BAMBI Gene: BMP and Activin Membrane-Bound Inhibitor
A pseudoreceptor regulating TGF-β signaling in development and cancer
Gene Information Card
| Symbol | BAMBI |
|---|---|
| Full Name | BMP and activin membrane-bound inhibitor |
| Gene Type | Protein coding |
| Chromosomal Location | 10p12.1 |
| NCBI Gene ID | 25805 ncbi.nlm.nih.gov/gene/25805 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q13145 |
| OMIM ID | 604444 |
| HGNC ID | 945 |
| Aliases | NMA |
Description
BAMBI (BMP and activin membrane-bound inhibitor) encodes a transmembrane glycoprotein that functions as a pseudoreceptor for the TGF-β superfamily. It shares homology with type I receptors but lacks an intracellular kinase domain, thereby inhibiting BMP, activin, and TGF-β signaling by preventing receptor complex formation. BAMBI is involved in embryonic development, immune regulation, and is frequently dysregulated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | BAMBI overexpression promotes Wnt/β-catenin signaling and EMT | PMID: 19029910 |
| Hepatocellular carcinoma | BAMBI upregulation correlates with poor prognosis and TGF-β resistance | PMID: 19244117 |
| Gastric cancer | BAMBI silencing via promoter methylation reduces invasion | PMID: 21573172 |
| Breast cancer | BAMBI expression associated with metastasis and stemness | PMID: 24880631 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 8.2 | Medium |
| Liver | 5.1 | Low |
| Kidney | 4.3 | Low |
| Lung | 3.8 | Low |
| Colon | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.5 | Embryonic kidney; high BAMBI expression |
| HepG2 | 7.8 | Hepatocellular carcinoma; moderate expression |
| MCF7 | 4.2 | Breast cancer; low expression |
| A549 | 3.1 | Lung adenocarcinoma; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | p.Met1Val; potential start loss |
| c.214C>T | Nonsense | <0.01% | p.Arg72*; premature truncation |
| c.487G>A | Missense | <0.01% | p.Gly163Ser; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg72*) likely cause loss of function by truncating the protein.
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 BMP (Reactome: R-HSA-201451)
• Signaling by TGF-beta family members (Reactome: R-HSA-9006936)
Protein Summary
BAMBI is a 260-amino-acid transmembrane protein with an extracellular domain homologous to TGF-β type I receptors but lacking the intracellular serine/threonine kinase domain. It acts as a decoy receptor, binding to BMP and activin receptors and preventing downstream SMAD phosphorylation. BAMBI is widely expressed during embryogenesis and in adult tissues, with highest levels in placenta. Its expression is regulated by Wnt/β-catenin signaling, and dysregulation contributes to tumor progression and metastasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BAMBI Knockout HEK293 Cell Line | EDJ-KQ366 | Human | 25805 | Details Get a Quote |
| BAMBI Knockout A-549 Cell Line | EDJ-KQ17979 | Human | 25805 | Details Get a Quote |
| BAMBI Knockout HCT 116 Cell Line | EDJ-KQ18556 | Human | 25805 | Details Get a Quote |
| BAMBI Knockout HeLa Cell Line | EDJ-KQ18557 | Human | 25805 | Details Get a Quote |
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