TMBIM6: Transmembrane BAX Inhibitor Motif Containing 6
A multifunctional endoplasmic reticulum protein involved in apoptosis, calcium homeostasis, and cellular stress responses.
Gene Information Card
| Symbol | TMBIM6 |
|---|---|
| Full Name | Transmembrane BAX Inhibitor Motif Containing 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.12 |
| NCBI Gene ID | 7009 ncbi.nlm.nih.gov/gene/7009 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | P55061 |
| OMIM ID | 605200 |
| HGNC ID | 11867 |
| Aliases | BI-1, TEGT, BAX inhibitor 1 |
Description
TMBIM6 (Transmembrane BAX Inhibitor Motif Containing 6) encodes a multi-pass transmembrane protein primarily localized to the endoplasmic reticulum. It functions as a calcium channel regulator, inhibiting BAX-mediated apoptosis and modulating ER stress responses. The protein is involved in maintaining calcium homeostasis, protecting cells from oxidative stress, and regulating autophagy. TMBIM6 is widely expressed and has been implicated in cancer, neurodegenerative diseases, and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression inhibits apoptosis, promoting tumor survival and chemoresistance. | COSMIC, ClinVar |
| Alzheimer's disease | Dysregulation of ER calcium homeostasis and increased ER stress. | UniProt, NCBI Gene |
| Diabetes | Altered insulin secretion and beta-cell apoptosis due to ER stress modulation. | NCBI Gene |
| Ischemia/reperfusion injury | Protective role by reducing ER stress and calcium overload. | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 15.2 | Medium |
| Heart | 8.9 | Low |
| Kidney | 10.1 | Medium |
| Lung | 11.3 | Medium |
| Pancreas | 9.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 14.5 | High expression |
| HeLa | 13.2 | High expression |
| HepG2 | 11.8 | Medium expression |
| SH-SY5Y | 10.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287A>G (p.Asn96Ser) | Missense | <0.01% | Unknown functional impact |
| c.512C>T (p.Pro171Leu) | Missense | <0.01% | Potential loss of function |
| c.784G>A (p.Gly262Arg) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may impair calcium channel activity or anti-apoptotic function.
Gain of Function (GOF)
Not well characterized; overexpression in tumors suggests potential gain-of-function in cancer.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endoplasmic reticulum stress response
• Apoptosis regulation by Bcl-2 family
• Calcium signaling pathway
Protein Summary
The TMBIM6 protein (also known as BI-1) is a 237-amino acid transmembrane protein with six membrane-spanning domains. It resides in the ER membrane and acts as a calcium leak channel, reducing ER calcium levels and protecting cells from ER stress-induced apoptosis. It interacts with BAX and other Bcl-2 family members to inhibit mitochondrial outer membrane permeabilization. The protein is highly conserved and expressed in most tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMBIM6 Knockout HEK293 Cell Line | EDJ-KQ5915 | Human | 7009 | Details Get a Quote |
| TMBIM6 Knockout HeLa Cell Line | EDJ-KQ28169 | Human | 7009 | Details Get a Quote |
| TMBIM6 Knockout A-549 Cell Line | EDJ-KQ29442 | Human | 7009 | Details Get a Quote |
| TMBIM6 Knockout HCT 116 Cell Line | EDJ-KQ29443 | Human | 7009 | Details Get a Quote |
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