CD72

Chr 9

CD72 molecule

Also known as: CD72b, LYB2

NCBI Gene: 971 ENSG00000137101 UniProt: P21854 OMIM: 107272

CD72 encodes a B cell co-receptor that regulates B cell receptor signaling through recruitment of phosphatases and maintains regulatory T and B cell homeostasis. Mutations cause common variable immunodeficiency with autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants, suggesting some tolerance to complete loss of function.

OMIM ResearchSummary from RefSeq, UniProt

Enables receptor ligand activity and transmembrane signaling receptor activity. Involved in negative regulation of B cell receptor signaling pathway. Is active in plasma membrane. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.60

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

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?

0.39Z-score

OE missense 0.92 (0.81–1.04)

172 obs / 187.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.32 (0.18–0.60)

0≤0.351.4

Missense OE?0.92 (0.81–1.04)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 7 / 22.0Missense obs/exp: 172 / 187.0Syn Z: 0.61

Background carrier burden — how many people carry a rare variant somewhere in CD72?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 190

488 rare PASS variants

Rare truncating (LoF)

1 in 4,500

66 rare PASS variants

Rare synonymous (reference)

1 in 250

208 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CD72. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 330	1 in 4,100
South Asian	~43k	1 in 94	≈ 1 in 11,000
Remaining (unassigned)	~30k	1 in 120	1 in 4,900
European (Finnish)	~27k	1 in 570	≈ 1 in 12,000
Admixed American	~22k	1 in 100	1 in 3,100
African / African American	~21k	1 in 110	≈ 1 in 9,300
East Asian	~20k	1 in 130	≈ 1 in 4,800
Ashkenazi Jewish	~13k	1 in 1,000	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 150	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 7 of 8 coding exons well covered in gnomAD exomes; exon 7 marginal. Genomes: all 8.? see exons ↓