LACTB2

Chr 8

lactamase beta 2

Also known as: CGI-83

NCBI Gene: 51110 ENSG00000147592 UniProt: Q53H82 OMIM: 618921

The protein is a mitochondrial endoribonuclease that cleaves single-stranded RNA at specific purine-pyrimidine motifs and is required for normal mitochondrial function and cell viability. Currently, no human diseases have been definitively associated with LACTB2 mutations in the medical literature. The gene shows minimal constraint against loss-of-function variants, suggesting it may tolerate some degree of functional impairment.

OMIM ResearchSummary from RefSeq, UniProt

Enables RNA endonuclease activity; single-stranded RNA binding activity; and zinc ion binding activity. Located in several cellular components, including Golgi apparatus; mitochondrial matrix; and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.09

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.09LOEUF

pLI 0.000

Z-score 1.32

OE 0.62 (0.38–1.09)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.43Z-score

OE missense 0.90 (0.78–1.04)

130 obs / 144.7 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.62 (0.38–1.09)

0≤0.351.4

Missense OE?0.90 (0.78–1.04)

0≤0.61.4

Synonymous OE?0.87

0≤1.21.6

LoF obs/exp: 9 / 14.4Missense obs/exp: 130 / 144.7Syn Z: 0.73

Background carrier burden — how many people carry a rare variant somewhere in LACTB2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 240

353 rare PASS variants

Rare truncating (LoF)

1 in 2,900

69 rare PASS variants

Rare synonymous (reference)

1 in 830

130 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for LACTB2. 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 260	1 in 3,500
South Asian	~43k	1 in 180	1 in 1,200
Remaining (unassigned)	~30k	1 in 180	1 in 4,100
European (Finnish)	~27k	1 in 950	≈ 1 in 13,000
Admixed American	~22k	1 in 190	1 in 1,400
African / African American	~21k	1 in 140	1 in 1,400
East Asian	~20k	1 in 200	1 in 2,400
Ashkenazi Jewish	~13k	≈ 1 in 6,500	none seen
Middle Eastern	~2,884	1 in 190	≈ 1 in 2,800

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): 5 of 7 coding exons well covered in gnomAD exomes; exons 6, 7 marginal. Genomes: all 7.? see exons ↓