AIFM2: Apoptosis-Inducing Factor, Mitochondria-Associated 2
A mitochondrial oxidoreductase involved in caspase-independent apoptosis and ferroptosis regulation.
Gene Information Card
| Symbol | AIFM2 |
|---|---|
| Full Name | Apoptosis-Inducing Factor, Mitochondria-Associated 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.1 |
| NCBI Gene ID | 84883 ncbi.nlm.nih.gov/gene/84883 |
| Ensembl ID | ENSG00000119922 |
| UniProt ID | Q9BRQ8 |
| OMIM ID | 614443 |
| HGNC ID | 21411 |
| Aliases | AMID, PRG3 |
Description
AIFM2 (Apoptosis-Inducing Factor, Mitochondria-Associated 2), also known as AMID, encodes a mitochondrial oxidoreductase that induces caspase-independent apoptosis. It is involved in the regulation of ferroptosis, a form of regulated cell death dependent on iron and lipid peroxidation. The protein localizes to the mitochondrial outer membrane and interacts with NAD(P)H to promote cell death signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | AIFM2 expression is altered in multiple cancers; may promote or suppress apoptosis depending on context. | PubMed studies (e.g., PMID: 25620004, PMID: 30389907) |
| Ferroptosis-related disorders | AIFM2 acts as a ferroptosis suppressor by reducing mitochondrial reactive oxygen species. | Cell reports (PMID: 33357415) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Low |
| Brain | 4.2 | Low |
| Testis | 15.8 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.2 | Liver cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.5 | Cervical cancer cells |
| MCF7 | 5.1 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163Trp) | Missense | Rare (gnomAD <0.01%) | Unknown functional impact |
| c.1012G>A (p.Gly338Ser) | Missense | Rare | Predicted benign by in silico tools |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
| • GO:0006915 - apoptotic process | • GO:0005739 - mitochondrion |
| • GO:0016491 - oxidoreductase activity | • GO:0055114 - oxidation-reduction process |
| • GO:0042802 - identical protein binding |
Pathways
• Caspase-independent apoptosis
• Ferroptosis regulation
Protein Summary
AIFM2 is a 373-amino acid mitochondrial oxidoreductase with a FAD-binding domain. It shares homology with AIFM1 but lacks a mitochondrial localization signal. The protein induces apoptosis independently of caspases and has been implicated in ferroptosis suppression. It is expressed in multiple tissues, with highest levels in testis and liver.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AIFM2 Knockout HEK293 Cell Line | EDJ-KQ2297 | Human | 84883 | Details Get a Quote |
| AIFM2 Knockout A-549 Cell Line | EDJ-KQ22662 | Human | 84883 | Details Get a Quote |
| AIFM2 Knockout HCT 116 Cell Line | EDJ-KQ22663 | Human | 84883 | Details Get a Quote |
| AIFM2 Knockout HeLa Cell Line | EDJ-KQ22664 | Human | 84883 | Details Get a Quote |
| AIFM2 Knockout HT-1080 Cell Line | EDJ-KZ533 | Human | 84883 | Details Get a Quote |
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