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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TWSG1
twisted gastrulation BMP signaling modulator 1
Chromosome 18 · 18p11.22
NCBI Gene: 57045Ensembl: ENSG00000128791.13HGNC: HGNC:12429UniProt: Q9GZX9
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of SMAD protein signal transductionnegative regulation of CD4-positive, alpha-beta T cell activationnegative regulation of CD4-positive, alpha-beta T cell proliferationAbruptio PlacentaeTietze syndromeglomerulonephritiskeratoconjunctivitis
✦AI Summary

TWSG1 (Twisted Gastrulation BMP Signaling Modulator 1) is a secreted glycoprotein that functions as a dual regulator of BMP signaling during development and disease. Structurally, TWSG1 contains two disulfide-rich domains that enable its complex regulatory mechanism 1. The protein exhibits both BMP inhibitory and enhancing activities: it directly inhibits BMP signaling by binding to BMP ligands and occupying their type 1 receptor binding sites, while simultaneously enhancing BMP activity through interactions with Chordin, a BMP antagonist 12. TWSG1 plays critical roles in embryonic dorsoventral axis formation and iron homeostasis regulation, where it suppresses hepcidin expression in hepatocytes and contributes to iron dysregulation in thalassemia syndromes 3. In cancer contexts, TWSG1 demonstrates tissue-specific functions, acting as a tumor suppressor in gastric cancer by inhibiting cell proliferation and cycle progression 4, while promoting malignant progression in glioblastoma through Akt pathway activation 56. The protein's expression levels correlate with patient outcomes across multiple cancer types, suggesting potential utility as both a biomarker and therapeutic target 7.

Sources cited
1
TWSG1 structure contains two disulfide-rich domains and inhibits BMP signaling by occupying BMP receptor binding sites
PMID: 38862520
2
TWSG1 acts as both BMP agonist and antagonist through dual mechanisms involving BMP and Chordin interactions
PMID: 36361543
3
TWSG1 suppresses hepcidin expression and contributes to iron dysregulation in thalassemia
PMID: 19414861
4
TWSG1 acts as tumor suppressor in gastric cancer by inhibiting cell proliferation and cycle progression
PMID: 29756996
5
TWSG1 promotes glioblastoma proliferation through Akt pathway activation
PMID: 33534374
6
TWSG1 is highly expressed in glioma and affects tumor growth and macrophage infiltration
PMID: 38950414
7
TWSG1 expression levels correlate with patient outcomes and has potential as biomarker and therapeutic target
PMID: 40302064
Disease Associationsⓘ20
Abruptio PlacentaeOpen Targets
0.29Weak
Tietze syndromeOpen Targets
0.27Weak
glomerulonephritisOpen Targets
0.11Weak
keratoconjunctivitisOpen Targets
0.11Weak
cancerOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.09Suggestive
triple-negative breast cancerOpen Targets
0.08Suggestive
papillary thyroid carcinomaOpen Targets
0.08Suggestive
response to antihypertensive drugOpen Targets
0.05Suggestive
hepatocellular carcinomaOpen Targets
0.05Suggestive
malignant pleural mesotheliomaOpen Targets
0.05Suggestive
otodental syndromeOpen Targets
0.05Suggestive
Schimke immuno-osseous dysplasiaOpen Targets
0.04Suggestive
lung cancerOpen Targets
0.04Suggestive
non-alcoholic fatty liver diseaseOpen Targets
0.04Suggestive
asthmaOpen Targets
0.04Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
Gaucher disease type 1Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BMP4Protein interaction97%BMP5Protein interaction97%CHRDProtein interaction97%CHRDL2Protein interaction82%BMPERProtein interaction80%VWCEProtein interaction72%
Tissue Expression6 tissues
Heart
100%
Ovary
82%
Bone Marrow
68%
Brain
59%
Lung
58%
Liver
19%
Gene Interaction Network
Click a node to explore
TWSG1BMP4BMP5CHRDCHRDL2BMPERVWCE
PROTEIN STRUCTURE
Preparing viewer…
PDB8BWL · 1.96 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.62 [0.41–0.96]
RankingsWhere TWSG1 stands among ~20K protein-coding genes
  • #10,887of 20,598
    Most Researched36
  • #9,104of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedTWSG1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Molecular mechanism of BMP signal control by Twisted gastrulation.
PMID: 38862520
Nat Commun · 2024
1.00
2
Multifaceted Functions of TWSG1: From Embryogenesis to Cancer Development.
PMID: 36361543
Int J Mol Sci · 2022
0.90
3
Identification of TWSG1 as a second novel erythroid regulator of hepcidin expression in murine and human cells.
PMID: 19414861
Blood · 2009
0.80
4
The Role of Twisted Gastrulation 1 (TWSG1) Gene in TGF-β Signaling Linked to Cancer: A Comprehensive Review.
PMID: 40302064
Asian Pac J Cancer Prev · 2025
0.70
5
Minimal evidence for a direct involvement of twisted gastrulation homolog 1 (TWSG1) gene in human holoprosencephaly.
PMID: 21227728
Mol Genet Metab · 2011
0.60