 Gene summary |
| Gene information | Gene symbol | TGFBR2 |
Gene ID | 7048 | | Gene name | transforming growth factor beta receptor 2 |
| Synonyms | AAT3|FAA3|LDS1B|LDS2|LDS2B|MFS2|RIIC|TAAD2|TBR-ii|TBRII|TGFR-2|TGFbeta-RII |
| Cytomap | 3p24.1 |
| Type of gene | protein-coding |
| Description | TGF-beta receptor type-2TGF-beta receptor type IIBTGF-beta type II receptortbetaR-IItransforming growth factor beta receptor IItransforming growth factor beta receptor type IICtransforming growth factor, beta receptor II (70/80kDa)transforming grow |
| Modification date | 20200329 |
| UniProtAcc | A0A0S2Z4H5, A0A0S2Z539, A3QNQ0, D2JYI1, P37173, W8DXL6, W8DXU8, W8DY43, W8DYI2, W8DYQ2, |
| Context | - 32382652(If ineffective levels of transforming growth factors and their receptor account for old age being a risk factor for Alzheimer's disease, then increasing TGFBR2 might be therapeutic)
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| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
ENSG00000163513
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
***cutpoints = c(0, 0.0001, 0.001, 0.01, 1), symbols = c("****", "***", "**", "ns")
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| PG | UP | 5.206166e+02 | 8.870289e-01 | 6.198348e-14 | 5.072526e-11 |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| PG | UP | ENST00000673203.1 | TGFBR2-205:retained_intron:TGFBR2 | 6.104651e+01 | 1.389749e+00 | 1.604310e-06 | 1.271519e-04 |
| PG | UP | ENST00000673250.1 | TGFBR2-206:lncRNA:TGFBR2 | 2.905133e+00 | 1.902492e+00 | 9.922704e-05 | 2.729085e-03 |
| PG | UP | ENST00000672050.1 | TGFBR2-203:lncRNA:TGFBR2 | 5.215264e+00 | 1.142480e+00 | 8.266890e-04 | 1.270023e-02 |
| CB | DOWN | ENST00000672866.1 | TGFBR2-204:lncRNA:TGFBR2 | 1.431192e+00 | -1.675802e+00 | 5.985558e-03 | 2.282450e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_64814 | chr3 | 30606601:30606977:30623199:30623273:30644747:30644915 | 30623199:30623273 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
p-ENSG00000163513_img4.png
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| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
| HCC | exon_skip_64814 | rs9843942 | chr3:30688144 | 3.605941e-04 | 2.613703e-02 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| P37173 | approved|investigational | DB09462 | Glycerin | small molecule | P37173 |
| P37173 | approved|investigational | DB12010 | Fostamatinib | small molecule | P37173 |
Diseases associated with this gene.
(DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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