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

Summary

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: mouse all
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Genomic context

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_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
Phase separation of FSP1 promotes ferroptosis.
Title: Phase separation of FSP1 promotes ferroptosis.
Molecular characterization of AIFM2/FSP1 inhibition by iFSP1-like molecules.
Title: Molecular characterization of AIFM2/FSP1 inhibition by iFSP1-like molecules.
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.
Elevated FSP1 protects KRAS-mutated cells from ferroptosis during tumor initiation.
Title: Elevated FSP1 protects KRAS-mutated cells from ferroptosis during tumor initiation.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S2375 (e-PCR)
- UniSTS:31540

RH99102 (e-PCR)
- UniSTS:84147

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 more info	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

EC 1.6.5.-

NP_116186.1

EC 1.6.5.-

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)

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]
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]