This gene encodes a member of the
serine/threonine protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with
Marfan syndrome,
Loeys-Deitz aortic aneurysm syndrome,
Osler–Weber–Rendu syndrome, and the development of various types of tumors. At least 73 disease-causing mutations in this gene have been discovered.[6] Alternatively spliced transcript variants encoding different isoforms have been characterized.[7]
Interactions
TGF beta receptor 2 has been shown to
interact with:
TGF beta receptor 2 consists of a
C-terminalprotein kinase domain and an
N-terminal ectodomain. The ectodomain consists of a compact
fold containing nine beta-strands and a single
helix stabilised by a network of six intra strand
disulphide bonds. The
folding topology includes a central five-stranded
antiparallel beta-sheet, eight-residues long at its centre, covered by a second layer consisting of two segments of two-stranded antiparallel
beta-sheets (beta1-beta4, beta3-beta9).[18]
^De Crescenzo G, Pham PL, Durocher Y, O'Connor-McCourt MD (May 2003). "Transforming growth factor-beta (TGF-beta) binding to the extracellular domain of the type II TGF-beta receptor: receptor capture on a biosensor surface using a new coiled-coil capture system demonstrates that avidity contributes significantly to high affinity binding". Journal of Molecular Biology. 328 (5): 1173–83.
doi:
10.1016/s0022-2836(03)00360-7.
PMID12729750.
^
abHart PJ, Deep S, Taylor AB, Shu Z, Hinck CS, Hinck AP (Mar 2002). "Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex". Nature Structural Biology. 9 (3): 203–8.
doi:
10.1038/nsb766.
PMID11850637.
S2CID13322593.
This gene encodes a member of the
serine/threonine protein kinase family and the TGFB receptor subfamily. The encoded protein is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with another receptor protein, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of a subset of genes related to cell proliferation. Mutations in this gene have been associated with
Marfan syndrome,
Loeys-Deitz aortic aneurysm syndrome,
Osler–Weber–Rendu syndrome, and the development of various types of tumors. At least 73 disease-causing mutations in this gene have been discovered.[6] Alternatively spliced transcript variants encoding different isoforms have been characterized.[7]
Interactions
TGF beta receptor 2 has been shown to
interact with:
TGF beta receptor 2 consists of a
C-terminalprotein kinase domain and an
N-terminal ectodomain. The ectodomain consists of a compact
fold containing nine beta-strands and a single
helix stabilised by a network of six intra strand
disulphide bonds. The
folding topology includes a central five-stranded
antiparallel beta-sheet, eight-residues long at its centre, covered by a second layer consisting of two segments of two-stranded antiparallel
beta-sheets (beta1-beta4, beta3-beta9).[18]
^De Crescenzo G, Pham PL, Durocher Y, O'Connor-McCourt MD (May 2003). "Transforming growth factor-beta (TGF-beta) binding to the extracellular domain of the type II TGF-beta receptor: receptor capture on a biosensor surface using a new coiled-coil capture system demonstrates that avidity contributes significantly to high affinity binding". Journal of Molecular Biology. 328 (5): 1173–83.
doi:
10.1016/s0022-2836(03)00360-7.
PMID12729750.
^
abHart PJ, Deep S, Taylor AB, Shu Z, Hinck CS, Hinck AP (Mar 2002). "Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex". Nature Structural Biology. 9 (3): 203–8.
doi:
10.1038/nsb766.
PMID11850637.
S2CID13322593.