Gene Gene information from NCBI Gene database.
Entrez ID 84883
Gene name AIF family member 2
Gene symbol AIFM2
Synonyms (NCBI Gene)
AMIDFSP1PRG3
Chromosome 10
Chromosome location 10q22.1
Summary This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in
miRNA miRNA information provided by mirtarbase database.
301
miRTarBase ID miRNA Experiments Reference
MIRT023966 hsa-miR-1-3p Microarray 18668037
MIRT031880 hsa-miR-16-5p Proteomics 18668040
MIRT046525 hsa-miR-15b-5p CLASH 23622248
MIRT038645 hsa-miR-140-3p CLASH 23622248
MIRT437634 hsa-miR-150-5p MicroarrayqRT-PCR 22815788
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IDA 15958387
GO:0003677 Function DNA binding IEA
GO:0004174 Function Electron-transferring-flavoprotein dehydrogenase activity IBA
GO:0004174 Function Electron-transferring-flavoprotein dehydrogenase activity IDA 15958387
GO:0005515 Function Protein binding IPI 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605159 21411 ENSG00000042286
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9BRQ8
Protein name Ferroptosis suppressor protein 1 (FSP1) (EC 1.6.5.-) (Apoptosis-inducing factor homologous mitochondrion-associated inducer of death) (AMID) (p53-responsive gene 3 protein)
Protein function A NAD(P)H-dependent oxidoreductase that acts as a key inhibitor of ferroptosis (PubMed:31634899, PubMed:31634900, PubMed:35922516, PubMed:39881208). At the plasma membrane, catalyzes reduction of coenzyme Q/ubiquinone-10 to ubiquinol-10, a lipop
PDB 8JSC , 8WIK , 8YO8 , 8YOQ , 8YOX
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07992 Pyr_redox_2 12 302 Pyridine nucleotide-disulphide oxidoreductase Domain
Tissue specificity TISSUE SPECIFICITY: Detected in most normal tissues as two transcripts of 1.8 and 4.0 kb in length, respectively. Highly expressed in heart, moderately in liver and skeletal muscles, and expressed at low levels in placenta, lung, kidney, and pancreas. Bot
Sequence
Sequence length 373
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  p53 signaling pathway   TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Brain Neoplasms Brain Neoplasms BEFREE 27058420
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 38393890 Stimulate
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke GWASDB_DG 23422753
★☆☆☆☆
Found in Text Mining only
Crohn Disease Crohn disease Pubtator 22412388 Associate
★☆☆☆☆
Found in Text Mining only
Hypereosinophilic Syndrome Hypereosinophilic syndrome Pubtator 17082653 Associate
★☆☆☆☆
Found in Text Mining only
Leukemia Myeloid Acute Myeloid leukemia Pubtator 38032290 Associate
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 27058420, 28768521
★☆☆☆☆
Found in Text Mining only
Ovarian Neoplasms Ovarian neoplasm Pubtator 20635389 Associate
★☆☆☆☆
Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma Lymphoblastic Leukemia BEFREE 28534937
★☆☆☆☆
Found in Text Mining only
Rheumatoid Arthritis Rheumatoid arthritis GWASCAT_DG 30891314
★★☆☆☆
Found in Text Mining + Unknown/Other Associations