CD72

Chr 9

CD72 molecule

Also known as: CD72b, LYB2

NCBI Gene: 971ENSG00000137101UniProt: P21854

Enables transmembrane signaling receptor activity. Involved in negative regulation of B cell receptor signaling pathway. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

129
ClinVar variants
73
Pathogenic / LP
0.02
pLI score
0
Active trials
Clinical Summary— CD72
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.32) despite low pLI — interpret in context.
📋
ClinVar Variants
73 Pathogenic / Likely Pathogenic· 44 VUS of 129 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.60LOEUF
pLI 0.020
Z-score 2.97
OE 0.32 (0.18–0.60)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.39Z-score
OE missense 0.92 (0.81–1.04)
172 obs / 187.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.32 (0.18–0.60)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.92 (0.81–1.04)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.91
0≤1.21.6
LoF obs/exp: 7 / 22.0Missense obs/exp: 172 / 187.0Syn Z: 0.61

ClinVar Variant Classifications

129 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic64
Likely Pathogenic9
VUS44
Likely Benign2
64
Pathogenic
9
Likely Pathogenic
44
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
64
0
64
Likely Pathogenic
0
0
9
0
9
VUS
0
37
7
0
44
Likely Benign
0
2
0
0
2
Benign
0
0
0
0
0
Total039800119

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

CD72 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
CD72 ANTIGEN; CD72
MIM #107272 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Framework humanization optimizes potency of anti-CD72 nanobody CAR-T cells for B-cell malignancies.
Temple WC et al.·J Immunother Cancer
2023
Antigen-presenting autoreactive B cells activate regulatory T cells and suppress autoimmune arthritis in mice.
Aoun M et al.·J Exp Med
2023
A Predictive Model for Initial Platinum-Based Chemotherapy Efficacy in Patients with Postoperative Epithelial Ovarian Cancer Using Tissue-Derived Small Extracellular Vesicles.
Shen S et al.·J Extracell Vesicles
2024Cohort
Bone marrow and splenic histology in hairy cell leukaemia.
Wotherspoon A et al.·Best Pract Res Clin Haematol
2015Review
The dendritic cell lineage: a ubiquitous antigen-presenting organization.
Massard G et al.·Ann Thorac Surg
1996Review
CD72 polymorphism associated with child-onset of idiopathic thrombocytopenic purpura in Chinese patients.
Xu J et al.·J Clin Immunol
2008Cohort
Identification of novel protein biomarkers of macrophage polarization using comparative proteomic analyses of murine primary macrophages.
Liu B et al.·J Immunol
2025
[Relapsing-remitting multiple sclerosis: clinical and immunological aspects of the pathology on the example of molecules Sema4D and CD72].
Danchenko IY et al.·Zh Nevrol Psikhiatr Im S S Korsakova
2021
A Single-Tube 21-Color Multiparameter Flow Cytometry Improve the Sensitivity of B-ALL MRD Analysis.
Wang Q et al.·Clin Lab
2023
[Relapsing-remitting multiple sclerosis: clinical and immunological aspects of the pathology on the example Sema4D and CD72].
Danchenko IY et al.·Zh Nevrol Psikhiatr Im S S Korsakova
2019
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools