MIGA2
Mitoguardin 2
Gene Information Card
| Symbol | MIGA2 |
|---|---|
| Full Name | Mitoguardin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q21.33 |
| NCBI Gene ID | 126321 ncbi.nlm.nih.gov/gene/126321 |
| Ensembl ID | ENSG00000165029 |
| UniProt ID | Q8IWE4 |
| OMIM ID | 616005 |
| HGNC ID | 26479 |
| Aliases | FAM73B, C9orf105 |
Description
MIGA2 (mitoguardin 2) encodes a mitochondrial outer membrane protein involved in mitochondrial fusion. It forms a complex with MIGA1 to regulate mitochondrial morphology and function. The protein is widely expressed and plays a role in cellular metabolism and stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | Not available |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 10.2 | Medium |
| Heart | 8.5 | Medium |
| Brain | 6.1 | Low |
| Kidney | 7.8 | Medium |
| Testis | 12.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.3 | Cervical cancer cell line |
| HEK293 | 8.1 | Embryonic kidney cell line |
| HepG2 | 11.0 | Liver cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
Not characterized
Gain of Function (GOF)
Not characterized
Dominant Negative (DN)
Not characterized
View complete mutation data：
Gene Ontology (GO)
| • mitochondrial fusion | • mitochondrial outer membrane |
| • protein homodimerization activity | • mitochondrion organization |
Pathways
• Mitochondrial fusion (Reactome: R-HSA-1268020)
Protein Summary
MIGA2 is a 727-amino acid protein localized to the mitochondrial outer membrane. It contains a transmembrane domain and interacts with MIGA1 to promote mitochondrial fusion. The protein is conserved in eukaryotes and is essential for maintaining mitochondrial network integrity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MIGA2 Knockout HEK293 Cell Line | EDJ-KQ10239 | Human | 84895 | Details Get a Quote |
| MIGA2 Knockout A-549 Cell Line | EDJ-KQ37424 | Human | 84895 | Details Get a Quote |
| MIGA2 Knockout HCT 116 Cell Line | EDJ-KQ37425 | Human | 84895 | Details Get a Quote |
| MIGA2 Knockout HeLa Cell Line | EDJ-KQ37426 | Human | 84895 | Details Get a Quote |
