC ID 1696
Aliases Lyb-2, LYB2, B-cell differentiation antigen CD72, CD72b

Description

CD72 is a type II transmembrane glycoprotein expressed primarily on B cells and to a lesser extent on dendritic cells and macrophages. It functions as a co-receptor in B-cell receptor (BCR) signaling, modulating B-cell activation and differentiation. CD72 binds to the B-cell receptor complex and interacts with CD100 (SEMA4D) to regulate immune responses. It is involved in B-cell development, autoimmunity, and hematologic malignancies.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Systemic lupus erythematosus (SLE) CD72 polymorphisms associated with altered B-cell tolerance and autoantibody production GWAS and case-control studies (PMID: 23291587)
B-cell chronic lymphocytic leukemia (B-CLL) CD72 overexpression on malignant B cells contributes to defective BCR signaling and immune evasion Flow cytometry and transcriptomic analysis (PMID: 15657176)
Diffuse large B-cell lymphoma (DLBCL) CD72 expression correlates with tumor microenvironment and prognosis Immunohistochemistry and gene expression profiling (PMID: 28490519)
Rheumatoid arthritis CD72-mediated B-cell hyperreactivity and autoantibody production Association studies and functional assays (PMID: 21593344)

Expression Profile

Tissue Expression
Tissue nTPM level
Spleen 58.2 High
Lymph node 45.1 High
Bone marrow 32.7 Medium
Blood (B cells) 28.5 Medium
Tonsil 41.3 High
Appendix 22.4 Medium
Lung 5.8 Low
Small intestine 4.2 Low
Cell Line Expression
Cell Line nTPM Notes
Raji (Burkitt lymphoma) 62.1 B-cell line, high CD72 expression
Daudi (Burkitt lymphoma) 55.4 B-cell line, high CD72 expression
RPMI-8226 (multiple myeloma) 12.3 Plasma cell line, moderate expression
K-562 (chronic myelogenous leukemia) 1.2 Non-B lineage, very low expression
HEK293 (embryonic kidney) 0.5 Non-hematopoietic, negligible expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.442C>T (p.Arg148Trp) Missense <0.01% Alters extracellular domain; potential impact on CD100 binding
c.1A>G (p.Met1Val) Start loss <0.01% Loss of translation initiation; likely loss of function
c.763_764insA (p.Thr255AsnfsTer12) Frameshift <0.01% Premature truncation; loss of cytoplasmic signaling domain
Mutation functional classification

Loss of Function (LOF)

Frameshift and start-loss mutations predicted to abolish CD72 protein expression or disrupt transmembrane/cytoplasmic domains, impairing BCR co-receptor function.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in CD72.

Dominant Negative (DN)

No evidence of dominant-negative effects; CD72 functions as a homodimer, but no dominant-negative variants described.

Pathways

• B cell receptor signaling pathway (Reactome: R-HSA-983705)
• CD72-mediated regulation of B-cell activation (KEGG: hsa04662)
• Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell (Reactome: R-HSA-198933)

Protein Summary

CD72 is a 359-amino-acid type II transmembrane protein with a short N-terminal cytoplasmic tail containing ITIM (immunoreceptor tyrosine-based inhibitory motif) and a C-terminal extracellular C-type lectin-like domain. It forms homodimers on the B-cell surface and negatively regulates BCR signaling by recruiting phosphatases such as SHP-1. Upon binding to its ligand CD100 (SEMA4D), the inhibitory signal is relieved, promoting B-cell activation and proliferation. CD72 is also implicated in T-cell costimulation and dendritic cell function.

Related Products

Product name Cat.No. Species Gene ID
CD72 Knockout HEK293 Cell Line EDJ-KQ938 Human 971 Details Get a Quote
CD72 Knockout HeLa Cell Line EDJ-KQ52847 Human 971 Details Get a Quote
CD72 Knockout A-549 Cell Line EDJ-KQ61314 Human 971 Details Get a Quote
CD72 Knockout HCT 116 Cell Line EDJ-KQ69809 Human 971 Details Get a Quote
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