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AIFM2 apoptosis inducing factor mitochondria associated 2 [ Homo sapiens (human) ]

Gene ID: 84883, updated on 30-Mar-2024

Summary

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Official Symbol
AIFM2provided by HGNC
Official Full Name
apoptosis inducing factor mitochondria associated 2provided by HGNC
Primary source
HGNC:HGNC:21411
See related
Ensembl:ENSG00000042286 MIM:605159; AllianceGenome:HGNC:21411
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AMID; FSP1; PRG3
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 colon cancer cells. [provided by RefSeq, Nov 2010]
Expression
Broad expression in fat (RPKM 26.6), thyroid (RPKM 7.3) and 22 other tissues See more
Orthologs
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Genomic context

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See AIFM2 in Genome Data Viewer
Location:
10q22.1
Exon count:
9
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70112271..70132825, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (70981272..71001807, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (71872027..71892581, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene collagen type XIII alpha 1 chain Neighboring gene uncharacterized LOC107984242 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2438 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71721094-71721594 Neighboring gene long intergenic non-protein coding RNA 2636 Neighboring gene macroH2A.2 histone Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71830815-71831314 Neighboring gene HNF4 motif-containing MPRA enhancer 70 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3495 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71892372-71892872 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:71898399-71898899 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2441 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:71916030-71916530 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 3497 Neighboring gene trypsin like peroxisomal matrix peptidase 1 Neighboring gene secretion associated Ras related GTPase 1A Neighboring gene calmodulin 2 pseudogene 2

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Molecular characterization of AIFM2/FSP1 inhibition by iFSP1-like molecules. Xavier da Silva TN, et al. Cell Death Dis, 2023 Apr 21. PMID 37080964, Free PMC Article
  2. A genome-wide CRISPR-Cas9 knockout screen identifies FSP1 as the warfarin-resistant vitamin K reductase. Jin DY, et al. Nat Commun, 2023 Feb 14. PMID 36788244, Free PMC Article
  3. Metabolic Intervention Nanoparticles for Triple-Negative Breast Cancer Therapy via Overcoming FSP1-Mediated Ferroptosis Resistance. Yang J, et al. Adv Healthc Mater, 2022 Jul. PMID 35395704
  4. AIFM2 blocks ferroptosis independent of ubiquinol metabolism. Dai E, et al. Biochem Biophys Res Commun, 2020 Mar 19. PMID 31964528
  5. Downregulation of AIF-2 Inhibits Proliferation, Migration, and Invasion of Human Glioma Cells via Mitochondrial Dysfunction. Chen W, et al. J Mol Neurosci, 2019 Jun. PMID 30982162

See all (47) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Circ0060467 sponges miR-6805 to promote hepatocellular carcinoma progression through regulating AIFM2 and GPX4 expression.
    Title: Circ0060467 sponges miR-6805 to promote hepatocellular carcinoma progression through regulating AIFM2 and GPX4 expression.
  2. YTHDC1 as a tumor progression suppressor through modulating FSP1-dependent ferroptosis suppression in lung cancer.
    Title: YTHDC1 as a tumor progression suppressor through modulating FSP1-dependent ferroptosis suppression in lung cancer.
  3. TRIM21-Promoted FSP1 Plasma Membrane Translocation Confers Ferroptosis Resistance in Human Cancers.
    Title: TRIM21-Promoted FSP1 Plasma Membrane Translocation Confers Ferroptosis Resistance in Human Cancers.
  4. Ferroptosis of macrophages facilitates bone loss in apical periodontitis via NRF2/FSP1/ROS pathway.
    Title: Ferroptosis of macrophages facilitates bone loss in apical periodontitis via NRF2/FSP1/ROS pathway.
  5. Sorafenib induces ferroptosis by promoting TRIM54-mediated FSP1 ubiquitination and degradation in hepatocellular carcinoma.
    Title: Sorafenib induces ferroptosis by promoting TRIM54-mediated FSP1 ubiquitination and degradation in hepatocellular carcinoma.
  6. Phase separation of FSP1 promotes ferroptosis.
    Title: Phase separation of FSP1 promotes ferroptosis.
  7. Molecular characterization of AIFM2/FSP1 inhibition by iFSP1-like molecules.
    Title: Molecular characterization of AIFM2/FSP1 inhibition by iFSP1-like molecules.
  8. Fear stress promotes glioma progression through inhibition of ferroptosis by enhancing FSP1 stability.
    Title: Fear stress promotes glioma progression through inhibition of ferroptosis by enhancing FSP1 stability.
  9. Elevated FSP1 protects KRAS-mutated cells from ferroptosis during tumor initiation.
    Title: Elevated FSP1 protects KRAS-mutated cells from ferroptosis during tumor initiation.
  10. A genome-wide CRISPR-Cas9 knockout screen identifies FSP1 as the warfarin-resistant vitamin K reductase.
    Title: A genome-wide CRISPR-Cas9 knockout screen identifies FSP1 as the warfarin-resistant vitamin K reductase.
Submit: New GeneRIF Correction See all GeneRIFs (28)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp686L1298

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables electron-transferring-flavoprotein dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables electron-transferring-flavoprotein dehydrogenase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables flavin adenine dinucleotide binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables flavin adenine dinucleotide binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in apoptotic mitochondrial changes IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within apoptotic mitochondrial changes IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular detoxification IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of ferroptosis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of ferroptosis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of apoptotic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in positive regulation of apoptotic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of cellular response to oxidative stress ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in respiratory electron transport chain IEA
Inferred from Electronic Annotation
more info
  
involved_in ubiquinone metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in vitamin K metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular space HDA PubMed 
located_in lipid droplet IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial outer membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial outer membrane TAS
Traceable Author Statement
more info
  
is_active_in mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ferroptosis suppressor protein 1
Names
apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death
apoptosis-inducing factor 2
apoptosis-inducing factor, mitochondrion-associated, 2
ferroptosis suppressor 1
p53-responsive gene 3 protein
NP_001185625.1
NP_116186.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001198696.2 → NP_001185625.1  ferroptosis suppressor protein 1

    See identical proteins and their annotated locations for NP_001185625.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AI922797, AL731540, BC023601, BP331371
    Consensus CDS
    CCDS7297.1
    UniProtKB/Swiss-Prot
    B3KXI0, Q63Z39, Q9BRQ8
    Related
    ENSP00000478931.1, ENST00000613322.4
    Conserved Domains (1) summary
    cl26176
    Location:39 → 356
    NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]

  2. NM_032797.6 → NP_116186.1  ferroptosis suppressor protein 1

    See identical proteins and their annotated locations for NP_116186.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AI922797, AL731540, BC023601, BG332787
    Consensus CDS
    CCDS7297.1
    UniProtKB/Swiss-Prot
    B3KXI0, Q63Z39, Q9BRQ8
    Related
    ENSP00000312370.1, ENST00000307864.3
    Conserved Domains (1) summary
    cl26176
    Location:39 → 356
    NirB; NAD(P)H-nitrite reductase, large subunit [Energy production and conversion]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

    Range
    70112271..70132825 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060934.1 Alternate T2T-CHM13v2.0

    Range
    70981272..71001807 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BRQ8.1 GenPept UniProtKB/Swiss-Prot:Q9BRQ8

Gene LinkOut

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