TWSG1
Twisted Gastrulation BMP Signaling Modulator 1
Gene Information Card
| Symbol | TWSG1 |
|---|---|
| Full Name | twisted gastrulation BMP signaling modulator 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 18p11.22 |
| NCBI Gene ID | 57045 ncbi.nlm.nih.gov/gene/57045 |
| Ensembl ID | ENSG00000134371 |
| UniProt ID | Q9GZX9 |
| OMIM ID | 605049 |
| HGNC ID | 12429 |
| Aliases | TSG, TWSG, bA1009L22.1, dJ1103G7.1 |
Description
TWSG1 encodes a secreted protein that modulates bone morphogenetic protein (BMP) signaling by binding to BMP ligands and their receptors. It plays a critical role in embryonic development, particularly in dorsoventral patterning, neural crest formation, and skeletal morphogenesis. The protein can act as both an agonist and antagonist of BMP signaling depending on the cellular context.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| BMP-related skeletal disorders | Altered BMP signaling due to TWSG1 dysregulation | OMIM |
| Neural tube defects | Impaired dorsoventral patterning from TWSG1 deficiency | NCBI Gene |
| Cancer (various) | Dysregulation of BMP pathway affecting tumor progression | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.2 | Low |
| Heart | 5.1 | Low |
| Liver | 3.4 | Not detected |
| Kidney | 6.7 | Low |
| Lung | 4.9 | Low |
| Testis | 12.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 7.5 | Cervical cancer cell line |
| HEK 293 | 6.8 | Embryonic kidney cell line |
| A549 | 5.2 | Lung cancer cell line |
| MCF7 | 4.1 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | <0.1% | Unknown functional impact |
| c.200C>T | nonsense | <0.1% | Predicted loss of function |
| c.350G>A | missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • BMP binding | • BMP signaling pathway |
| • extracellular region | • negative regulation of BMP signaling pathway |
| • positive regulation of BMP signaling pathway | • dorsoventral pattern formation |
Pathways
• BMP signaling pathway
• TGF-beta signaling pathway
Protein Summary
The TWSG1 protein is a secreted glycoprotein of approximately 25 kDa that contains a twisted gastrulation domain. It binds to BMP ligands (e.g., BMP2, BMP4) and modulates their interaction with receptors, thereby fine-tuning BMP signaling gradients during development. The protein is conserved across vertebrates and is essential for proper embryonic patterning.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TWSG1 Knockout HEK293 Cell Line | EDJ-KQ12173 | Human | 57045 | Details Get a Quote |
| TWSG1 Knockout A-549 Cell Line | EDJ-KQ39638 | Human | 57045 | Details Get a Quote |
| TWSG1 Knockout HCT 116 Cell Line | EDJ-KQ40885 | Human | 57045 | Details Get a Quote |
| TWSG1 Knockout HeLa Cell Line | EDJ-KQ40886 | Human | 57045 | Details Get a Quote |
