IGDB.NSCLC Gene View
 
Gene Information        (help)
Gene TGFBR1 Ensembl ENSG00000106799 Chromosome 9 Start 100907233 End 100956295
Description TGF-beta receptor type-1 Precursor (EC 2.7.11.30)(Transforming growth factor-beta receptor type I)(TGF-beta receptor type I)(TGF-beta type I receptor)(TbetaR-I)(TGFR-1)(Serine/threonine-protein kinase receptor R4)(SKR4)(Activin receptor-like kinase 5)(ALK-5) [Source:UniProtKB/Swiss-Prot;Acc:P36897]
GENE RESOURCES :NUCLEOTIDE SEQUENCES :PROTEIN RESOURCES :CLINICAL RESOURCES :REFERENCES :
     HGNC : 11772
     Entrez Gene : 7046
     UCSC : uc004azc.2
     GeneCards : 11772
     RefSeq : NM_001130916
     CCDS : CCDS6738.1
     Uniprot : P36897
     Interpro : P36897
     OMIM : 190181
     GeneTests : TGFBR1
     CGAP : TGFBR1
     PMID : 1319842

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Somatic Mutaions        (help)
Lung cancer Adenocarcinoma Squamous Cell Carcinoma
Unique Mutated Samples % Mutated Total Unique
Samples
Unique Mutated
Samples
% Mutated Total Unique
Samples
Unique Mutated
Samples
% Mutated Total Unique
Samples
2 0.89 225 1 0.51 195 0 0.00 7
Sample datas
Sample Name Histology Subtype DNA Mutation Protein Mutation Mutation Description Zygosity Genomic Co-ordinates NCBI36 Pubmed
16774 AD c.1007_1014delCAAAGAAT p.S336fs*21 Deletion - Frameshift Heterozygous 9:100946868-10094687518948947

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Microarray Gene Expression Fold Change Result        (help)
( red: up-regulation / green : down-regulation when p value < 0.01)
( gray background : these probesets might have mapping problems. ref 1, ref 2)
Chip Type Probeset Adenocarcinoma Squamous Cell Carcinoma
Fold Change p value q value Fold Change p value q value
 HG_U95  1957_s_at  -0.10  6.82e-1  7.63e-1  -0.67  8.94e-2  1.49e-1
 HG_U95  32903_at  -0.18  4.36e-1  5.42e-1  -0.14  6.52e-1  7.37e-1
 HG_U133A  206943_at  -0.00  9.66e-1  9.72e-1  0.89  7.95e-16  1.09e-15
 HG_U133_Plus2  206943_at  0.31  1.38e-1  2.02e-1  -0.13  5.81e-1  6.36e-1
 HG_U133_Plus2  224793_s_at  -0.30  9.23e-4  2.41e-3  -0.14  6.24e-2  8.76e-2
 HG_U133_Plus2  236561_at  -0.70  7.72e-7  3.56e-6  -1.24  1.82e-12  1.07e-11
 Agilent_HS_21.6K  12142  -0.01  8.43e-1  9.12e-1  -0.01  6.27e-1  7.50e-1

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Adjuvant Cisplatin/vinorelbine Treatment vs Observation Result        (help) (Pubmed)
( red: up-regulation / green : down-regulation when p value < 0.01)
( gray background color : the mapping problems of probeset. ref_1, ref_2)
Chip Type Probeset Adenocarcinoma Squamous Cell Carcinoma
Fold Change p value q value Fold Change p value q value
 HG_U133A  206943_at  0.44  3.15e-1  8.80e-1  0.38  4.08e-2  1.00e+0

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Microarray Sample Data        (help)
( The log2 value of tumor samples )
(Average : Average log2 value from Normal Samples.)
        HG_U95 - 1957_s_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U95 - 32903_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133A - 206943_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 206943_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 224793_s_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        HG_U133_Plus2 - 236561_at    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

        Agilent_HS_21.6K - 12142    (back)       Save as a PNG file. Save as a PDF file. Save as a PS file.
Gene expression figure

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Cancer Gene Index        (help)

If 0 entry was found, please remove the search key "lung cancer".
Keyword DiseaseData Statement PubMed Organism
alk5 esophageal cancer Messenger ribonucleic acid (mRNA) expression of TGF-beta1, CTGF, TGF-beta receptor subtype I ALK5 (TbetaR-IALK5), and TGF-beta receptor type II (TbetaR-II) was studied by Northern blot analysis in esophageal cancer and the normal esophagus. 11910473 Human
tgfbr1 bladder cancer The chromosome 9q genes TGFBR1, TSC1, and ZNF189 are rarely mutated in bladder cancer. 11329144 Human
alk5 pancreatic carcinoma We therefore studied the expression of UPA, UPAR, IGF2R, ALK5 (TGFBR1), TGFBR2, TGFBR3, ENG, ALK1, TGFB1, TGFB2, and TGFB3 in a series of 14 pancreatic carcinoma cell lines. 11408925 Human
tgfbr1 pancreatic carcinoma We therefore studied the expression of UPA, UPAR, IGF2R, ALK5 (TGFBR1), TGFBR2, TGFBR3, ENG, ALK1, TGFB1, TGFB2, and TGFB3 in a series of 14 pancreatic carcinoma cell lines. 11408925 Human
tgfbr1 tumour Overall, the results indicate a key role for a tumour suppressor gene(s) encoded in an approximately 3 cM segment on proximal chromosome 4 and provide an experimental basis for the further investigation of the functional role of candidate genes which incl 11433528 Human
tgfbri colon cancer Uncommon TGFBRI allele is not associated with increased susceptibility to colon cancer. 11746979 Human
tgfbri cancer Previous studies have suggested that an allele of the transforming growth factor-beta type I receptor (TGFBRI) gene that codes for six instead of the usual nine alanines in a polyalanine repeat is associated with an increased susceptibility to colon cance 11746979 Human
tgfbri colon cancer We evaluated this TGFBRI polymorphism in a population-based sample of 252 individuals with colon cancer and 362 age- and gender-matched controls from the state of Utah. 11746979 Human
tgfbri colon cancer We conclude that the 6A TGFBRI allele is not associated with an increased susceptibility to colon cancer at the population level, and that the 6A/6A homozygote is not restricted to individuals with some form of cancer. 11746979 Human
tgfbri cancer We conclude that the 6A TGFBRI allele is not associated with an increased susceptibility to colon cancer at the population level, and that the 6A/6A homozygote is not restricted to individuals with some form of cancer. 11746979 Human
alk-5 pancreatic cancers The recently discovered tumor suppressor genes, ALK-5, MKK4, and STK11 (the gene responsible for Peutz-Jeghers syndrome) are all targeted for mutation in a small proportion of sporadic pancreatic cancers. 10436774 Human
alk-5 tumor The recently discovered tumor suppressor genes, ALK-5, MKK4, and STK11 (the gene responsible for Peutz-Jeghers syndrome) are all targeted for mutation in a small proportion of sporadic pancreatic cancers. 10436774 Human
alk-5 human prostate cancer LNCaP is an androgen-responsive human prostate cancer cell line that has a defective gene for ALK-5, the conventional TGF-beta receptor type I. Yet, these cells respond to exogenous TGF-beta 1 under appropriate concentrations of dihydrotestosterone (DHT). 9633523 Human
alk-5 adenocarcinomas Homozygous deletions of ALK-5 were identified in 1 of 97 pancreatic and 1 of 12 biliary adenocarcinomas. 9850059 Human
alk-5 pancreatic cancers Eighty-two % of these pancreatic cancers had genetic inactivation of the DPC4, p15, ALK-5, or TGFBR2 genes. 9850059 Human
tgfbr1 human tumors This information should facilitate and expedite the structural analysis of TGFBR1 in human tumors and possibly other disease states. 9417915 Human
alk5 pituitary adenomas We, therefore, investigated the expression of activin/TGF beta type I receptor messenger ribonucleic acids (mRNAs), designated ALK1 through ALK5 (ALK = activin receptor-like kinase), and type II receptor mRNAs using RT-PCR in 34 human pituitary adenomas o 8636304 Human
alk5 tumors ALK2 and ALK5, specific mediators of activin and TGF beta signals, respectively, were found to be expressed only in tumor and not in normal pituitary cells, and ALK2 expression was found only in tumors of a mammosomatotroph cell lineage. 8636304 Human
alk5 tumor ALK2 and ALK5, specific mediators of activin and TGF beta signals, respectively, were found to be expressed only in tumor and not in normal pituitary cells, and ALK2 expression was found only in tumors of a mammosomatotroph cell lineage. 8636304 Human
alk5 human pancreatic cancer Attenuated ALK5 receptor expression in human pancreatic cancer: correlation with resistance to growth inhibition. 8760600 Human
alk5 pancreatic tumors ALK5 and SKR1 mRNA levels were 6.8- and 9-fold greater in the pancreatic tumors in comparison with the corresponding levels in the normal pancreas. 8760600 Human
alk5 cancer However, in the cancer cells, ALK5 immunoreactivity was faint, whereas T beta RII immunoreactivity was focal and intense. 8760600 Human
alk5 cancer Conversely, in ductal cells adjacent to cancer cells ALK5 immunoreactivity was strong, whereas T beta RII immunoreactivity was weak. 8760600 Human
alk5 tumor Since ALK5 heterodimerization with T beta RII is crucial for TGF-beta-mediated signaling, our findings suggest that low levels of ALK5 in pancreatic cancer cells within a tumor may protect against growth inhibition. 8760600 Human
alk5 pancreatic cancer Since ALK5 heterodimerization with T beta RII is crucial for TGF-beta-mediated signaling, our findings suggest that low levels of ALK5 in pancreatic cancer cells within a tumor may protect against growth inhibition. 8760600 Human
alk5 necrosis CONCLUSION: The marked increase in expression of TGF-betas and their signaling receptors Tbeta-RI (ALK5) and Tbeta-RII suggests a role for TGF-betas in the repair process after the onset of NP in humans and raises the possibility that TGF-betas might be i 9445116 Human
alk5 hcc Northern blot analysis was used in normal liver and HCC to examine the expression of TGF-beta1, -beta2, -beta3 and their receptors: type I ALK5 (TbetaR-I ALK5), type II (TbetaR-II), and type III (TbetaR-III). 10219856 Human
alk5 hcc For TbetaR-I ALK5 and TbetaR-II, the immunostaining in both HCC and normal liver was mild to moderate, with a slightly higher intensity in the normal tissues. 10219856 Human
tgfbr1 bladder tumour This study assessed a series of bladder tumours and bladder tumour cell lines for sequence variation in the Krüppel-like zinc finger gene ZNF189, the tuberous sclerosis complex gene 1 (TSC1), and the TGF beta receptor type I (TGFBR1). 11329144 NA
tgfbr1 bladder tumours This study assessed a series of bladder tumours and bladder tumour cell lines for sequence variation in the Krüppel-like zinc finger gene ZNF189, the tuberous sclerosis complex gene 1 (TSC1), and the TGF beta receptor type I (TGFBR1). 11329144 NA
tgfbr1 carcinomas An intronic variant of the TGFBR1 gene is associated with carcinomas of the kidney and bladder. 15382067 Human
tgfbr1 carcinomas We therefore examined variations in the TGFBR1 gene by PCR, SSCP and RFLP in carcinomas of the urinary system and in tissues from noncancer, age-matched controls. 15382067 Human
tgfbr1 bladder carcinomas In conclusion, the Int7G24A variant in the TGFBR1 gene is significantly more frequent in patients with RCC and TCC than normal age-matched controls, suggesting that it may represent a risk factor for the development of kidney and bladder carcinomas. 15382067 Human
tgfbr1 tumor The TGFBR1*6A (*6A) variant in exon 1 of the TGFBR1 gene has been postulated as a putative tumor susceptibility allele in several studies. 15505640 Human
tgfbr1 cervical cancer Vascular endothelial growth factor (VEGF), basic fibroblastic growth factor (FGF2), transforming growth factor-beta1, 2, 3 (TGFB1, 2, 3), and transforming growth factor-beta receptors (TGFBR1, 2, 3) mRNA expression pattern was evaluated in tissue samples 15797633 Human
tgfbr1 cervical intraepithelial neoplasia (cin) Vascular endothelial growth factor (VEGF), basic fibroblastic growth factor (FGF2), transforming growth factor-beta1, 2, 3 (TGFB1, 2, 3), and transforming growth factor-beta receptors (TGFBR1, 2, 3) mRNA expression pattern was evaluated in tissue samples 15797633 Human
tgfbr1 cancer VEGF, TGFB1, TGFBR1, and FGF2 transcript levels were significantly different in the normal, CIN and cancer specimen groups (P=0.015, 0.001, 0.008, and 0.029, respectively). 15797633 Human
tgfbr1 tumor The genes, up-regulation of which might have suppressive effect on tumor malignant behaviors, were P130 mRNA for 130K protein, TGF-betaIIR alpha, GABBR1, TGFBR1, TNFAIP1, STANIN, E-CADHERIN, CTNNA1 and 2, RFX2, TMPO, etc. 16038265 Human
tgfbr1 cancer Int7G24A variant of the TGFBR1 gene and cancer risk: A meta-analysis of three case-control studies. 15955593 Human
transforming growth factor beta receptor i invasive carcinoma of the breast Five (angiogenic) growth factors and their receptors: platelet-derived growth factor A chain (PDGF-AA) and PDGF receptor alpha (PDGF alpha R), PDGF-BB and PDGF beta receptor, transforming growth factor alpha (TGF alpha) and its receptor epidermal growth f 9582526 Human
transforming growth factor beta receptor i breast tumor Hyaluronan promotes signaling interaction between CD44 and the transforming growth factor beta receptor I in metastatic breast tumor cells. 12145287 Human
transforming growth factor beta receptor i hyperplasia The modulation of the transforming growth factor beta receptor I expression by IFN-gamma may be beneficial to the alleviation of the hyperplasia of scar after trabeculectomy. 15315353 Human
transforming growth factor beta receptor i glioma SD-208, a novel transforming growth factor beta receptor I kinase inhibitor, inhibits growth and invasiveness and enhances immunogenicity of murine and human glioma cells in vitro and in vivo. 15520202 Human
transforming growth factor beta receptor i multiple myeloma Transforming growth factor beta receptor I kinase inhibitor down-regulates cytokine secretion and multiple myeloma cell growth in the bone marrow microenvironment. 15569984 Human
transforming growth factor beta receptor i ovarian cancer Transforming growth factor beta receptor I polyalanine repeat polymorphism does not increase ovarian cancer risk. 15863158 Human

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