AIFM2 (apoptosis-inducing factor, mitochondrion-associated, 2)

2009-06-01   Miroslav Varecha  

Centre for Biomedical Image Analysis, Faculty of Informatics, Masaryk University, Botanicka 68a, Brno 60200, Czech Republic

Identity

HGNC
AIFM2
LOCATION
10q22.1
LOCUSID
84883
ALIAS
AMID,FSP1,PRG3
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

The gene spans approximately 20.66kb. Number of exons: 14, minus strand.

Transcription

The length of AIFM2 transcript is 3240 bp.

Proteins

Atlas Image
Stably transfected (by lipofection) living cells U-2 OS (human osteosarcoma) cell line with plasmid producing red fluorescent fusion protein AIFM2-tHcRed.

Description

AIFM2 is oxidoreductase of 373 AA lenght. It is predicted to take part in caspase-independent apoptosis similarly to homologous AIFM1 (AIF, PDCD8). AIFM2 is p53-responsive gene and production of AIFM2 was found to be suppressed in many human cancers.

Expression

AIFM2 was detected in most healthy tissues in form of two transcripts (1.8 and 4.0 kb). It is highly expressed in heart, moderately in liver and skeletal muscles, and expressed at low levels in placenta, lung, kidney, and pancreas.

Localisation

Cytoplasmic side of cellular membranes.

Function

Oxidoreductase, that may be important in mediating a TP53/p53-dependent apoptotic response. Predicted to be caspase-independent effector of apoptotic cell death, but not shown by other authors. Function of this protein is thus unknown.

Homology

Homologous to AIFM1 (AIF, PDCD8). They share 22% aminoacid identity. It belongs to the FAD-dependent oxidoreductase family.

Implicated in

Entity name
Apoptosis and Cancer
Note
AIFM2 expression was found to be activated by overexpression of p53, which leads to cell cycle arrest or apoptosis. Inactivation of p53 was observed in many human cancers.

Bibliography

Pubmed IDLast YearTitleAuthors
183684942008AMID: new insights on its intracellular localization and expression at apoptosis.Bilyy R et al
177118482007DNA binding suppresses human AIF-M2 activity and provides a connection between redox chemistry, reactive oxygen species, and apoptosis.Gong M et al
159583872005The human apoptosis-inducing protein AMID is an oxidoreductase with a modified flavin cofactor and DNA binding activity.Marshall KR et al
161867962006The p53-inducible apoptotic protein AMID is not required for normal development and tumor suppression.Mei J et al
121357612002A novel p53-inducible apoptogenic gene, PRG3, encodes a homologue of the apoptosis-inducing factor (AIF).Ohiro Y et al
173478672007Bioinformatic and image analyses of the cellular localization of the apoptotic proteins endonuclease G, AIF, and AMID during apoptosis in human cells.Varecha M et al
152737402004AMID is a p53-inducible gene downregulated in tumors.Wu M et al

Other Information

Locus ID:

NCBI: 84883
MIM: 605159
HGNC: 21411
Ensembl: ENSG00000042286

Variants:

dbSNP: 84883
ClinVar: 84883
TCGA: ENSG00000042286
COSMIC: AIFM2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000042286ENST00000307864Q9BRQ8
ENSG00000042286ENST00000373248Q9BRQ8
ENSG00000042286ENST00000613322Q9BRQ8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
TP53 Regulates Transcription of Cell Death GenesREACTOMER-HSA-5633008
TP53 Regulates Transcription of Genes Involved in Cytochrome C ReleaseREACTOMER-HSA-6803204

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
382445932024Circ0060467 sponges miR-6805 to promote hepatocellular carcinoma progression through regulating AIFM2 and GPX4 expression.1
382445932024Circ0060467 sponges miR-6805 to promote hepatocellular carcinoma progression through regulating AIFM2 and GPX4 expression.1
364434412023Elevated FSP1 protects KRAS-mutated cells from ferroptosis during tumor initiation.28
364849542023Fear stress promotes glioma progression through inhibition of ferroptosis by enhancing FSP1 stability.6
367882442023A genome-wide CRISPR-Cas9 knockout screen identifies FSP1 as the warfarin-resistant vitamin K reductase.22
370809642023Molecular characterization of AIFM2/FSP1 inhibition by iFSP1-like molecules.12
373807712023Phase separation of FSP1 promotes ferroptosis.39
375877732023TRIM21-Promoted FSP1 Plasma Membrane Translocation Confers Ferroptosis Resistance in Human Cancers.7
376199582023Ferroptosis of macrophages facilitates bone loss in apical periodontitis via NRF2/FSP1/ROS pathway.2
376950692023Sorafenib induces ferroptosis by promoting TRIM54-mediated FSP1 ubiquitination and degradation in hepatocellular carcinoma.5
379039902023YTHDC1 as a tumor progression suppressor through modulating FSP1-dependent ferroptosis suppression in lung cancer.6
364434412023Elevated FSP1 protects KRAS-mutated cells from ferroptosis during tumor initiation.28
364849542023Fear stress promotes glioma progression through inhibition of ferroptosis by enhancing FSP1 stability.6
367882442023A genome-wide CRISPR-Cas9 knockout screen identifies FSP1 as the warfarin-resistant vitamin K reductase.22
370809642023Molecular characterization of AIFM2/FSP1 inhibition by iFSP1-like molecules.12

Citation

Miroslav Varecha

AIFM2 (apoptosis-inducing factor, mitochondrion-associated, 2)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/41842/favicon/favicon/apple-touch-icon.png