TGFBRAP1
Transforming Growth Factor Beta Receptor Associated Protein 1
Gene Information Card
| Symbol | TGFBRAP1 |
|---|---|
| Full Name | Transforming Growth Factor Beta Receptor Associated Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q12.1 |
| NCBI Gene ID | 93974 ncbi.nlm.nih.gov/gene/93974 |
| Ensembl ID | ENSG00000115956 |
| UniProt ID | Q8WUH2 |
| OMIM ID | 608614 |
| HGNC ID | 16877 |
| Aliases | TRAP-1, TRAP1, FLJ10385 |
Description
TGFBRAP1 encodes a protein that associates with the type I and type II TGF-beta receptors. It is involved in TGF-beta signaling, which regulates cell proliferation, differentiation, and apoptosis. The protein may also play a role in intracellular trafficking and receptor complex assembly.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in OMIM or ClinVar | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.2 | Medium |
| Brain | 6.1 | Low |
| Liver | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | Moderate expression |
| HeLa | 8.5 | Moderate expression |
| K562 | 6.7 | Low expression |
| HepG2 | 5.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1045C>T (p.Arg349Trp) | Missense | <0.01% (gnomAD) | Unknown functional effect |
| c.1573G>A (p.Val525Ile) | Missense | <0.01% (gnomAD) | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
• Signaling by TGF-beta family members (Reactome: R-HSA-170834)
Protein Summary
TGFBRAP1 is a 963-amino acid protein that contains a serine/threonine kinase domain and a C-terminal domain. It interacts with TGF-beta receptors and may modulate signaling. Expression is highest in testis and lymphoid tissues. No strong disease associations have been established.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGFBRAP1 Knockout HEK293 Cell Line | EDJ-KQ3534 | Human | 9392 | Details Get a Quote |
| TGFBRAP1 Knockout A-549 Cell Line | EDJ-KQ23996 | Human | 9392 | Details Get a Quote |
| TGFBRAP1 Knockout HCT 116 Cell Line | EDJ-KQ25375 | Human | 9392 | Details Get a Quote |
| TGFBRAP1 Knockout HeLa Cell Line | EDJ-KQ25376 | Human | 9392 | Details Get a Quote |
