TGFBR2 - transforming growth factor beta receptor 2 Gene
Also Known as AAT3; FAA3; LDS2; MFS2; RIIC; LDS1B; LDS2B; TAAD2; TBRII; TBR-ii; TGFR-2; tbetaR-II; TGFbeta-RII
Species: Homo sapiens
About TGFBR2
This gene has 6 transcripts (splice variants), 263 orthologues, 11 paralogues and is associated with 122 phenotypes. Ubiquitous expression in fat (RPKM 81.0), lung (RPKM 74.9) and 25 other tissues.
Summary
The protein encoded by this gene is a transmembrane protein that has a protein kinase domain, forms a heterodimeric complex with TGF-beta Receptor type-1, and binds TGF-beta. This receptor/ligand complex phosphorylates proteins, which then enter the nucleus and regulate the transcription of genes related to cell proliferation, cell cycle arrest, wound healing, immunosuppression, and tumorigenesis. Mutations in this gene have been associated with Marfan Syndrome, Loeys-Deitz Aortic Aneurysm Syndrome, and the development of various types of tumors. Alternatively spliced transcript variants encoding different isoforms have been characterized. [provided by RefSeq, Aug 2017]
TGFBR2 Products (18)
| mRNA | Protein | Name |
|---|---|---|
| NM_001407126.1 | NP_001394055.1 | TGF-beta receptor type-2 isoform C precursor |
| NM_001407132.1 | NP_001394061.1 | TGF-beta receptor type-2 isoform H |
| NM_001407138.1 | NP_001394067.1 | TGF-beta receptor type-2 isoform J |
| NM_001407134.1 | NP_001394063.1 | TGF-beta receptor type-2 isoform H |
| NM_001407130.1 | NP_001394059.1 | TGF-beta receptor type-2 isoform G precursor |
| XM_011534045.4 | XP_011532347.1 | TGF-beta receptor type-2 isoform X3 |
| NM_001407137.1 | NP_001394066.1 | TGF-beta receptor type-2 isoform I precursor |
| NM_001407127.1 | NP_001394056.1 | TGF-beta receptor type-2 isoform D precursor |
| NM_003242.6 | NP_003233.4 | TGF-beta receptor type-2 isoform B precursor |
| NM_001407133.1 | NP_001394062.1 | TGF-beta receptor type-2 isoform H |
| XM_011534043.3 | XP_011532345.1 | TGF-beta receptor type-2 isoform X1 |
| NM_001024847.3 | NP_001020018.1 | TGF-beta receptor type-2 isoform A precursor |
| XM_047448787.1 | XP_047304743.1 | TGF-beta receptor type-2 isoform X2 |
| NM_001407139.1 | NP_001394068.1 | TGF-beta receptor type-2 isoform K precursor |
| NM_001407129.1 | NP_001394058.1 | TGF-beta receptor type-2 isoform F |
| NM_001407135.1 | NP_001394064.1 | TGF-beta receptor type-2 isoform H |
| NM_001407128.1 | NP_001394057.1 | TGF-beta receptor type-2 isoform E |
| NM_001407136.1 | NP_001394065.1 | TGF-beta receptor type-2 isoform H |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in caveola |
IDA
IDA: Inferred from direct assay
|
17878231 | GOA |
| located in external side of plasma membrane |
IDA
IDA: Inferred from direct assay
|
18453574 | GOA |
| located in extracellular space |
IDA
IDA: Inferred from direct assay
|
34568316 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
7852346 | GOA |
| located in membrane raft |
IDA
IDA: Inferred from direct assay
|
25893292 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
25893292 | GOA |
| part of receptor complex |
IDA
IDA: Inferred from direct assay
|
7852346 | GOA |
| part of transforming growth factor beta ligand-receptor complex |
IPI
IPI: Inferred from physical interaction
|
18243111 | GOA |
TGFBR2 Protein Structure
ecTbetaR2: Transforming growth factor beta receptor 2 ectodomain (48 - 160)
Pkinase: Protein kinase domain (246 - 536)
- 0
- 100
- 200
- 300
- 400
- 500
- 567 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
TGF-beta receptor type-2 |
|
|
TGFBR2 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TGFBR2 | P37173 | TGFB3 | Homo sapiens | P10600 | 21423151 | |
|
Intra
|
TGFBR2 | P37173 | TGFB3 | Homo sapiens | P10600 | 21423151 | |
|
Intra
|
TGFBR2 | P37173 | NPLOC4 | Homo sapiens | Q8TAT6 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | NPLOC4 | Homo sapiens | Q8TAT6 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | NPLOC4 | Homo sapiens | Q8TAT6 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ATP2A3 | Homo sapiens | Q93084-2 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ATP2A3 | Homo sapiens | Q93084-2 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ATP2A3 | Homo sapiens | Q93084-2 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ISY1 | Homo sapiens | Q9ULR0 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ISY1 | Homo sapiens | Q9ULR0 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ISY1 | Homo sapiens | Q9ULR0 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | RILP | Homo sapiens | Q96NA2 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | RILP | Homo sapiens | Q96NA2 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | RILP | Homo sapiens | Q96NA2 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ITGAV | Homo sapiens | P06756 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ITGAV | Homo sapiens | P06756 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ITGAV | Homo sapiens | P06756 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | RPL37A | Homo sapiens | P61513 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | MED12 | Homo sapiens | Q93074 | 23178117 | |
|
Intra
|
TGFBR2 | P37173 | MED12 | Homo sapiens | Q93074 | 23178117 | |
|
Intra
|
TGFBR2 | P37173 | MYC | Homo sapiens | P01106 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | MYC | Homo sapiens | P01106 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | MYC | Homo sapiens | P01106 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | SCUBE3 | Homo sapiens | Q8IX30 | 21441952 | |
|
Intra
|
TGFBR2 | P37173 | SCUBE3 | Homo sapiens | Q8IX30 | 21441952 | |
|
Intra
|
TGFBR2 | P37173 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | HTT | Homo sapiens | P42858 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | PTN | Homo sapiens | P21246 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | PTN | Homo sapiens | P21246 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | PTN | Homo sapiens | P21246 | 32814053 | |
|
Cross
|
TGFBR2 | P37173 | Med12 | Mus musculus | A2AGH6 | 23178117 | |
|
Cross
|
TGFBR2 | P37173 | Med12 | Mus musculus | A2AGH6 | 23178117 | |
|
Intra
|
TGFBR2 | P37173 | IDH1 | Homo sapiens | O75874 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | IDH1 | Homo sapiens | O75874 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | IDH1 | Homo sapiens | O75874 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | DPYSL4 | Homo sapiens | O14531 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | DPYSL4 | Homo sapiens | O14531 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | DPYSL4 | Homo sapiens | O14531 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | CDH1 | Homo sapiens | P12830 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | CDH1 | Homo sapiens | P12830 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | CDH1 | Homo sapiens | P12830 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | DAXX | Homo sapiens | Q9UER7 | 11483955 | |
|
Intra
|
TGFBR2 | P37173 | TGFB1 | Homo sapiens | P01137 | 21054789 | |
|
Intra
|
TGFBR2 | P37173 | TGFB1 | Homo sapiens | P01137 | 35443807 | |
|
Intra
|
TGFBR2 | P37173 | TGFB1 | Homo sapiens | P01137 | 21441952 | |
|
Intra
|
TGFBR2 | P37173 | ATXN1 | Homo sapiens | P54253 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ATXN1 | Homo sapiens | P54253 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ATXN1 | Homo sapiens | P54253 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ATXN3 | Homo sapiens | P54252 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ATXN3 | Homo sapiens | P54252 | 32814053 | |
|
Intra
|
TGFBR2 | P37173 | ATXN3 | Homo sapiens | P54252 | 32814053 | |
|
Cross
|
TGFBR2 | P37173 | TGFB1 | Sus scrofa | P07200 | 16530041 |
Recombinant TGFBR2 Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7426 | TGFBR2/TGF-beta RII Protein, Human (HEK293, Fc) | P37173-1 (T23-D159) | ≥ 95%, as determined by reducing SDS-PAGE. |
| HY-P73428 | TGFBR2/TGF-beta RII Protein, Human (sf9, His) | P37173-1 (T23-Q166) | ≥ 90%, as determined by reducing SDS-PAGE. |
| HY-P78215 | TGFBR2/TGF-beta RII Protein, Human (Biotinylated, HEK293, Fc-Avi) | P37173-1 (I24-D159) | ≥ 95%, as determined by Bis-Tris PAGE. |
| HY-P78524 | TGFBR2/TGF-beta RII Protein, Human (HEK293, mFc-Avi) | P37173-1 (I24-D159) | ≥ 95%, as determined by Bis-Tris PAGE. |
| HY-P78800 | TGFBR2/TGF-beta RII Protein, Human (Biotinylated, HEK293, His-Avi) | P37173-1 (T23-D159) | ≥ 90%, as determined by reducing SDS-PAGE. |
TGFBR2 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81131 | TGF beta Receptor II Antibody | WB, ELISA, IHC-P, ICC/IF | Human, Mouse, Rat |
| HY-P85969 | TGF beta Receptor II Antibody (YA5661) | IHC-P, WB, ICC/IF, ELISA | Human |
| HY-P86481 | TGF beta Receptor II Antibody (YA6173) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Vitreoretinopathy, Neovascular Inflammatory |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Pulsating Exophthalmos |
|
|
| Mitral Valve Disease |
|
|
| Squamous Cell Carcinoma, Head And Neck |
|
|
| Colorectal Cancer 6 |
|
|
| Nasopharyngeal Carcinoma |
|
|
| Colorectal Cancer |
|
|
| Basal Cell Carcinoma |
|
|
| Connective Tissue Disease |
|
|
| Hepatocellular Carcinoma |
|
|
| Loeys-Dietz Syndrome 1 |
|
|
| Loeys-Dietz Syndrome 4 |
|
|
| Breast Cancer |
|
|
| Lynch Syndrome |
|
|
| Gastric Cancer |
|
|
| Multiple Self-Healing Squamous Epithelioma |
|
|
| Cleft Palate, Isolated |
|
|
| Mitochondrial Dna Depletion Syndrome 12b |
|
|
| Craniosynostosis |
|
|
| Lipoprotein Quantitative Trait Locus |
|
|
| Lung Cancer |
|
|
| Aortic Aneurysm, Familial Thoracic 4 |
|
|
| Loeys-Dietz Syndrome 3 |
|
|
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
|
| Pancreatic Adenocarcinoma |
|
|
| Prostate Cancer |
|
|
| Colorectal Cancer, Hereditary Nonpolyposis, Type 6 |
|
|
| Ovarian Cancer |
|
|
| Aortic Aneurysm, Familial Abdominal, 1 |
|
|
| Marfan Syndrome |
|
|
| Endometrial Cancer |
|
|
| Intracranial Hypotension |
|
|
| Aortic Valve Disease 1 |
|
|
| Loeys-Dietz Syndrome 5 |
|
|
| Inguinal Hernia |
|
|
| Familial Colorectal Cancer |
|
|
| Adenoma |
|
|
| Gallbladder Cancer |
|
|
| Collagen Disease |
|
|
| Pfeiffer Syndrome |
|
|
| Gastrointestinal Carcinoma |
|
|
| Laryngeal Squamous Cell Carcinoma |
|
|
| Tricuspid Valve Prolapse |
|
|
| Peutz-Jeghers Syndrome |
|
|
| Sertoli Cell Tumor |
|
|
| Cataract |
|
|
| Familial Adenomatous Polyposis |
|
|
| Pancreatic Cancer |
|
|
| Cutis Laxa, Autosomal Dominant 1 |
|
|
| Contractural Arachnodactyly, Congenital |
|
|
| Loeys-Dietz Syndrome 2 |
|
|
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
|
| Cleft Soft Palate |
|
|
| Aortic Aneurysm, Familial Thoracic 1 |
|
|
| Sezary'S Disease |
|
|
| Orofacial Cleft |
|
|
| Adenocarcinoma |
|
|
| Colonic Benign Neoplasm |
|
|
| Biliary Tract Cancer |
|
|
| Interstitial Lung Disease 2 |
|
|
| Arterial Tortuosity Syndrome |
|
|
| Esophageal Cancer |
|
|
| Diffuse Gastric Cancer |
|
|
| Aortic Dissection |
|
|
| Aortic Aneurysm |
|
|
| Loeys-Dietz Syndrome |
|
|
| Aortic Valve Insufficiency |
|
|
| Scoliosis |
|
|
| Esophagus Squamous Cell Carcinoma |
|
|
| Squamous Cell Carcinoma |
|
|
| Aortic Disease |
|
|
| Ewing Sarcoma |
|
|
| Camurati-Engelmann Disease |
|
|
| Lung Cancer Susceptibility 3 |
|
|
| Orthostatic Intolerance |
|
|
| Hereditary Hemorrhagic Telangiectasia |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Autoimmune Cholangitis |
|
|
| Subclavian Artery Aneurysm |
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | TGFBR2 | VGNC | VGNC:35805 |
| Canis familiaris | TGFBR2 | VGNC | VGNC:47312 |
| Mus musculus | TGFBR2 | MGD | MGI:98729 |
| Macaca mulatta | TGFBR2 | VGNC | VGNC:78338 |
| Felis catus | TGFBR2 | VGNC | VGNC:66136 |
| Rattus norvegicus | TGFBR2 | RGD | RGD:69651 |
| Others | TGFBR2 | NCBI |