MICU2: Mitochondrial Calcium Uptake 2
Gatekeeper of Mitochondrial Calcium Homeostasis
Gene Information Card
| Symbol | MICU2 |
|---|---|
| Full Name | Mitochondrial Calcium Uptake 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 13q12.3 |
| NCBI Gene ID | 221154 ncbi.nlm.nih.gov/gene/221154 |
| Ensembl ID | ENSG00000139618 |
| UniProt ID | Q8IYU8 |
| OMIM ID | 610174 |
| HGNC ID | 26592 |
| Aliases | EF-hand domain-containing family member A1 (EFHA1), FLJ12671 |
Description
MICU2 encodes a mitochondrial inner membrane protein that forms a heterodimer with MICU1 to regulate the mitochondrial calcium uniporter (MCU) complex. It acts as a gatekeeper, preventing calcium overload under resting conditions and facilitating rapid calcium uptake upon stimulation. MICU2 contains two EF-hand domains that sense cytosolic calcium levels, modulating MCU channel activity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial calcium overload disorders | Loss of MICU2 leads to unregulated MCU activity, causing mitochondrial calcium overload and cell death. | PMID: 23900241 |
| Neurodegenerative diseases | Dysregulation of mitochondrial calcium uptake via MICU2 alterations may contribute to neuronal cell death. | PMID: 27745981 |
| Cancer | Altered MICU2 expression affects mitochondrial metabolism and apoptosis, potentially influencing tumor progression. | PMID: 30318147 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | Medium |
| Skeletal Muscle | 10.8 | Medium |
| Liver | 6.2 | Low |
| Brain | 8.1 | Medium |
| Kidney | 9.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | High expression |
| HEK293 | 11.5 | Medium expression |
| SH-SY5Y | 9.8 | Medium expression |
| HepG2 | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | Rare | Alters EF-hand calcium binding, reducing MICU2-MICU1 interaction |
| c.632A>G (p.Asn211Ser) | Missense | Rare | Impairs mitochondrial calcium uptake regulation |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Likely loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt EF-hand domains or protein stability reduce MICU2's gatekeeping function, leading to unregulated MCU activity.
Gain of Function (GOF)
Not reported; gain-of-function mutations are not described in current literature.
Dominant Negative (DN)
Not reported; no dominant-negative variants have been characterized.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial calcium transport (Reactome: R-HSA-8949215)
• Calcium signaling pathway (KEGG: hsa04020)
Protein Summary
MICU2 is a 434-amino acid protein with two EF-hand calcium-binding domains. It localizes to the mitochondrial inner membrane and forms a disulfide-linked heterodimer with MICU1. This complex sets the calcium threshold for MCU activation, preventing spontaneous calcium influx and protecting mitochondria from calcium overload. MICU2 is essential for maintaining cellular calcium homeostasis and energy metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MICU2 Knockout HEK293 Cell Line | EDJ-KQ14261 | Human | 221154 | Details Get a Quote |
| MICU2 Knockout HCT 116 Cell Line | EDJ-KQ17919 | Human | 221154 | Details Get a Quote |
| MICU2 Knockout HeLa Cell Line | EDJ-KQ43059 | Human | 221154 | Details Get a Quote |
| MICU2 Knockout A-549 Cell Line | EDJ-KQ44272 | Human | 221154 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
