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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BMP8B
bone morphogenetic protein 8b
Chromosome 1 · 1p34.2
NCBI Gene: 656Ensembl: ENSG00000116985.12HGNC: HGNC:1075UniProt: P34820
34PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
negative regulation of cell differentiationGO:0005615BMP signaling pathwaycytokine activityAbnormality of the gastrointestinal tractdiabetes mellitushemorrhoidtooth disease
✦AI Summary

BMP8B (bone morphogenetic protein 8b) is a member of the transforming growth factor-beta superfamily with diverse physiological roles. Primarily, BMP8B promotes bone and cartilage formation and plays roles in calcium regulation and bone homeostasis 1. BMP8B functions through SMAD2/3 and SMAD1/5/9 signaling pathways to regulate cellular differentiation and developmental processes 2. In reproductive biology, BMP8B mutations are associated with primary ovarian insufficiency (POI), highlighting its importance in ovarian development and meiosis 1. BMP8B also regulates thermogenesis in brown adipose tissue, emerging as a potential therapeutic target for obesity management 34. Clinically, elevated hepatic BMP8B expression correlates with disease severity in non-alcoholic steatohepatitis (NASH), where it promotes hepatic stellate cell activation via TGF-β-BMP signaling, driving inflammation and fibrosis 25. BMP8B inhibition represents a promising therapeutic approach for NASH, given its near-absence in healthy livers 2. Additionally, BMP8B has been implicated in broader metabolic-associated fatty liver disease pathophysiology 6, and its expression is dysregulated in inflammatory bowel disease 7. These findings position BMP8B as a multifunctional regulator with significant disease relevance in metabolic, developmental, and inflammatory pathologies.

Sources cited
1
BMP8B is associated with primary ovarian insufficiency and is implicated in ovarian development and meiosis pathways
PMID: 34794894
2
BMP8B increases with NASH disease stage, signals via SMAD2/3 and SMAD1/5/9 pathways in hepatic stellate cells, and BMP8B absence prevents HSC activation and reduces NASH progression
PMID: 32694734
3
BMP8B is a molecule involved in brown adipose tissue thermogenesis and is a potential drug target to combat obesity
PMID: 24915455
4
Brown adipose tissue and thermogenic regulation are relevant to obesity treatment
PMID: 30976490
5
BMP8B plays important roles in activating hepatic stellate cells in MAFLD/MASH pathophysiology
PMID: 32998095
6
BMP8B is an osteokine with negative impact on the liver that may exacerbate NAFLD
PMID: 39225951
7
BMP8B expression is differentially regulated in ulcerative colitis and Crohn's disease
PMID: 34680872
8
BMP8B is among BMP agonists upregulated in enamel renal syndrome, associated with BMP/SMAD signaling pathway activation
PMID: 37159186
Disease Associationsⓘ20
Abnormality of the gastrointestinal tractOpen Targets
0.24Weak
diabetes mellitusOpen Targets
0.22Weak
hemorrhoidOpen Targets
0.16Weak
tooth diseaseOpen Targets
0.14Weak
musculoskeletal system diseaseOpen Targets
0.13Weak
spondylolisthesisOpen Targets
0.13Weak
non-alcoholic steatohepatitisOpen Targets
0.09Suggestive
intestinal diseaseOpen Targets
0.09Suggestive
gastric cancerOpen Targets
0.09Suggestive
azoospermiaOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 59Open Targets
0.07Suggestive
spermatogenic failure 60Open Targets
0.07Suggestive
spermatogenic failure 73Open Targets
0.07Suggestive
spermatogenic failure 74Open Targets
0.07Suggestive
spermatogenic failure 61Open Targets
0.07Suggestive
spermatogenic failure 62Open Targets
0.07Suggestive
spermatogenic failure 88Open Targets
0.07Suggestive
spermatogenic failure 12Open Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BMPR1AProtein interaction100%BMPR1BProtein interaction99%ACVR1Protein interaction94%ACVR2AProtein interaction94%ACVR2BProtein interaction94%BMP7Protein interaction94%
Tissue Expression6 tissues
Brain
100%
Ovary
40%
Bone Marrow
39%
Lung
25%
Liver
24%
Heart
19%
Gene Interaction Network
Click a node to explore
BMP8BBMPR1ABMPR1BACVR1ACVR2AACVR2BBMP7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P34820
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.84 [0.56–1.30]
RankingsWhere BMP8B stands among ~20K protein-coding genes
  • #11,119of 20,598
    Most Researched34
  • #13,650of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedBMP8B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetics of ovarian insufficiency and defects of folliculogenesis.
PMID: 34794894
Best Pract Res Clin Endocrinol Metab · 2022
1.00
2
Bone morphogenetic protein 8B promotes the progression of non-alcoholic steatohepatitis.
PMID: 32694734
Nat Metab · 2020
0.90
3
Osteokines in Nonalcoholic Fatty Liver Disease.
PMID: 39225951
Curr Obes Rep · 2024
0.80
4
Small molecules for fat combustion: targeting obesity.
PMID: 30976490
Acta Pharm Sin B · 2019
0.70
5
Pathophysiological mechanisms underlying MAFLD.
PMID: 32998095
Diabetes Metab Syndr · 2020
0.60