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    AIFM2 AIF family member 2 [ Homo sapiens (human) ]

    Gene ID: 84883, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AIFM2provided by HGNC
    Official Full Name
    AIF family member 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
    mouse all
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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_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (70112271..70132825, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (70981272..71001807, complement)
    RS_2024_09 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 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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    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)

    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 mitochondria associated 2
    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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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