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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
BMP4
bone morphogenetic protein 4
Chromosome 14 Β· 14q22.2
NCBI Gene: 652Ensembl: ENSG00000125378.17HGNC: HGNC:1071UniProt: P12644
513PubMed Papers
22Diseases
0Drugs
16Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedHub Gene
RESEARCH IMPACT
Highly Studied
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
positive regulation of collagen biosynthetic processprotein bindingco-receptor bindingchemoattractant activitymicrophthalmia with brain and digit anomaliesorofacial cleft 11colorectal cancermyopia
✦AI Summary

BMP4 is a growth factor belonging to the TGF-beta superfamily that plays critical roles in development and cellular regulation 1. The protein functions through canonical signaling by binding to type I receptor BMPR1A and type II receptor BMPR2, leading to SMAD1/5/8 phosphorylation and transcriptional regulation 2. BMP4 also activates non-canonical pathways including ERK/MAP kinase and PI3K/Akt cascades 1. The protein demonstrates diverse biological functions including regulation of adipogenesis, where it promotes beige/brown adipocyte differentiation and is counteracted by the inhibitor Gremlin-1 in white adipose tissue 3. In embryonic development, BMP4 mediates symmetry breaking through mechanosensitive signaling involving YAP1 and tissue mechanics 4. The protein shows therapeutic potential in multiple contexts: it acts as an anti-senescent, anti-steatotic factor in NAFLD/NASH progression 5, facilitates depletion of aneuploid cells during early human embryogenesis 6, and when overexpressed in neural stem cells, can target and inhibit glioma stem cells 7. Additionally, BMP4 regulates colonic epithelial differentiation toward enterocytes 8 and modulates ovarian granulosa cell function by downregulating pentraxin 3 2.

Sources cited
1
BMP4 belongs to TGF-beta superfamily and functions through serine/threonine kinase receptor binding
PMID: 9022288
2
BMP4 signals through BMPR1A/BMPR2 receptors leading to SMAD1/5/8 phosphorylation
PMID: 25514099
3
BMP4 regulates adipogenesis and promotes beige/brown adipocyte differentiation, counteracted by Gremlin-1
PMID: 25605802
4
BMP4 mediates symmetry breaking through mechanosensitive YAP1 signaling
PMID: 41086807
5
BMP4 acts as anti-senescent and anti-steatotic factor in NAFLD/NASH
PMID: 35995996
6
BMP4 facilitates depletion of aneuploid cells during early human embryogenesis
PMID: 33837289
7
BMP4-overexpressing neural stem cells can target and inhibit glioma stem cells
PMID: 26908439
8
BMP4 regulates colonic epithelial differentiation toward enterocytes
PMID: 38684650
9
BMP4 downregulates pentraxin 3 in ovarian granulosa cells
PMID: 25514099
Disease Associationsβ“˜22
microphthalmia with brain and digit anomaliesOpen Targets
0.79Strong
orofacial cleft 11Open Targets
0.75Strong
colorectal cancerOpen Targets
0.53Moderate
myopiaOpen Targets
0.51Moderate
refractive errorOpen Targets
0.47Moderate
Stickler syndromeOpen Targets
0.47Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
benign colon neoplasmOpen Targets
0.46Moderate
hypertensionOpen Targets
0.44Moderate
colonic neoplasmOpen Targets
0.43Moderate
polyp of colonOpen Targets
0.43Moderate
Abnormality of the skeletal systemOpen Targets
0.42Moderate
genetic disorderOpen Targets
0.41Moderate
cervical disc degenerative disorderOpen Targets
0.39Weak
renal agenesisOpen Targets
0.38Weak
polydactylyOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.37Weak
BMP4-related ocular growth disorderOpen Targets
0.37Weak
renal agenesis, unilateralOpen Targets
0.37Weak
Unilateral renal agenesisOpen Targets
0.37Weak
Microphthalmia, syndromic, 6UniProt
Non-syndromic orofacial cleft 11UniProt
Pathogenic Variants16
NM_001202.6(BMP4):c.592C>T (p.Arg198Ter)Pathogenic
Orofacial cleft 11|Microphthalmia with brain and digit anomalies|Inborn genetic diseases|Microphthalmia with brain and digit anomalies;Orofacial cleft 11
β˜…β˜…β˜†β˜†2025β†’ Residue 198
NM_001202.6(BMP4):c.253del (p.Asp85fs)Likely pathogenic
Microphthalmia with brain and digit anomalies
β˜…β˜†β˜†β˜†2024β†’ Residue 85
NM_001202.6(BMP4):c.245_248dup (p.Met83fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 83
NM_001202.6(BMP4):c.602del (p.Asp201fs)Likely pathogenic
Microphthalmia with brain and digit anomalies
β˜…β˜†β˜†β˜†2024β†’ Residue 201
NM_001202.6(BMP4):c.533T>G (p.Ile178Arg)Likely pathogenic
Microphthalmia with brain and digit anomalies
β˜…β˜†β˜†β˜†2024β†’ Residue 178
NM_001202.6(BMP4):c.205_214del (p.Arg69fs)Pathogenic
Orofacial cleft 11;Microphthalmia with brain and digit anomalies
β˜…β˜†β˜†β˜†2024β†’ Residue 69
NM_001202.6(BMP4):c.277G>T (p.Glu93Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 93
NM_001202.6(BMP4):c.1118G>A (p.Cys373Tyr)Likely pathogenic
Irido-corneo-trabecular dysgenesis
β˜…β˜†β˜†β˜†2022β†’ Residue 373
NM_001202.6(BMP4):c.666del (p.Arg223fs)Likely pathogenic
See cases
β˜…β˜†β˜†β˜†2021β†’ Residue 223
NM_001202.6(BMP4):c.635G>A (p.Trp212Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 212
NM_001202.6(BMP4):c.323dup (p.Arg109fs)Likely pathogenic
Microphthalmia with brain and digit anomalies
β˜†β˜†β˜†β˜†2024β†’ Residue 109
NM_001202.6(BMP4):c.371-2A>GLikely pathogenic
Microphthalmia with brain and digit anomalies
β˜†β˜†β˜†β˜†2024
NM_001202.6(BMP4):c.171dup (p.Glu58fs)Pathogenic
Microphthalmia with brain and digit anomalies
β˜†β˜†β˜†β˜†2011β†’ Residue 58
NM_001202.6(BMP4):c.226_227del (p.Ser76fs)Pathogenic
Microphthalmia with brain and digit anomalies
β˜†β˜†β˜†β˜†2008β†’ Residue 76
NM_001202.6(BMP4):c.337C>G (p.Arg113Gly)Pathogenic
See cases
β˜†β˜†β˜†β˜†β†’ Residue 113
NM_001202.6(BMP4):c.452A>T (p.Glu151Val)Pathogenic
See cases
β˜†β˜†β˜†β˜†β†’ Residue 151
View on ClinVar β†—
Related Genes
BGNProtein interaction100%CHRDProtein interaction100%ACVR1Protein interaction100%ACVR1BProtein interaction100%ACVR2BProtein interaction100%ACVRL1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Ovary
70%
Lung
32%
Liver
19%
Brain
9%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
BMP4BGNCHRDACVR1ACVR1BACVR2BACVRL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P12644
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.26Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.10 [0.04–0.26]
RankingsWhere BMP4 stands among ~20K protein-coding genes
  • #515of 20,598
    Most Researched513 Β· top 5%
  • #2,379of 5,498
    Most Pathogenic Variants16
  • #822of 17,882
    Most Constrained (LOEUF)0.26 Β· top 5%
Genes detectedBMP4
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
BMP4 and Gremlin 1 regulate hepatic cell senescence during clinical progression of NAFLD/NASH.
PMID: 35995996
Nat Metab Β· 2022
1.00
2
Depletion of aneuploid cells in human embryos and gastruloids.
PMID: 33837289
Nat Cell Biol Β· 2021
0.90
3
Vitamin D opposes multilineage cell differentiation induced by Notch inhibition and BMP4 pathway activation in human colon organoids.
PMID: 38684650
Cell Death Dis Β· 2024
0.80
4
Crosstalk between tissue mechanics and BMP4 signaling regulates symmetry breaking in human gastrula models.
PMID: 41086807
Cell Stem Cell Β· 2025
0.70
5
BMP4 and BMP Antagonists Regulate Human White and Beige Adipogenesis.
PMID: 25605802
Diabetes Β· 2015
0.60