Information on TGFBR2
Alt. symbols: MFS2 | TBRII | TBR-ii
Approved name: transforming growth factor beta receptor 2
Alt. names: transforming growth factor, beta receptor II (70/80kDa), transforming growth factor beta receptor II
Location: 3p24.1: 30606478 - 30694249 (+)
Gene type: protein_coding, 10 transcripts.
Scores: LoFtool: 0.060100 | pLI: 0.03559270 | LOEUF: 0.519
Gene Ontology (GO)
- Molecular function: SMAD binding [GO:0046332]; activin receptor activity [GO:0017002]; activin binding [GO:0048185]; transforming growth factor beta receptor activity [GO:0005024]; transforming growth factor beta binding [GO:0050431]; type I transforming growth factor beta receptor binding [GO:0034713]
- Cell component: plasma membrane [GO:0005886]; receptor complex [GO:0043235]
- Biological process: protein phosphorylation [GO:0006468]; cellular response to growth factor stimulus [GO:0071363]; heart development [GO:0007507]; transforming growth factor beta receptor signaling pathway [GO:0007179]
Normal function
Dysfunction and disease
Colorectal cancer, hereditary nonpolyposis, type 6 [MIM:614331] | Loeys-Dietz syndrome 2 [MIM:610168] | Esophageal cancer, somatic [MIM:133239] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
LDS2 |
Loeys-Dietz syndrome, type 2 | AD |
610168 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of TGFBR2
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000295754.10 | 2 | CCDS2648 | Select | protein_coding | 7 | Yes | 4530 | NM_001407127,NM_001407130,NM_001407138,NM_003242 |
| 202 | ENST00000359013.4 | 1 | CCDS33727 | protein_coding | 8 | No | 4605 | NM_001024847,NM_001407126,NM_001407137,NM_001407139 | |
| 207 | ENST00000714389.1 | protein_coding | No | NM_001407129,NM_001407132,NM_001407133,NM_001407134,NM_001407135,NM_001407136 | |||||
| 209 | ENST00000714391.1 | protein_coding | No | NM_001407128 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in TGFBR2
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|