TGFBR3L
Transforming Growth Factor Beta Receptor 3 Like
Gene Information Card
| Symbol | TGFBR3L |
|---|---|
| Full Name | Transforming Growth Factor Beta Receptor 3 Like |
| Gene Type | protein-coding |
| Chromosomal Location | 1p31.1 |
| NCBI Gene ID | 100507436 ncbi.nlm.nih.gov/gene/100507436 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | A6NKD9 |
| OMIM ID | 617659 |
| HGNC ID | 44287 |
| Aliases | MGC16121, betaglycan-like |
Description
TGFBR3L encodes a protein similar to transforming growth factor beta receptor 3 (betaglycan), which is involved in TGF-beta signaling. The exact function of TGFBR3L is not fully characterized, but it may modulate TGF-beta ligand binding and receptor complex formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease associations confirmed | Unknown | No curated evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Low |
| Adipose tissue | 2.1 | Low |
| Lung | 1.8 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.3 | Low expression |
| HeLa | 0.1 | Not detected |
| K562 | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not established
Gain of Function (GOF)
Not established
Dominant Negative (DN)
Not established
View complete mutation data：
Protein Summary
The TGFBR3L protein is a putative transmembrane proteoglycan with structural similarity to betaglycan. Its biological role remains unclear, but it may participate in TGF-beta superfamily signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TGFBR3L Knockout HEK293 Cell Line | EDJ-KQ14938 | Human | 100507588 | Details Get a Quote |
| TGFBR3L Knockout HCT 116 Cell Line | EDJ-KQ46622 | Human | 100507588 | Details Get a Quote |
| TGFBR3L Knockout HeLa Cell Line | EDJ-KQ46623 | Human | 100507588 | Details Get a Quote |
| TGFBR3L Knockout A-549 Cell Line | EDJ-KQ69401 | Human | 100507588 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
