Details for: TGFBR2

Gene ID: 7048

Symbol: TGFBR2

Ensembl ID: ENSG00000163513

Description: transforming growth factor beta receptor 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 299.4627
    Cell Significance Index: -46.5800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 179.8194
    Cell Significance Index: -45.6100
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 110.0868
    Cell Significance Index: -45.3500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 100.5275
    Cell Significance Index: -40.8400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 97.7288
    Cell Significance Index: -46.1400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 87.8913
    Cell Significance Index: -45.2100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 43.1006
    Cell Significance Index: -41.1500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 37.7872
    Cell Significance Index: -46.5900
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 26.3183
    Cell Significance Index: -57.6000
  • Cell Name: glomerular capillary endothelial cell (CL1001005)
    Fold Change: 16.8770
    Cell Significance Index: 62.9000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 15.8589
    Cell Significance Index: -48.7100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 15.5439
    Cell Significance Index: -41.6400
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 11.8017
    Cell Significance Index: -46.5700
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 8.1352
    Cell Significance Index: 55.1200
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 4.4144
    Cell Significance Index: 63.4900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 4.0967
    Cell Significance Index: 46.5400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 3.3975
    Cell Significance Index: 176.9700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 3.3207
    Cell Significance Index: 64.8100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 2.6839
    Cell Significance Index: 532.6300
  • Cell Name: endothelial cell of periportal hepatic sinusoid (CL0019021)
    Fold Change: 2.1817
    Cell Significance Index: 7.5900
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.0347
    Cell Significance Index: 156.1400
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 1.6776
    Cell Significance Index: 35.8600
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 1.5540
    Cell Significance Index: 16.1000
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 1.4745
    Cell Significance Index: 24.8400
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.2576
    Cell Significance Index: 18.0600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 1.1421
    Cell Significance Index: 725.3800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.1362
    Cell Significance Index: 204.8300
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1215
    Cell Significance Index: 1012.5900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.0967
    Cell Significance Index: 134.8500
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.9498
    Cell Significance Index: 16.7900
  • Cell Name: hepatic pit cell (CL2000054)
    Fold Change: 0.7895
    Cell Significance Index: 2.1200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7101
    Cell Significance Index: 254.7100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.6546
    Cell Significance Index: 33.0800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: 0.4899
    Cell Significance Index: 2.9600
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.4848
    Cell Significance Index: 6.1100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.4814
    Cell Significance Index: 13.8000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4599
    Cell Significance Index: 29.6700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4171
    Cell Significance Index: 227.7900
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3231
    Cell Significance Index: 22.3500
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3183
    Cell Significance Index: 14.9600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3142
    Cell Significance Index: 591.5700
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3110
    Cell Significance Index: 59.1800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2753
    Cell Significance Index: 37.8000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1166
    Cell Significance Index: 11.5300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0602
    Cell Significance Index: 26.6100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0447
    Cell Significance Index: 20.2900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0318
    Cell Significance Index: 24.0900
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0229
    Cell Significance Index: 2.7000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0093
    Cell Significance Index: -0.4200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0120
    Cell Significance Index: -0.2600
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0186
    Cell Significance Index: -13.6500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0198
    Cell Significance Index: -2.0300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0230
    Cell Significance Index: -17.0300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0230
    Cell Significance Index: -14.3800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0240
    Cell Significance Index: -2.7400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0244
    Cell Significance Index: -44.9400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0312
    Cell Significance Index: -48.0400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0381
    Cell Significance Index: -51.8500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0414
    Cell Significance Index: -23.3700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0466
    Cell Significance Index: -7.9500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0543
    Cell Significance Index: -37.5700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0592
    Cell Significance Index: -2.0800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0627
    Cell Significance Index: -8.0400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0709
    Cell Significance Index: -20.4100
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0858
    Cell Significance Index: -0.7000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1183
    Cell Significance Index: -17.2000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1254
    Cell Significance Index: -8.8700
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1389
    Cell Significance Index: -3.7100
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1576
    Cell Significance Index: -33.2000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1813
    Cell Significance Index: -23.4200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.2020
    Cell Significance Index: -5.8200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2021
    Cell Significance Index: -23.1500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2031
    Cell Significance Index: -9.4700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2059
    Cell Significance Index: -3.0400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.2096
    Cell Significance Index: -42.0400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2581
    Cell Significance Index: -30.0800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2818
    Cell Significance Index: -4.1600
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: -0.3002
    Cell Significance Index: -1.8800
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3155
    Cell Significance Index: -6.7200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3178
    Cell Significance Index: -16.5100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.3208
    Cell Significance Index: -5.9300
  • Cell Name: endothelial cell of pericentral hepatic sinusoid (CL0019022)
    Fold Change: -0.3667
    Cell Significance Index: -2.9000
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3952
    Cell Significance Index: -8.2000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3955
    Cell Significance Index: -41.1800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.4496
    Cell Significance Index: -11.2400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.5182
    Cell Significance Index: -38.6200
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.5235
    Cell Significance Index: -41.4600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.5488
    Cell Significance Index: -9.1900
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5767
    Cell Significance Index: -18.4700
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.6038
    Cell Significance Index: -5.5600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.6231
    Cell Significance Index: -16.7000
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.6517
    Cell Significance Index: -17.7400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.7080
    Cell Significance Index: -43.5200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.7140
    Cell Significance Index: -48.0100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.7525
    Cell Significance Index: -22.1000
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7563
    Cell Significance Index: -46.3700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.8034
    Cell Significance Index: -45.0800
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.8638
    Cell Significance Index: -23.1100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.9049
    Cell Significance Index: -47.5100
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.9471
    Cell Significance Index: -12.1500

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** TGFBR2 is a type II receptor for TGF-β, which is a dimeric cytokine that signals through the Smad protein family to regulate gene expression. TGFBR2 is characterized by its ability to bind to TGF-β and activate the TGF-β signaling pathway. It is also a member of the receptor tyrosine kinase family and has intrinsic kinase activity. TGFBR2 is highly phosphorylated and can interact with various signaling molecules to regulate cellular processes. **Pathways and Functions** The TGF-β signaling pathway, in which TGFBR2 plays a crucial role, is involved in regulating various cellular processes, including: 1. **Cell growth and differentiation**: TGF-β signaling regulates cell growth, differentiation, and survival by modulating the expression of target genes. 2. **Apoptosis**: TGF-β signaling can induce apoptosis in certain cell types, while also promoting cell survival in others. 3. **Homeostasis**: TGF-β signaling plays a crucial role in maintaining tissue homeostasis by regulating the balance between cell growth and differentiation. 4. **Immune response**: TGF-β signaling regulates the immune response by modulating the expression of immune-related genes. **Clinical Significance** Dysregulation of the TGF-β signaling pathway, including TGFBR2, has been implicated in various diseases, including: 1. **Cancer**: TGFBR2 is often mutated or downregulated in cancer, leading to uncontrolled cell growth and tumor formation. 2. **Cardiovascular disease**: TGF-β signaling plays a crucial role in maintaining cardiovascular homeostasis, and dysregulation of this pathway has been implicated in cardiovascular disease. 3. **Autoimmune diseases**: TGF-β signaling regulates the immune response, and dysregulation of this pathway has been implicated in autoimmune diseases, such as rheumatoid arthritis and lupus. 4. **Fibrosis**: TGF-β signaling plays a crucial role in regulating fibrosis, and dysregulation of this pathway has been implicated in various fibrotic diseases, including liver and kidney disease. **Significantly Expressed Cells** TGFBR2 is expressed in various cell types, including: 1. **Skeletal muscle fibroblast**: TGFBR2 is highly expressed in skeletal muscle fibroblasts, where it plays a crucial role in regulating muscle growth and differentiation. 2. **Cardiac neuron**: TGFBR2 is expressed in cardiac neurons, where it plays a role in regulating cardiac development and function. 3. **Endothelial cell**: TGFBR2 is expressed in endothelial cells, where it plays a crucial role in regulating angiogenesis and vascular development. In conclusion, TGFBR2 is a critical component of the TGF-β signaling pathway, which plays a crucial role in regulating various cellular processes, including cell growth, differentiation, apoptosis, and homeostasis. Dysregulation of this pathway has been implicated in various diseases, including cancer, cardiovascular disease, autoimmune diseases, and fibrosis. Further research is needed to fully understand the mechanisms of TGFBR2 and its role in human disease.

Genular Protein ID: 3298094650

Symbol: TGFR2_HUMAN

Name: TGF-beta receptor type-2

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 1310899

Title: Expression cloning of the TGF-beta type II receptor, a functional transmembrane serine/threonine kinase.

PubMed ID: 1310899

DOI: 10.1016/0092-8674(92)90152-3

PubMed ID: 1525823

Title:

PubMed ID: 1525823

PubMed ID: 7959019

Title: A cDNA encoding the human transforming growth factor beta receptor suppresses the growth defect of a yeast mutant.

PubMed ID: 7959019

DOI: 10.1016/0378-1119(94)90178-3

PubMed ID: 8812462

Title: The genomic structure of the gene encoding the human transforming growth factor beta type II receptor (TGF-beta RII).

PubMed ID: 8812462

DOI: 10.1006/geno.1996.0471

PubMed ID: 8840968

Title: Genomic structure of the transforming growth factor beta type II receptor gene and its mutations in hereditary nonpolyposis colorectal cancers.

PubMed ID: 8840968

PubMed ID: 8973329

Title: Cloning of a cDNA encoding the human transforming growth factor-beta type II receptor: heterogeneity of the mRNA.

PubMed ID: 8973329

DOI: 10.1016/s0378-1119(96)00501-x

PubMed ID: 34568316

Title: A Novel Splice Variant of Human TGF-beta Type II Receptor Encodes a Soluble Protein and Its Fc-Tagged Version Prevents Liver Fibrosis in vivo.

PubMed ID: 34568316

DOI: 10.3389/fcell.2021.690397

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15340161

Title: Signal peptide prediction based on analysis of experimentally verified cleavage sites.

PubMed ID: 15340161

DOI: 10.1110/ps.04682504

PubMed ID: 7774578

Title: GS domain mutations that constitutively activate T beta R-I, the downstream signaling component in the TGF-beta receptor complex.

PubMed ID: 7774578

DOI: 10.1002/j.1460-2075.1995.tb07214.x

PubMed ID: 8555189

Title: Interaction of transforming growth factor beta receptors with apolipoprotein J/clusterin.

PubMed ID: 8555189

DOI: 10.1021/bi951880a

PubMed ID: 8635485

Title: A human transforming growth factor-beta type II receptor that contains an insertion in the extracellular domain.

PubMed ID: 8635485

DOI: 10.1006/excr.1996.0066

PubMed ID: 9865696

Title: SARA, a FYVE domain protein that recruits Smad2 to the TGFbeta receptor.

PubMed ID: 9865696

DOI: 10.1016/s0092-8674(00)81701-8

PubMed ID: 9472030

Title: Oligomeric structure of type I and type II transforming growth factor beta receptors: homodimers form in the ER and persist at the plasma membrane.

PubMed ID: 9472030

DOI: 10.1083/jcb.140.4.767

PubMed ID: 11483955

Title: TGF-beta-induced apoptosis is mediated by the adapter protein Daxx that facilitates JNK activation.

PubMed ID: 11483955

DOI: 10.1038/35087019

PubMed ID: 12941698

Title: TLP, a novel modulator of TGF-beta signaling, has opposite effects on Smad2- and Smad3-dependent signaling.

PubMed ID: 12941698

DOI: 10.1093/emboj/cdg428

PubMed ID: 16982625

Title: Identification of Tctex2beta, a novel dynein light chain family member that interacts with different transforming growth factor-beta receptors.

PubMed ID: 16982625

DOI: 10.1074/jbc.m608614200

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 19369195

Title: Large-scale proteomics analysis of the human kinome.

PubMed ID: 19369195

DOI: 10.1074/mcp.m800588-mcp200

PubMed ID: 21791611

Title: TSC-22 promotes transforming growth factor beta-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity.

PubMed ID: 21791611

DOI: 10.1128/mcb.05448-11

PubMed ID: 21441952

Title: SCUBE3 is an endogenous TGF-beta receptor ligand and regulates the epithelial-mesenchymal transition in lung cancer.

PubMed ID: 21441952

DOI: 10.1038/onc.2011.85

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25893292

Title: Syntenin regulates TGF-beta1-induced Smad activation and the epithelial-to-mesenchymal transition by inhibiting caveolin-mediated TGF-beta type I receptor internalization.

PubMed ID: 25893292

DOI: 10.1038/onc.2015.100

PubMed ID: 11850637

Title: Crystal structure of the human TbetaR2 ectodomain--TGF-beta3 complex.

PubMed ID: 11850637

DOI: 10.1038/nsb766

PubMed ID: 12121646

Title: The 1.1 A crystal structure of human TGF-beta type II receptor ligand binding domain.

PubMed ID: 12121646

DOI: 10.1016/s0969-2126(02)00780-3

PubMed ID: 12939140

Title: Solution structure and backbone dynamics of the TGFbeta type II receptor extracellular domain.

PubMed ID: 12939140

DOI: 10.1021/bi034366a

PubMed ID: 18243111

Title: Cooperative assembly of TGF-beta superfamily signaling complexes is mediated by two disparate mechanisms and distinct modes of receptor binding.

PubMed ID: 18243111

DOI: 10.1016/j.molcel.2007.11.039

PubMed ID: 20207738

Title: Ternary complex of transforming growth factor-beta1 reveals isoform-specific ligand recognition and receptor recruitment in the superfamily.

PubMed ID: 20207738

DOI: 10.1074/jbc.m109.079921

PubMed ID: 9590282

Title: HNPCC associated with germline mutation in the TGF-beta type II receptor gene.

PubMed ID: 9590282

DOI: 10.1038/ng0598-17

PubMed ID: 10789724

Title: A dominant negative mutation of transforming growth factor-beta receptor type II gene in microsatellite stable oesophageal carcinoma.

PubMed ID: 10789724

DOI: 10.1054/bjoc.1999.1178

PubMed ID: 11212236

Title: Inhibiting mutations in the transforming growth factor beta type 2 receptor in recurrent human breast cancer.

PubMed ID: 11212236

PubMed ID: 12202987

Title: A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-beta1 (TGF-beta1) and its signaling pathway.

PubMed ID: 12202987

DOI: 10.1007/s100380200069

PubMed ID: 15235604

Title: Heterozygous TGFBR2 mutations in Marfan syndrome.

PubMed ID: 15235604

DOI: 10.1038/ng1392

PubMed ID: 16027248

Title: Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections.

PubMed ID: 16027248

DOI: 10.1161/circulationaha.105.537340

PubMed ID: 15731757

Title: A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2.

PubMed ID: 15731757

DOI: 10.1038/ng1511

PubMed ID: 16251899

Title: Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects.

PubMed ID: 16251899

DOI: 10.1038/sj.ejhg.5201502

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

PubMed ID: 17344846

Title: Patterns of somatic mutation in human cancer genomes.

PubMed ID: 17344846

DOI: 10.1038/nature05610

PubMed ID: 19533785

Title: Identification of novel FBN1 and TGFBR2 mutations in 65 probands with Marfan syndrome or Marfan-like phenotypes.

PubMed ID: 19533785

DOI: 10.1002/ajmg.a.32918

PubMed ID: 19883511

Title: Loeys-Dietz syndrome type I and type II: clinical findings and novel mutations in two Italian patients.

PubMed ID: 19883511

DOI: 10.1186/1750-1172-4-24

PubMed ID: 20101701

Title: Progressive aortic root and pulmonary artery aneurysms in a neonate with Loeys-Dietz syndrome type 1B.

PubMed ID: 20101701

DOI: 10.1002/ajmg.a.33263

PubMed ID: 20358619

Title: Germline TGF-beta receptor mutations and skeletal fragility: a report on two patients with Loeys-Dietz syndrome.

PubMed ID: 20358619

DOI: 10.1002/ajmg.a.33356

PubMed ID: 22113417

Title: Clinical features and genetic analysis of Korean patients with Loeys-Dietz syndrome.

PubMed ID: 22113417

DOI: 10.1038/jhg.2011.130

PubMed ID: 21949523

Title: A sporadic case of Loeys-Dietz syndrome type I with two novel mutations of the TGFBR2 gene.

PubMed ID: 21949523

DOI: 10.3345/kjp.2011.54.6.272

Sequence Information:

  • Length: 567
  • Mass: 64568
  • Checksum: C541DA751FFBDBEB
  • Sequence:
  • MGRGLLRGLW PLHIVLWTRI ASTIPPHVQK SVNNDMIVTD NNGAVKFPQL CKFCDVRFST 
    CDNQKSCMSN CSITSICEKP QEVCVAVWRK NDENITLETV CHDPKLPYHD FILEDAASPK 
    CIMKEKKKPG ETFFMCSCSS DECNDNIIFS EEYNTSNPDL LLVIFQVTGI SLLPPLGVAI 
    SVIIIFYCYR VNRQQKLSST WETGKTRKLM EFSEHCAIIL EDDRSDISST CANNINHNTE 
    LLPIELDTLV GKGRFAEVYK AKLKQNTSEQ FETVAVKIFP YEEYASWKTE KDIFSDINLK 
    HENILQFLTA EERKTELGKQ YWLITAFHAK GNLQEYLTRH VISWEDLRKL GSSLARGIAH 
    LHSDHTPCGR PKMPIVHRDL KSSNILVKND LTCCLCDFGL SLRLDPTLSV DDLANSGQVG 
    TARYMAPEVL ESRMNLENVE SFKQTDVYSM ALVLWEMTSR CNAVGEVKDY EPPFGSKVRE 
    HPCVESMKDN VLRDRGRPEI PSFWLNHQGI QMVCETLTEC WDHDPEARLT AQCVAERFSE 
    LEHLDRLSGR SCSEEKIPED GSLNTTK

Genular Protein ID: 1707436013

Symbol: D2JYI1_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 592
  • Mass: 67457
  • Checksum: 8ADCBA70F95E1CBB
  • Sequence:
  • MGRGLLRGLW PLHIVLWTRI ASTIPPHVQK SDVEMEAQKD EIICPSCNRT AHPLRHINND 
    MIVTDNNGAV KFPQLCKFCD VRFSTCDNQK SCMSNCSITS ICEKPQEVCV AVWRKNDENI 
    TLETVCHDPK LPYHDFILED AASPKCIMKE KKKPGETFFM CSCSSDECND NIIFSEEYNT 
    SNPDLLLVIF QVTGISLLPP LGVAISVIII FYCYRVNRQQ KLSSTWETGK TRKLMEFSEH 
    CAIILEDDRS DISSTCANNI NHNTELLPIE LDTLVGKGRF AEVYKAKLKQ NTSEQFETVA 
    VKIFPYEEYA SWKTEKDIFS DINLKHENIL QFLTAEERKT ELGKQYWLIT AFHAKGNLQE 
    YLTRHVISWE DLRKLGSSLA RGIAHLHSDH TPCGRPKMPI VHRDLKSSNI LVKNDLTCCL 
    CDFGLSLRLD PTLSVDDLAN SGQVGTARYM APEVLESRMN LENVESFKQT DVYSMALVLW 
    EMTSRCNAVG EVKDYEPPFG SKVREHPCVE SMKDNVLRDR GRPEIPSFWL NHQGIQMVCE 
    TLTECWDHDP EARLTAQCVA ERFSELEHLD RLSGRSCSEE KIPEDGSLNT TK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.