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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BMPER
BMP binding endothelial regulator
Chromosome 7 Β· 7p14.3
NCBI Gene: 168667Ensembl: ENSG00000164619.10HGNC: HGNC:24154UniProt: A0A090N7U6
37PubMed Papers
21Diseases
0Drugs
20Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of SMAD protein signal transductionpositive regulation of sprouting angiogenesisGO:0005615regulation of endothelial cell migrationdiaphanospondylodysostosisneurodegenerative diseaseocular hypotensionactinic keratosis
✦AI Summary

BMPER (BMP binding endothelial regulator) is a secreted extracellular protein that functions as a BMP pathway inhibitor with diverse roles in vascular and skeletal development. Primary Function: BMPER regulates bone morphogenetic protein (BMP) signaling by binding BMPs and modulating their bioavailability. It acts as a positive regulator of angiogenesis and sprouting angiogenesis in endothelial cells 1, while also serving as a marker and positive modulator of adipogenesis in adipose tissue 2. Mechanism: BMPER suppresses BMP-induced SMAD1/5 phosphorylation and can modulate multiple signaling pathways including PI3K/AKT and YAP/LRP1 interactions in different cell types 13. During vascular remodeling, high fluid shear stress elevates KLF2-induced BMPER expression to suppress Smad1/5 and facilitate vessel outward remodeling 4. Disease Relevance: BMPER mutations cause diaphanospondylodysostosis (DSD), a rare skeletal dysplasia characterized by spinal and rib anomalies with variable phenotypic severity 5. BMPER dysregulation contributes to pulmonary arterial hypertension through excessive smooth muscle cell proliferation 13, and elevated BMPER is implicated in hemochromatosis via the SUGP2/CIRBP/BMPER axis regulating hepcidin expression 6. Clinical Significance: BMPER is essential for proper podocyte development and kidney structure maintenance 7, and therapeutic BMPER targeting shows promise for treating pulmonary hypertension and ischemic vascular disease.

Sources cited
1
BMPER promotes YAP activation through LRP1 in pulmonary artery smooth muscle cells; BMPER depletion attenuates pulmonary hypertension
PMID: 40964716
2
BMPER inhibits PI3K/AKT signaling in endothelial cells and BMP4 activity in smooth muscle cells; BMPER overexpression alleviates pulmonary arterial hypertension
PMID: 40383173
3
High fluid shear stress elevates KLF2-induced BMPER to suppress Smad1/5 and promote vessel outward remodeling
PMID: 39196179
4
BMPER is a conserved marker of adipose progenitor cells and adipocytes; required for adipogenesis in 3T3-L1 preadipocytes and mouse APCs
PMID: 37311809
5
Pathogenic variants in BMPER cause diaphanospondylodysostosis, a rare skeletal dysplasia with spinal and rib anomalies
PMID: 35240322
6
SUGP2 p.(Arg639Gln) variant increases BMPER expression via CIRBP, downregulating hepcidin and contributing to hemochromatosis pathogenesis
PMID: 38800953
7
BMPER is a WT1-targeted gene crucial for podocyte development and structure maintenance
PMID: 38810140
8
BMPER is a BMP antagonist with decreased expression in enamel renal syndrome dental pulp tissues showing altered BMP signaling
PMID: 37159186
Disease Associationsβ“˜21
diaphanospondylodysostosisOpen Targets
0.75Strong
neurodegenerative diseaseOpen Targets
0.37Weak
ocular hypotensionOpen Targets
0.32Weak
actinic keratosisOpen Targets
0.31Weak
benign soft tissue neoplasmOpen Targets
0.29Weak
ArthropathyOpen Targets
0.28Weak
secondary malignant neoplasmOpen Targets
0.26Weak
polycystic ovary syndromeOpen Targets
0.22Weak
glaucomaOpen Targets
0.20Weak
congestive heart failureOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
rheumatic heart diseaseOpen Targets
0.18Weak
preeclampsiaOpen Targets
0.18Weak
mouth neoplasmOpen Targets
0.17Weak
osteonecrosisOpen Targets
0.11Weak
ovarian cancerOpen Targets
0.07Suggestive
Failure to thriveOpen Targets
0.07Suggestive
Insulin resistanceOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
DiaphanospondylodysostosisUniProt
Pathogenic Variants20
NM_001365308.1(BMPER):c.925C>T (p.Gln309Ter)Pathogenic
Diaphanospondylodysostosis|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 309
NM_001365308.1(BMPER):c.721C>T (p.Arg241Ter)Likely pathogenic
Diaphanospondylodysostosis
β˜…β˜…β˜†β˜†2024β†’ Residue 241
NM_001365308.1(BMPER):c.674T>A (p.Leu225Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 225
NM_001365308.1(BMPER):c.816C>A (p.Cys272Ter)Pathogenic
not provided|BMPER-related disorder
β˜…β˜†β˜†β˜†2025β†’ Residue 272
NM_001365308.1(BMPER):c.531_535dup (p.Phe179fs)Likely pathogenic
Diaphanospondylodysostosis
β˜…β˜†β˜†β˜†2024β†’ Residue 179
NM_001365308.1(BMPER):c.1648_1649del (p.Val550fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 550
NM_001365308.1(BMPER):c.403-2A>CLikely pathogenic
Diaphanospondylodysostosis
β˜…β˜†β˜†β˜†2024
NM_001365308.1(BMPER):c.1075G>T (p.Glu359Ter)Likely pathogenic
Diaphanospondylodysostosis
β˜…β˜†β˜†β˜†2024β†’ Residue 359
NM_001365308.1(BMPER):c.655C>T (p.Gln219Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 219
NM_001365308.1(BMPER):c.1259C>A (p.Ser420Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 420
NM_001365308.1(BMPER):c.1577G>A (p.Trp526Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 526
NM_001365308.1(BMPER):c.501_502del (p.Val167_Phe168insTer)Pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 167
NM_001365308.1(BMPER):c.416C>G (p.Thr139Arg)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 139
NM_001365308.1(BMPER):c.942G>A (p.Trp314Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2015β†’ Residue 314
NM_001365308.1(BMPER):c.219+1G>CLikely pathogenic
HP:0003549
β˜†β˜†β˜†β˜†2024
NM_001365308.1(BMPER):c.410T>A (p.Val137Asp)Pathogenic
Diaphanospondylodysostosis
β˜†β˜†β˜†β˜†2019β†’ Residue 137
NM_001365308.1(BMPER):c.1638T>A (p.Cys546Ter)Pathogenic
Diaphanospondylodysostosis
β˜†β˜†β˜†β˜†2010β†’ Residue 546
NM_001365308.1(BMPER):c.1109C>T (p.Pro370Leu)Pathogenic
Diaphanospondylodysostosis
β˜†β˜†β˜†β˜†2010β†’ Residue 370
NM_001365308.1(BMPER):c.1078+5G>APathogenic
Diaphanospondylodysostosis
β˜†β˜†β˜†β˜†2010
NM_001365308.1(BMPER):c.26_35delinsAGACCAGAGCGGCG (p.Ala9fs)Pathogenic
Diaphanospondylodysostosis
β˜†β˜†β˜†β˜†2010β†’ Residue 9
View on ClinVar β†—
Related Genes
BMP2Protein interaction80%BMP4Protein interaction80%BMP6Protein interaction80%BMP7Protein interaction80%CHRDProtein interaction80%TWSG1Protein interaction80%
Tissue Expression6 tissues
Lung
100%
Liver
84%
Ovary
63%
Brain
52%
Heart
27%
Bone Marrow
5%
Gene Interaction Network
Click a node to explore
BMPERBMP2BMP4BMP6BMP7CHRDTWSG1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8N8U9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.65LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.51 [0.40–0.65]
RankingsWhere BMPER stands among ~20K protein-coding genes
  • #10,594of 20,598
    Most Researched37
  • #2,204of 5,498
    Most Pathogenic Variants20
  • #4,743of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedBMPER
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Kidney Organoid Modeling of WT1 Mutations Reveals Key Regulatory Paths Underlying Podocyte Development.
PMID: 38810140
Adv Sci (Weinh) Β· 2024
1.00
2
BMPER is a marker of adipose progenitors and adipocytes and a positive modulator of adipogenesis.
PMID: 37311809
Commun Biol Β· 2023
0.90
3
Further evidence for attenuated phenotype with variants in the BMPER gene causing DSD: Case report and literature review.
PMID: 35240322
Eur J Med Genet Β· 2022
0.80
4
SUGP2 p.(Arg639Gln) variant is involved in the pathogenesis of hemochromatosis via the CIRBP/BMPER signaling pathway.
PMID: 38800953
Am J Hematol Β· 2024
0.70
5
FAM20A mutations and transcriptome analyses of dental pulp tissues of enamel renal syndrome.
PMID: 37159186
Int Endod J Β· 2023
0.60