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

2009-06-01 Miroslav Varecha Affiliation

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

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 ID	Last Year	Title	Authors
18368494	2008	AMID: new insights on its intracellular localization and expression at apoptosis.	Bilyy R et al
17711848	2007	DNA binding suppresses human AIF-M2 activity and provides a connection between redox chemistry, reactive oxygen species, and apoptosis.	Gong M et al
15958387	2005	The human apoptosis-inducing protein AMID is an oxidoreductase with a modified flavin cofactor and DNA binding activity.	Marshall KR et al
16186796	2006	The p53-inducible apoptotic protein AMID is not required for normal development and tumor suppression.	Mei J et al
12135761	2002	A novel p53-inducible apoptogenic gene, PRG3, encodes a homologue of the apoptosis-inducing factor (AIF).	Ohiro Y et al
17347867	2007	Bioinformatic 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
15273740	2004	AMID 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 ID	Transcript ID	Uniprot
ENSG00000042286	ENST00000307864	Q9BRQ8
ENSG00000042286	ENST00000373248	Q9BRQ8
ENSG00000042286	ENST00000613322	Q9BRQ8

Expression (GTEx)

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

Pathway	Source	External ID
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
TP53 Regulates Transcription of Cell Death Genes	REACTOME	R-HSA-5633008
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release	REACTOME	R-HSA-6803204

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
31634899	2019	FSP1 is a glutathione-independent ferroptosis suppressor.	54
31634900	2019	The CoQ oxidoreductase FSP1 acts parallel to GPX4 to inhibit ferroptosis.	48
11980907	2002	AMID, an apoptosis-inducing factor-homologous mitochondrion-associated protein, induces caspase-independent apoptosis.	33
20635389	2011	Common alleles in candidate susceptibility genes associated with risk and development of epithelial ovarian cancer.	25
15958387	2005	The human apoptosis-inducing protein AMID is an oxidoreductase with a modified flavin cofactor and DNA binding activity.	19
26063804	2015	Apoptosis-inducing Factor (AIF) and Its Family Member Protein, AMID, Are Rotenone-sensitive NADH:Ubiquinone Oxidoreductases (NDH-2).	18
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
12135761	2002	A novel p53-inducible apoptogenic gene, PRG3, encodes a homologue of the apoptosis-inducing factor (AIF).	15
19270026	2009	Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival.	11
28534937	2017	The inhibitory effect of MEG3/miR-214/AIFM2 axis on the growth of T-cell lymphoblastic lymphoma.	10

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/aifm2