bone morphogenetic protein 7
Annotations refreshed 9 hours ago.
Moderate Evidence (Amber)
Structural eye disease
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedCAKUT
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedOcular coloboma
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedInguinal hernia
Hernia of the abdominal wall
congenital heart defects, multiple types, 4
ventricular septal defect 1
nodular goiter
skin disorder
colorectal cancer
ventral hernia
Hernia
connective tissue disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Bone morphogenetic protein 7
Growth factor of the TGF-beta superfamily that plays important role in various biological processes, including embryogenesis, hematopoiesis, neurogenesis and skeletal morphogenesis (PubMed:31208997). Initiates the canonical BMP signaling cascade by associating with type I receptor ACVR1 and type II receptor ACVR2A (PubMed:12667445, PubMed:9748228). Once all three components are bound together in a complex at the cell surface, ACVR2A phosphorylates and activates ACVR1. In turn, ACVR1 propagates signal by phosphorylating SMAD1/5/8 that travel to the nucleus and act as activators and repressors of transcription of target genes (PubMed:12478285). For specific functions such as growth cone collapse in developing spinal neurons and chemotaxis of monocytes, also uses BMPR2 as type II receptor (PubMed:31208997). Can also signal through non-canonical pathways such as P38 MAP kinase signaling cascade that promotes brown adipocyte differentiation through activation of target genes, including members of the SOX family of transcription factors (PubMed:27923061). Promotes the expression of HAMP, this is repressed by its interaction with ERFE (PubMed:30097509)
BMP7 · P18075
Mean pLDDT
76.2/ 100
Confident
431 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
