MCUB Gene: Mitochondrial Calcium Uniporter Dominant Negative Beta Subunit
MCUB encodes a regulatory subunit of the mitochondrial calcium uniporter, modulating calcium uptake and cellular metabolism.
Gene Information Card
| Symbol | MCUB |
|---|---|
| Full Name | Mitochondrial Calcium Uniporter Dominant Negative Beta Subunit |
| Gene Type | Protein coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 60468 ncbi.nlm.nih.gov/gene/60468 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | Q9NWR8 |
| OMIM ID | 615534 |
| HGNC ID | 26113 |
| Aliases | CCDC109B, MCU2, FLJ20643 |
Description
MCUB (Mitochondrial Calcium Uniporter Dominant Negative Beta Subunit) encodes a protein that forms a regulatory subunit of the mitochondrial calcium uniporter (MCU) complex. MCUB competes with MCU for pore-forming subunits, reducing mitochondrial calcium uptake. It is widely expressed and plays a role in cellular calcium signaling, metabolism, and stress responses. Alterations in MCUB expression have been linked to various diseases, including cancer and cardiovascular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered MCUB expression modulates mitochondrial calcium uptake, affecting apoptosis resistance and metabolic reprogramming in tumor cells. | Expression studies in various cancers (e.g., breast, lung) show upregulation; functional assays demonstrate impact on cell survival. |
| Cardiovascular disease | MCUB influences mitochondrial calcium handling in cardiomyocytes, potentially affecting ischemia-reperfusion injury and heart failure. | Animal models and human tissue studies indicate altered MCUB levels in cardiac pathology. |
| Neurodegenerative disorders | Mitochondrial calcium dysregulation via MCUB may contribute to neuronal cell death in conditions like Alzheimer's and Parkinson's disease. | Preliminary studies show altered MCUB expression in affected brain regions. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.3 | Medium |
| Brain | 8.7 | Low |
| Liver | 5.2 | Low |
| Skeletal Muscle | 15.6 | Medium |
| Kidney | 7.9 | Low |
| Pancreas | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | High expression |
| HEK293 | 12.3 | Moderate expression |
| HepG2 | 6.8 | Low expression |
| SH-SY5Y | 9.2 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Ala41Val) | Missense | 0.01% | Potential impact on protein stability |
| c.456G>A (p.Thr152Thr) | Synonymous | 0.05% | No known functional effect |
| c.789_790insA (p.Leu264Thrfs*5) | Frameshift | Rare | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations leading to truncated protein likely result in loss of regulatory function, increasing mitochondrial calcium uptake.
Gain of Function (GOF)
Missense mutations may alter protein conformation, potentially enhancing its dominant-negative effect, but specific examples are not well characterized.
Dominant Negative (DN)
MCUB naturally acts as a dominant-negative subunit; mutations that increase its stability or binding affinity could enhance this effect, further reducing calcium uptake.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial calcium ion transmembrane transport | • calcium ion binding |
| • mitochondrial membrane | • regulation of mitochondrial calcium ion concentration |
Pathways
• Mitochondrial calcium transport
• Calcium signaling pathway
• Apoptosis
Protein Summary
MCUB is a 45 kDa protein with a single transmembrane domain, localized to the inner mitochondrial membrane. It forms hetero-oligomers with MCU and other subunits (MICU1, MICU2, EMRE) to regulate mitochondrial calcium uptake. MCUB reduces the channel's calcium conductance, acting as a dominant-negative modulator. Its expression is tissue-specific and dynamically regulated in response to cellular stress and metabolic demands.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MCUB Knockout HEK293 Cell Line | EDJ-KQ14223 | Human | 55013 | Details Get a Quote |
| MCUB Knockout A-549 Cell Line | EDJ-KQ44186 | Human | 55013 | Details Get a Quote |
| MCUB Knockout HCT 116 Cell Line | EDJ-KQ44187 | Human | 55013 | Details Get a Quote |
| MCUB Knockout HeLa Cell Line | EDJ-KQ44188 | Human | 55013 | Details Get a Quote |
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