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

Written2009-06Miroslav Varecha
Centre for Biomedical Image Analysis, Faculty of Informatics, Masaryk University, Botanicka 68a, Brno 60200, Czech Republic

(Note : for Links provided by Atlas : click)

Identity

Alias_namesAMID
apoptosis-inducing factor (AIF)-like mitochondrion-associated inducer of death
apoptosis-inducing factor, mitochondrion-associated, 2
Alias_symbol (synonym)FLJ14497
PRG3
Other aliasRP11-367H5.2
HGNC (Hugo) AIFM2
LocusID (NCBI) 84883
Atlas_Id 41842
Location 10q22.1  [Link to chromosome band 10q22]
Location_base_pair Starts at 70112267 and ends at 70132934 bp from pter ( according to hg19-Feb_2009)  [Mapping AIFM2.png]
Fusion genes
(updated 2016)
AIFM2 (10q22.1) / AIFM2 (10q22.1)AIFM2 (10q22.1) / GAS7 (17p13.1)TYSND1 (10q22.1) / AIFM2 (10q22.1)

DNA/RNA

Description The gene spans approximately 20.66kb. Number of exons: 14, minus strand.
Transcription The length of AIFM2 transcript is 3240 bp.

Protein

 
  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

Note
  
Entity 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

AMID: new insights on its intracellular localization and expression at apoptosis.
Bilyy R, Kit Y, Hellman U, Stoika R.
Apoptosis. 2008 May;13(5):729-32.
PMID 18368494
 
DNA binding suppresses human AIF-M2 activity and provides a connection between redox chemistry, reactive oxygen species, and apoptosis.
Gong M, Hay S, Marshall KR, Munro AW, Scrutton NS.
J Biol Chem. 2007 Oct 12;282(41):30331-40. Epub 2007 Aug 20.
PMID 17711848
 
The human apoptosis-inducing protein AMID is an oxidoreductase with a modified flavin cofactor and DNA binding activity.
Marshall KR, Gong M, Wodke L, Lamb JH, Jones DJ, Farmer PB, Scrutton NS, Munro AW.
J Biol Chem. 2005 Sep 2;280(35):30735-40. Epub 2005 Jun 15.
PMID 15958387
 
The p53-inducible apoptotic protein AMID is not required for normal development and tumor suppression.
Mei J, Webb S, Zhang B, Shu HB.
Oncogene. 2006 Feb 9;25(6):849-56.
PMID 16186796
 
A novel p53-inducible apoptogenic gene, PRG3, encodes a homologue of the apoptosis-inducing factor (AIF).
Ohiro Y, Garkavtsev I, Kobayashi S, Sreekumar KR, Nantz R, Higashikubo BT, Duffy SL, Higashikubo R, Usheva A, Gius D, Kley N, Horikoshi N.
FEBS Lett. 2002 Jul 31;524(1-3):163-71.
PMID 12135761
 
Bioinformatic and image analyses of the cellular localization of the apoptotic proteins endonuclease G, AIF, and AMID during apoptosis in human cells.
Varecha M, Amrichova J, Zimmermann M, Ulman V, Lukasova E, Kozubek M.
Apoptosis. 2007 Jul;12(7):1155-71.
PMID 17347867
 
AMID is a p53-inducible gene downregulated in tumors.
Wu M, Xu LG, Su T, Tian Y, Zhai Z, Shu HB.
Oncogene. 2004 Sep 2;23(40):6815-9.
PMID 15273740
 

Citation

This paper should be referenced as such :
Varecha, M
AIFM2 (apoptosis-inducing factor, mitochondrion-associated, 2)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(5):435-436.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/AIFM2ID41842ch10q22.html


External links

Nomenclature
HGNC (Hugo)AIFM2   21411
Cards
AtlasAIFM2ID41842ch10q22
Entrez_Gene (NCBI)AIFM2  84883  apoptosis inducing factor, mitochondria associated 2
AliasesAMID; PRG3
GeneCards (Weizmann)AIFM2
Ensembl hg19 (Hinxton)ENSG00000042286 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000042286 [Gene_View]  chr10:70112267-70132934 [Contig_View]  AIFM2 [Vega]
ICGC DataPortalENSG00000042286
TCGA cBioPortalAIFM2
AceView (NCBI)AIFM2
Genatlas (Paris)AIFM2
WikiGenes84883
SOURCE (Princeton)AIFM2
Genetics Home Reference (NIH)AIFM2
Genomic and cartography
GoldenPath hg38 (UCSC)AIFM2  -     chr10:70112267-70132934 -  10q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AIFM2  -     10q22.1   [Description]    (hg19-Feb_2009)
EnsemblAIFM2 - 10q22.1 [CytoView hg19]  AIFM2 - 10q22.1 [CytoView hg38]
Mapping of homologs : NCBIAIFM2 [Mapview hg19]  AIFM2 [Mapview hg38]
OMIM605159   
Gene and transcription
Genbank (Entrez)AF337957 AF506757 AI922797 AK027403 AK127353
RefSeq transcript (Entrez)NM_001198696 NM_032797
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AIFM2
Cluster EST : UnigeneHs.650680 [ NCBI ]
CGAP (NCI)Hs.650680
Alternative Splicing GalleryENSG00000042286
Gene ExpressionAIFM2 [ NCBI-GEO ]   AIFM2 [ EBI - ARRAY_EXPRESS ]   AIFM2 [ SEEK ]   AIFM2 [ MEM ]
Gene Expression Viewer (FireBrowse)AIFM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84883
GTEX Portal (Tissue expression)AIFM2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BRQ8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BRQ8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BRQ8
Splice isoforms : SwissVarQ9BRQ8
Catalytic activity : Enzyme1.-.-.- [ Enzyme-Expasy ]   1.-.-.-1.-.-.- [ IntEnz-EBI ]   1.-.-.- [ BRENDA ]   1.-.-.- [ KEGG ]   
PhosPhoSitePlusQ9BRQ8
Domains : Interpro (EBI)FAD/NAD-binding_dom    Pyridine_nuc-diS_OxRdtase_2   
Domain families : Pfam (Sanger)Pyr_redox_2 (PF07992)   
Domain families : Pfam (NCBI)pfam07992   
Conserved Domain (NCBI)AIFM2
DMDM Disease mutations84883
Blocks (Seattle)AIFM2
SuperfamilyQ9BRQ8
Human Protein AtlasENSG00000042286
Peptide AtlasQ9BRQ8
HPRD09797
IPIIPI00013909   IPI00759583   IPI00952737   
Protein Interaction databases
DIP (DOE-UCLA)Q9BRQ8
IntAct (EBI)Q9BRQ8
FunCoupENSG00000042286
BioGRIDAIFM2
STRING (EMBL)AIFM2
ZODIACAIFM2
Ontologies - Pathways
QuickGOQ9BRQ8
Ontology : AmiGODNA binding  electron-transferring-flavoprotein dehydrogenase activity  extracellular space  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane  lipid particle  cytosol  apoptotic mitochondrial changes  integral component of membrane  regulation of apoptotic process  positive regulation of apoptotic process  flavin adenine dinucleotide binding  oxidation-reduction process  
Ontology : EGO-EBIDNA binding  electron-transferring-flavoprotein dehydrogenase activity  extracellular space  cytoplasm  mitochondrion  mitochondrial outer membrane  mitochondrial outer membrane  lipid particle  cytosol  apoptotic mitochondrial changes  integral component of membrane  regulation of apoptotic process  positive regulation of apoptotic process  flavin adenine dinucleotide binding  oxidation-reduction process  
REACTOMEQ9BRQ8 [protein]
REACTOME PathwaysR-HSA-6803204 [pathway]   
NDEx NetworkAIFM2
Atlas of Cancer Signalling NetworkAIFM2
Wikipedia pathwaysAIFM2
Orthology - Evolution
OrthoDB84883
GeneTree (enSembl)ENSG00000042286
Phylogenetic Trees/Animal Genes : TreeFamAIFM2
HOVERGENQ9BRQ8
HOGENOMQ9BRQ8
Homologs : HomoloGeneAIFM2
Homology/Alignments : Family Browser (UCSC)AIFM2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAIFM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AIFM2
dbVarAIFM2
ClinVarAIFM2
1000_GenomesAIFM2 
Exome Variant ServerAIFM2
ExAC (Exome Aggregation Consortium)AIFM2 (select the gene name)
Genetic variants : HAPMAP84883
Genomic Variants (DGV)AIFM2 [DGVbeta]
DECIPHERAIFM2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAIFM2 
Mutations
ICGC Data PortalAIFM2 
TCGA Data PortalAIFM2 
Broad Tumor PortalAIFM2
OASIS PortalAIFM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAIFM2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAIFM2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch AIFM2
DgiDB (Drug Gene Interaction Database)AIFM2
DoCM (Curated mutations)AIFM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AIFM2 (select a term)
intoGenAIFM2
NCG5 (London)AIFM2
Cancer3DAIFM2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605159   
Orphanet
MedgenAIFM2
Genetic Testing Registry AIFM2
NextProtQ9BRQ8 [Medical]
TSGene84883
GENETestsAIFM2
Target ValidationAIFM2
Huge Navigator AIFM2 [HugePedia]
snp3D : Map Gene to Disease84883
BioCentury BCIQAIFM2
ClinGenAIFM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84883
Chemical/Pharm GKB GenePA162376150
Clinical trialAIFM2
Miscellaneous
canSAR (ICR)AIFM2 (select the gene name)
Probes
Litterature
PubMed22 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAIFM2
EVEXAIFM2
GoPubMedAIFM2
iHOPAIFM2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:20:21 CEST 2017

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