signal peptide, CUB domain and EGF like domain containing 3
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
DDG2P
BIALLELIC, autosomal or pseudoautosomalFetal anomalies
BIALLELIC, autosomal or pseudoautosomalLimb disorders
BIALLELIC, autosomal or pseudoautosomalSkeletal dysplasia
BIALLELIC, autosomal or pseudoautosomalClefting
BIALLELIC, autosomal or pseudoautosomalshort stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
Abnormality of the dentition
Abnormal facial shape
Short stature
Abnormality of the skeletal system
short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies
systemic lupus erythematosus
hypothyroidism
placenta praevia
type 1 diabetes mellitus
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Signal peptide, CUB and EGF-like domain-containing protein 3
Is a positive regulator of the BMP signaling pathway, required for proper chondrogenesis, osteogenesis and skeletal development. It acts as a coreceptor for BMP ligands, particularly BMP2 and BMP4, facilitating their interactions with BMP type I receptors (PubMed:33308444). It is required for ligand-induced recruitment of BMP receptors to lipid rafts (By similarity). Binds to TGFBR2 and activates TGFB signaling. In lung cancer cells, could serve as an endogenous autocrine and paracrine ligand of TGFBR2, which could regulate TGFBR2 signaling and hence modulate epithelial-mesenchymal transition and cancer progression
SCUBE3 · Q8IX30
Mean pLDDT
77.1/ 100
Confident
993 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
