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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BMP5
bone morphogenetic protein 5
Chromosome 6 · 6p12.1
NCBI Gene: 653Ensembl: ENSG00000112175.9HGNC: HGNC:1072UniProt: A8K694
48PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of dendrite developmentBMP signaling pathwayprotein bindingnegative regulation of aldosterone biosynthetic processcolorectal cancerosteoarthritis, hipbenign colon neoplasmcolonic neoplasm
✦AI Summary

BMP5 is a secreted growth factor of the TGF-β superfamily with essential roles in skeletal development, iron homeostasis, and placental function. BMP5 initiates canonical BMP signaling by binding type I receptor BMPR1A and type II receptor BMPR2, leading to SMAD1/5/8 phosphorylation and nuclear translocation to regulate target gene transcription 1. The protein can also activate non-canonical pathways including MAPK p38 signaling to promote chondrogenic differentiation 2. Beyond skeletal development, BMP5 plays critical roles in systemic iron homeostasis by regulating hepcidin expression, with loss of Bmp5 alleles causing iron loading and hemochromatosis, particularly when combined with Bmp6 deficiency 3. In placental biology, BMP5 is differentially expressed between adherent and non-adherent sites in placenta accreta spectrum disorder, with reduced N-glycosylated BMP5 levels in preeclamptic placentas; N-glycosylation of BMP5 promotes trophoblast proliferation, migration, invasion, and angiogenesis via BMP5-SMAD1/5 signaling 45. In pancreatic biology, BMP5 is the predominately expressed BMP ligand in beta cells, with elevated BMP5 signaling in type 2 diabetes reducing glucose-stimulated insulin secretion, while BMP5 knockdown enhances beta cell function 6. BMP5 also contributes to mandibular ossification through paracrine signaling mechanisms 7.

Sources cited
1
BMP5 initiates canonical BMP signaling through BMPR1A and BMPR2, phosphorylating SMAD1/5/8 for transcriptional regulation
PMID: 11580864
2
BMP5 can signal through non-canonical MAPK p38 pathway to promote chondrogenic differentiation
PMID: 20402566
3
BMP5 plays a functional role in hepcidin and systemic iron homeostasis regulation, with loss of Bmp5 causing hepcidin deficiency and iron loading
PMID: 37478395
4
N-glycosylated BMP5 promotes trophoblast proliferation, migration, invasion, and angiogenesis via BMP5-SMAD1/5 signaling in preeclampsia
PMID: 39520832
5
BMP5 expression differs between adherent and non-adherent sites in placenta accreta spectrum disorder, reflecting altered stromal-endothelial cell biology
PMID: 38296740
6
BMP5 is the predominately expressed BMP ligand in pancreatic beta cells; elevated BMP5 signaling reduces glucose-stimulated insulin secretion in type 2 diabetes
PMID: 40471239
7
BMP5 acts as a signaling ligand in Meckel's cartilage to facilitate mandibular ossification through paracrine mechanisms
PMID: 40096606
Disease Associationsⓘ20
colorectal cancerOpen Targets
0.47Moderate
osteoarthritis, hipOpen Targets
0.47Moderate
benign colon neoplasmOpen Targets
0.46Moderate
colonic neoplasmOpen Targets
0.43Moderate
alcohol drinkingOpen Targets
0.43Moderate
polyp of colonOpen Targets
0.41Moderate
benign neoplasm of rectumOpen Targets
0.41Moderate
Abnormality of the skeletal systemOpen Targets
0.39Weak
total hip arthroplastyOpen Targets
0.38Weak
osteoarthritis, kneeOpen Targets
0.36Weak
Inguinal herniaOpen Targets
0.36Weak
preeclampsiaOpen Targets
0.36Weak
microtiaOpen Targets
0.36Weak
Atrioventricular canal defectOpen Targets
0.33Weak
Hypoplastic ischiopubic ramusOpen Targets
0.33Weak
Patellar aplasiaOpen Targets
0.33Weak
anal neoplasmOpen Targets
0.33Weak
rectal neoplasmOpen Targets
0.33Weak
benign neoplasm of anusOpen Targets
0.33Weak
intestinal diseaseOpen Targets
0.33Weak
Pathogenic Variants2
NM_021073.4(BMP5):c.1104+2delLikely pathogenic
Microtia;Patellar aplasia;Hypoplastic ischiopubic ramus;Atrioventricular canal defect
★☆☆☆2024
NM_021073.4(BMP5):c.88_89del (p.Gly30fs)Likely pathogenic
Microtia;Patellar aplasia;Hypoplastic ischiopubic ramus;Atrioventricular canal defect
★☆☆☆2024→ Residue 30
View on ClinVar ↗
Related Genes
BMPR1AProtein interaction100%BMPR1BProtein interaction99%ACVR1Protein interaction98%ACVR2AProtein interaction98%ACVR2BProtein interaction98%CHRDProtein interaction98%
Tissue Expression6 tissues
Lung
100%
Heart
90%
Liver
21%
Bone Marrow
7%
Brain
4%
Ovary
0%
Gene Interaction Network
Click a node to explore
BMP5BMPR1ABMPR1BACVR1ACVR2AACVR2BCHRD
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P22003
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.71LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.50 [0.35–0.71]
RankingsWhere BMP5 stands among ~20K protein-coding genes
  • #9,049of 20,598
    Most Researched48
  • #4,442of 5,498
    Most Pathogenic Variants2
  • #5,458of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedBMP5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
BMP5 contributes to hepcidin regulation and systemic iron homeostasis in mice.
PMID: 37478395
Blood · 2023
1.00
2
Placenta accreta spectrum disorder at single-cell resolution: a loss of boundary limits in the decidua and endothelium.
PMID: 38296740
Am J Obstet Gynecol · 2024
0.90
3
An atlas of early human mandibular endochondral and osteogenic paracrine signaling regions of Meckel's cartilage.
PMID: 40096606
Proc Natl Acad Sci U S A · 2025
0.80
4
Bone morphogenetic proteins.
PMID: 2491264
Prog Growth Factor Res · 1989
0.70
5
BMP5 signalling in beta cells and the impact on insulin secretion in the context of type 2 diabetes.
PMID: 40471239
Diabetologia · 2025
0.60