BOD1L2

Chr 18

biorientation of chromosomes in cell division 1 like 2

Also known as: BOD1P, FAM44C

NCBI Gene: 284257 ENSG00000228075 UniProt: Q8IYS8 OMIM: 616745

The protein is predicted to function in cell division and may be involved in proper chromosome alignment during mitosis by detecting or correcting improper chromosome attachments to the mitotic spindle. Currently, no human diseases have been definitively associated with BOD1L2 mutations in the medical literature. The gene shows low constraint against loss-of-function variants (pLI = 0.08, LOEUF = 1.9), suggesting it may tolerate genetic variation better than highly disease-associated genes.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in cell division. Predicted to be located in centrosome and kinetochore. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.92

LOEUF

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Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.92LOEUF

pLI 0.076

Z-score -0.41

OE 1.56 (0.32–1.92)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.17Z-score

OE missense 0.95 (0.80–1.13)

92 obs / 96.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.56 (0.32–1.92)

0≤0.351.4

Missense OE?0.95 (0.80–1.13)

0≤0.61.4

Synonymous OE?1.07

0≤1.21.6

LoF obs/exp: 1 / 0.6Missense obs/exp: 92 / 96.6Syn Z: -0.38

Background carrier burden — how many people carry a rare variant somewhere in BOD1L2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 180

231 rare PASS variants

Rare truncating (LoF)

1 in 3,000

31 rare PASS variants

Rare synonymous (reference)

1 in 410

105 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for BOD1L2. 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 310	1 in 2,800
South Asian	~43k	1 in 200	1 in 1,600
Remaining (unassigned)	~30k	1 in 120	1 in 5,200
European (Finnish)	~27k	1 in 710	≈ 1 in 8,400
Admixed American	~22k	1 in 110	≈ 1 in 22,000
African / African American	~21k	1 in 150	≈ 1 in 9,000
East Asian	~20k	1 in 180	≈ 1 in 9,400
Ashkenazi Jewish	~13k	1 in 650	none seen
Middle Eastern	~2,884	1 in 140	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): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓