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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BOD1
biorientation of chromosomes in cell division 1
Chromosome 5 · 5q35.2
NCBI Gene: 91272Ensembl: ENSG00000145919.12HGNC: HGNC:25114UniProt: Q96IK1
29PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein phosphatase inhibitor activityprotein bindingprotein phosphatase 2A bindingmitotic metaphase chromosome alignmenthypertrophic cardiomyopathyplacenta praeviaAbnormality of refractionadolescent idiopathic scoliosis
✦AI Summary

BOD1 (Biorientation Defective 1) is a small outer kinetochore protein essential for accurate chromosome 5 during mitosis. Its primary function involves detecting and correcting syntelic attachments—improper microtubule-kinetochore connections where sister kinetochores attach to spindle poles from the same side—thereby ensuring proper chromosome 5 1. Mechanistically, BOD1 regulates PP2A-B56 phosphatase activity at kinetochores by acting as a phosphatase inhibitor, with its inhibitory function enhanced by phosphorylation at threonine 95 2. The Ndc80 complex recruits BOD1 to kinetochores, where it regulates phosphorylation of key outer kinetochore proteins including Ndc80 and Knl1 to establish proper microtubule attachments 3. Beyond mitotic functions, BOD1 plays critical roles in neurological development and cognitive function through mechanisms independent of cell cycle regulation, as demonstrated in human patients and Drosophila models 4. BOD1 mutations cause autosomal recessive syndromic intellectual disability with neurodevelopmental delay, hearing impairment, and endocrine dysfunction 5. BOD1 depletion also sensitizes cells to radiation-induced genomic instability through increased premature chr5 separation 6. These findings establish BOD1 as a multifunctional regulator controlling both mitotic fidelity and postmitotic neurological processes.

Sources cited
1
BOD1 is an outer kinetochore protein regulating PP2A-B56 phosphatase function vital for chromosome biorientation and segregation fidelity; also functions in neurological and metabolic pathways
PMID: 41417274
2
BOD1 promotes chromosome biorientation by releasing chromosomes from improperly oriented microtubule attachments
PMID: 17954603
3
Homozygous BOD1 mutations cause syndromic intellectual disability with neurodevelopmental delay, hearing impairment, and endocrine dysfunction
PMID: 32578875
4
BOD1 stop-mutation co-segregates with intellectual disability in humans; BOD1 has cell cycle-independent roles in cognitive function and neuronal synaptic development demonstrated in Drosophila
PMID: 27166630
5
Ndc80 complex recruits phosphorylated BOD1 to kinetochores where it inhibits PP2A-B56 and regulates phosphorylation of Ndc80 and Knl1 for proper microtubule attachments
PMID: 29142109
6
BOD1 depletion increases premature chromatid separation and sensitizes cells to radiation-induced genomic instability
PMID: 27527863
7
BOD1 localizes to kinetochores and spindle poles; depletion causes syntelic attachments and biorientation defects; required for detection or resolution of syntelic attachments
PMID: 17938248
Disease Associationsⓘ20
hypertrophic cardiomyopathyOpen Targets
0.32Weak
placenta praeviaOpen Targets
0.31Weak
Abnormality of refractionOpen Targets
0.30Weak
adolescent idiopathic scoliosisOpen Targets
0.26Weak
Tietze syndromeOpen Targets
0.19Weak
kidney transplantOpen Targets
0.17Weak
allergic rhinitisOpen Targets
0.17Weak
pneumoconiosisOpen Targets
0.17Weak
poisoningOpen Targets
0.17Weak
response to xenobiotic stimulusOpen Targets
0.17Weak
cervical carcinomaOpen Targets
0.17Weak
ovarian neoplasmOpen Targets
0.13Weak
osteoarthritis, hipOpen Targets
0.12Weak
prostate carcinomaOpen Targets
0.10Weak
alopecia areataOpen Targets
0.10Suggestive
total hip arthroplastyOpen Targets
0.08Suggestive
obesityOpen Targets
0.07Suggestive
atrial fibrillationOpen Targets
0.07Suggestive
atrial flutterOpen Targets
0.06Suggestive
immunodeficiency 88Open Targets
0.04Suggestive
Pathogenic Variants2
NM_138369.3(BOD1):c.451C>T (p.Arg151Ter)Likely pathogenic
not provided
★☆☆☆2024→ Residue 151
NM_138369.3(BOD1):c.334C>T (p.Arg112Ter)Pathogenic
not provided
★☆☆☆2022→ Residue 112
View on ClinVar ↗
Related Genes
PLK1Protein interaction100%DPY30Protein interaction100%WDR5Protein interaction100%BUB1BProtein interaction100%NDC80Protein interaction98%SKA3Protein interaction91%
Tissue Expression6 tissues
Ovary
100%
Heart
82%
Brain
64%
Liver
55%
Lung
55%
Bone Marrow
14%
Gene Interaction Network
Click a node to explore
BOD1PLK1DPY30WDR5BUB1BNDC80SKA3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96IK1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.33LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.81 [0.51–1.33]
RankingsWhere BOD1 stands among ~20K protein-coding genes
  • #12,107of 20,598
    Most Researched29
  • #4,520of 5,498
    Most Pathogenic Variants2
  • #13,990of 17,882
    Most Constrained (LOEUF)1.33
Genes detectedBOD1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
A busy BOD1-y: the diverse functions of an intracellular signaling regulatory protein family.
PMID: 41417274
Biochem Soc Trans · 2025
1.00
2
Chromosome orientation.
PMID: 17954603
J Cell Biol · 2007
0.90
3
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.
PMID: 32578875
Clin Genet · 2020
0.80
4
BOD1 Is Required for Cognitive Function in Humans and Drosophila.
PMID: 27166630
PLoS Genet · 2016
0.70
5
The Ndc80 complex targets Bod1 to human mitotic kinetochores.
PMID: 29142109
Open Biol · 2017
0.60