BOD1L2

Chr 18

biorientation of chromosomes in cell division 1 like 2

Also known as: BOD1P, FAM44C

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.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
1
Pubs (1 yr)
67
P/LP submissions
P/LP missense
1.92
LOEUF
Mechanism
Clinical SummaryBOD1L2
Population Constraint (gnomAD)
Low constraint (pLI 0.08) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
65 unique Pathogenic / Likely Pathogenic· 6 VUS of 71 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.92LOEUF
pLI 0.076
Z-score -0.41
OE 1.56 (0.321.92)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.17Z-score
OE missense 0.95 (0.801.13)
92 obs / 96.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.56 (0.321.92)
00.351.4
Missense OE0.95 (0.801.13)
00.61.4
Synonymous OE1.07
01.21.6
LoF obs/exp: 1 / 0.6Missense obs/exp: 92 / 96.6Syn Z: -0.38

ClinVar Variant Classifications

71 submitted variants in ClinVar

Classification Summary

Pathogenic63
Likely Pathogenic2
VUS6
63
Pathogenic
2
Likely Pathogenic
6
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
63
Likely Pathogenic
2
VUS
6
Likely Benign
0
Benign
0
Total71

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

BOD1L2 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found