bone morphogenetic protein 2
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLimb disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPituitary hormone deficiency
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownVACTERL-like phenotypes
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
brachydactyly type A2
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
glaucoma
open-angle glaucoma
colorectal cancer
atrial fibrillation
nontoxic goiter
multinodular goiter
Abnormality of the skeletal system
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Bone morphogenetic protein 2
Growth factor of the TGF-beta superfamily that plays essential roles in many developmental processes, including cardiogenesis, neurogenesis, and osteogenesis (PubMed:18436533, PubMed:24362451, PubMed:31019025). Induces cartilage and bone formation (PubMed:3201241). Initiates the canonical BMP signaling cascade by associating with type I receptor BMPR1A and type II receptor BMPR2 (PubMed:15064755, PubMed:17295905, PubMed:18436533). Once all three components are bound together in a complex at the cell surface, BMPR2 phosphorylates and activates BMPR1A (PubMed:7791754). In turn, BMPR1A propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes. Also acts to promote expression of HAMP, via the interaction with its receptor BMPR1A/ALK3 (PubMed:31800957). Can also signal through non-canonical pathways such as ERK/MAP kinase signaling cascade that regulates osteoblast differentiation (PubMed:16771708, PubMed:20851880). Also stimulates the differentiation of myoblasts into osteoblasts via the EIF2AK3-EIF2A-ATF4 pathway by stimulating EIF2A phosphorylation which leads to increased expression of ATF4 which plays a central role in osteoblast differentiation (PubMed:24362451). Acts as a positive regulator of odontoblast differentiation during mesenchymal tooth germ formation, expression is repressed during the bell stage by MSX1-mediated inhibition of CTNNB1 signaling (By similarity)
Curated MONDO disease pages that list BMP2 among their top associated genes.
BMP2 · P12643
Mean pLDDT
79.6/ 100
Confident
396 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
