BMP8B

Chr 1

bone morphogenetic protein 8b

Also known as: BMP8, OP2

NCBI Gene: 656ENSG00000116985UniProt: P34820OMIM: 602284

This protein is a secreted signaling molecule of the TGF-beta superfamily that induces cartilage and bone formation and plays a role in calcium regulation and bone homeostasis. The gene is not highly constrained against loss-of-function variants (pLI 0.0002, LOEUF 1.27), and no definitive Mendelian disease associations have been established for this gene in the provided data.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.27
Clinical Summary— BMP8B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.27LOEUF
pLI 0.000
Z-score 0.96
OE 0.68 (0.38–1.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.67Z-score
OE missense 0.86 (0.75–0.98)
146 obs / 170.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.68 (0.38–1.27)
0≤0.351.4
Missense OE0.86 (0.75–0.98)
0≤0.61.4
Synonymous OE0.87
0≤1.21.6
LoF obs/exp: 7 / 10.3Missense obs/exp: 146 / 170.5Syn Z: 0.85
DN
0.6937th %ile
GOF
0.5071th %ile
LOF
0.3261th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BMP8B · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Circulatory bone morphogenetic protein (BMP) 8B is a non-invasive predictive biomarker for the diagnosis of non-alcoholic steatohepatitis (NASH)
Mounika N et al.·PLoS One
2023
Expression of Cytokine-Coding Genes BMP8B, LEFTY1 and INSL5 Could Distinguish between Ulcerative Colitis and Crohn's Disease
Skok DJ et al.·Genes (Basel)
2021
Bone Morphogenetic Protein-8B Levels at Birth and in the First Year of Life: Relation to Metabolic-Endocrine Variables and Brown Adipose Tissue Activity
Garcia-Beltran C et al.·Front Pediatr
2022
The relationship of antipsychotic treatment with reduced brown adipose tissue activity in patients with schizophrenia.
Chen PY et al.·Psychoneuroendocrinology
2022Cohort
Enigmatic Nodal and Lefty gene repertoire discrepancy: Latent evolutionary history revealed by vertebrate-wide phylogeny
Kuraku S·Dev Dyn
2024
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Bone morphogenetic protein 8B (BMP8B) increases the glucose sensitivity of ventromedial hypothalamus (VMH) glucose-inhibited (GI) neurons in female mice.
Hirschberg PR et al.·MicroPubl Biol
2025Open Access
Putative Dual Roles of Bone Morphogenetic Protein 8B (BMP8B) in Disease Progression of Gastric Cancer.
Sun Z et al.·Cancer Diagn Progn
2024Open Access
p200CUX1-regulated BMP8B inhibits the progression of acute myeloid leukemia via the MAPK signaling pathway.
Wang M et al.·Med Oncol
2024
BMP8B Activates Both SMAD2/3 and NF-κB Signals to Inhibit the Differentiation of 3T3-L1 Preadipocytes into Mature Adipocytes.
Zhong S et al.·Nutrients
2023Open Access
Obesity induces resistance to central action of BMP8B through a mechanism involving the BBSome.
Rial-Pensado E et al.·Mol Metab
2022Open AccessFunctional
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients