TBRG4
Transforming Growth Factor Beta Regulator 4
Gene Information Card
| Symbol | TBRG4 |
|---|---|
| Full Name | Transforming Growth Factor Beta Regulator 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p13 |
| NCBI Gene ID | 9238 ncbi.nlm.nih.gov/gene/9238 |
| Ensembl ID | ENSG00000106511 |
| UniProt ID | Q969Z0 |
| OMIM ID | 611796 |
| HGNC ID | 11695 |
| Aliases | CPR2, FLJ10305, PP125, TBRG4 |
Description
TBRG4 (Transforming Growth Factor Beta Regulator 4) is a protein-coding gene located on chromosome 7p13. It encodes a protein involved in TGF-beta signaling regulation, cell growth, and differentiation. The gene is expressed in various tissues and has been implicated in cancer and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered TGF-beta signaling; potential tumor suppressor or oncogenic role depending on context | COSMIC; NCBI Gene |
| Developmental disorders | Disruption of TGF-beta pathway may affect embryogenesis | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.0 | Moderate expression |
| HeLa | 9.5 | Moderate expression |
| K562 | 7.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | missense | <0.1% | Unknown functional impact |
| c.456G>A | missense | <0.1% | Reported in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; potential loss of TGF-beta regulation
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (GO:0005515) | • GO:0007179 (GO:0007179) |
| • GO:0045944 (GO:0045944) |
Pathways
• TGF-beta signaling pathway (KEGG: hsa04350)
Protein Summary
The TBRG4 protein (UniProt Q969Z0) is a 125 kDa protein that interacts with TGF-beta receptors and modulates downstream signaling. It contains a conserved domain involved in protein-protein interactions and may regulate cell cycle and apoptosis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBRG4 Knockout HEK293 Cell Line | EDJ-KQ6518 | Human | 9238 | Details Get a Quote |
| TBRG4 Knockout A-549 Cell Line | EDJ-KQ30665 | Human | 9238 | Details Get a Quote |
| TBRG4 Knockout HCT 116 Cell Line | EDJ-KQ30666 | Human | 9238 | Details Get a Quote |
| TBRG4 Knockout HeLa Cell Line | EDJ-KQ30667 | Human | 9238 | Details Get a Quote |
