TGF beta receptor 2

Last updated
TGFBR2
Protein TGFBR2 PDB 1ktz.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases TGFBR2 , AAT3, FAA3, LDS1B, LDS2, LDS2B, MFS2, RIIC, TAAD2, TGFR-2, TGFbeta-RII, transforming growth factor beta receptor 2, TBR-ii, TBRII
External IDs OMIM: 190182 MGI: 98729 HomoloGene: 2435 GeneCards: TGFBR2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001024847
NM_003242

NM_009371
NM_029575

RefSeq (protein)

NP_001020018
NP_003233

NP_033397
NP_083851

Location (UCSC) Chr 3: 30.61 – 30.69 Mb Chr 9: 115.91 – 116 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transforming growth factor, beta receptor II (70/80kDa) is a TGF beta receptor. TGFBR2 is its human gene.

It is a tumor suppressor gene. [5]

Function

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:

Domain architecture

Transforming growth factor beta receptor 2 ectodomain
PDB 1m9z EBI.jpg
crystal structure of human tgf-beta type ii receptor ligand binding domain
Identifiers
SymbolecTbetaR2
Pfam PF08917
InterPro IPR015013
Available protein structures:
Pfam   structures / ECOD  
PDB RCSB PDB; PDBe; PDBj
PDBsum structure summary

TGF beta receptor 2 consists of a C-terminal protein 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]

See also

Related Research Articles

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Mothers against decapentaplegic homolog 2 also known as SMAD family member 2 or SMAD2 is a protein that in humans is encoded by the SMAD2 gene. MAD homolog 2 belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways.

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<span class="mw-page-title-main">Mothers against decapentaplegic homolog 6</span> Protein-coding gene in the species Homo sapiens

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Mothers against decapentaplegic homolog 7 or SMAD7 is a protein that in humans is encoded by the SMAD7 gene.

The transforming growth factor beta (TGFB) signaling pathway is involved in many cellular processes in both the adult organism and the developing embryo including cell growth, cell differentiation, cell migration, apoptosis, cellular homeostasis and other cellular functions. The TGFB signaling pathways are conserved. In spite of the wide range of cellular processes that the TGFβ signaling pathway regulates, the process is relatively simple. TGFβ superfamily ligands bind to a type II receptor, which recruits and phosphorylates a type I receptor. The type I receptor then phosphorylates receptor-regulated SMADs (R-SMADs) which can now bind the coSMAD SMAD4. R-SMAD/coSMAD complexes accumulate in the nucleus where they act as transcription factors and participate in the regulation of target gene expression.

<span class="mw-page-title-main">BMPR1A</span> Bone morphogenetic protein receptor

The bone morphogenetic protein receptor, type IA also known as BMPR1A is a protein which in humans is encoded by the BMPR1A gene. BMPR1A has also been designated as CD292.

<span class="mw-page-title-main">ACVR1B</span> Protein-coding gene in humans

Activin receptor type-1B is a protein that in humans is encoded by the ACVR1B gene.

<span class="mw-page-title-main">ACVR2A</span> Protein-coding gene in the species Homo sapiens

Activin receptor type-2A is a protein that in humans is encoded by the ACVR2A gene. ACVR2A is an activin type 2 receptor.

<span class="mw-page-title-main">ACVR2B</span> Protein-coding gene in the species Homo sapiens

Activin receptor type-2B is a protein that in humans is encoded by the ACVR2B gene. ACVR2B is an activin type 2 receptor.

<span class="mw-page-title-main">Endoglin</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">TGFBR3</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">TGF beta receptor 1</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">GDF2</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">BMPR1B</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">ACVRL1</span> Protein-coding gene in humans

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<span class="mw-page-title-main">Caveolin 1</span> Protein-coding gene in the species Homo sapiens

Caveolin-1 is a protein that in humans is encoded by the CAV1 gene.

<span class="mw-page-title-main">Transforming growth factor, beta 3</span> Protein-coding gene in the species Homo sapiens

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<span class="mw-page-title-main">ETV1</span> Protein-coding gene in the species Homo sapiens

ETS translocation variant 1 is a protein that in humans is encoded by the ETV1 gene.

<span class="mw-page-title-main">STRAP</span> Protein-coding gene in the species Homo sapiens

Serine-threonine kinase receptor-associated protein is an enzyme that in humans is encoded by the STRAP gene.

The transforming growth factor beta (TGFβ) receptors are a family of serine/threonine kinase receptors involved in TGF beta signaling pathway. These receptors bind growth factor and cytokine signaling proteins in the TGF-beta family such as TGFβs, bone morphogenetic proteins (BMPs), growth differentiation factors (GDFs), activin and inhibin, myostatin, anti-Müllerian hormone (AMH), and NODAL.

References

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  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000032440 - Ensembl, May 2017
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  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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This article incorporates text from the public domain Pfam and InterPro: IPR015013