activin A receptor type 2B
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Diagnostic Grade (Green)
Familial non syndromic congenital heart disease
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownPaediatric disorders - additional genes
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownLaterality disorders and isomerism
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownFetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedPrimary ciliary disorders
Rare multisystem ciliopathy disorders
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSkeletal dysplasia
Unknown+1 more panels — install the extension to see the full list inline on any page.
Heterotaxia
visceral heterotaxy
bone disorder
spinal fusion
inclusion body myositis
Abnormality of the skeletal system
autoimmune disorder of central nervous system
neurodegenerative disease
disorder of pilosebaceous unit
multiple sclerosis
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Activin receptor type-2B
Transmembrane serine/threonine kinase activin type-2 receptor forming an activin receptor complex with activin type-1 serine/threonine kinase receptors (ACVR1, ACVR1B or ACVR1c). Transduces the activin signal from the cell surface to the cytoplasm and is thus regulating many physiological and pathological processes including neuronal differentiation and neuronal survival, hair follicle development and cycling, FSH production by the pituitary gland, wound healing, extracellular matrix production, immunosuppression and carcinogenesis. Activin is also thought to have a paracrine or autocrine role in follicular development in the ovary. Within the receptor complex, the type-2 receptors act as a primary activin receptors (binds activin-A/INHBA, activin-B/INHBB as well as inhibin-A/INHA-INHBA). The type-1 receptors like ACVR1B act as downstream transducers of activin signals. Activin binds to type-2 receptor at the plasma membrane and activates its serine-threonine kinase. The activated receptor type-2 then phosphorylates and activates the type-1 receptor. Once activated, the type-1 receptor binds and phosphorylates the SMAD proteins SMAD2 and SMAD3, on serine residues of the C-terminal tail. Soon after their association with the activin receptor and subsequent phosphorylation, SMAD2 and SMAD3 are released into the cytoplasm where they interact with the common partner SMAD4. This SMAD complex translocates into the nucleus where it mediates activin-induced transcription. Inhibitory SMAD7, which is recruited to ACVR1B through FKBP1A, can prevent the association of SMAD2 and SMAD3 with the activin receptor complex, thereby blocking the activin signal. Activin signal transduction is also antagonized by the binding to the receptor of inhibin-B via the IGSF1 inhibin coreceptor
ACVR2B · Q13705
Mean pLDDT
83.3/ 100
Confident
512 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
