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

Identity

Other namesAMID
PRG3
RP11-367H5.2
HGNC (Hugo) AIFM2
Location 10q22.1
Location_base_pair Starts at 71542036 and ends at 71562696 bp from pter ( according to hg18-Mar_2006)  [Mapping]

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

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.
  

External links

Nomenclature
HGNC (Hugo)AIFM2   21411
Entrez_Gene (NCBI)AIFM2  84883  apoptosis-inducing factor, mitochondrion-associated, 2
Cards
AtlasAIFM2ID41842ch10q22
GeneCards (Weizmann)AIFM2
Ensembl (Hinxton)ENSG00000042286 [Gene_View]  AIFM2 [Vega]
AceView (NCBI)AIFM2
Genatlas (Paris)AIFM2
euGene (Indiana)84883
SOURCE (Stanford)NM_032797
Gene Expression (Array Express) ENSG00000042286
Genomic and cartography
GoldenPath (UCSC)AIFM2  -  10q22.1   chr10:71542036-71562696 -  10q22.1   [Description]    (hg18-Mar_2006)
EnsemblAIFM2 - 10q22.1 [CytoView]
Mapping of homologs : NCBIAIFM2 [Mapview]
OMIM605159   
Gene and transcription
Gene : Genbank (Entrez)AF337957 AF506757 AK027403 AK127353 BC006121
Reference sequence (RefSeq transcript) :SRSNM_032797
Reference transcript : EntrezNM_032797
RefSeq genomic : SRSAC_000053 AC_000142 NC_000010 NT_030059 NW_001837986 NW_924796
RefSeq genomic : EntrezAC_000053 AC_000142 NC_000010 NT_030059 NW_001837986 NW_924796
Consensus coding sequences : CCDS NCBIAIFM2
Cluster EST : UnigeneHs.655377 [ SRS ] Hs.655377 [ NCBI ]
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtQ9BRQ8 (SRS) Q9BRQ8 (Expasy) Q9BRQ8 (Uniprot)
With graphics : InterProQ9BRQ8
Splice isoforms : VarSplice FASTAQ9BRQ8(VarSplice FASTA)
Domains : Interpro (SRS)FAD_pyr_nucl-diS_OxRdtase    Pyr_OxRdtase_NAD_bd    Pyridine_nuc-diS_OxRdtase_2   
Domains : Interpro (EBI)FAD_pyr_nucl-diS_OxRdtase    Pyr_OxRdtase_NAD_bd    Pyridine_nuc-diS_OxRdtase_2   
Related proteins : CluSTrQ9BRQ8
Domain families : Pfam SRSPyr_redox (PF00070)    Pyr_redox_2 (PF07992)   
Domain families : Pfam SangerPyr_redox (PF00070)    Pyr_redox_2 (PF07992)   
Domain families : Pfam NCBIpfam00070    pfam07992   
Blocks (Seattle)Q9BRQ8
Crystal structure of protein : PDB SRS
Crystal structure of protein : PDBSum
Crystal structure of protein : IMB
Crystal structure of protein : PDB RSDB
HPRD09797
Protein Interaction databases
DIP (DOE-UCLA)Q9BRQ8
IntAct (EBI)Q9BRQ8
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIAIFM2
SNP : GeneSNP UtahAIFM2
SNP : HGBaseAIFM2
Genetic variants : HAPMAPAIFM2
Somatic Mutations in Cancer : COSMICAIFM2 
Mutations and Diseases : HGMDAIFM2
Hereditary diseases : OMIM605159   
Hereditary diseases : GENETests605159   
Diseases : Genetic AssociationAIFM2
General knowledge
Homologs : HomoloGeneAIFM2
Homology/Alignments : Family Browser UCSCAIFM2
Phylogenetic Trees/Animal Genes : TreeFamAIFM2
Catalytic activity : Enzyme1.-.-.- [ Enzyme-Expasy ]   1.-.-.- [ Enzyme-SRS ]   1.-.-.- [ IntEnz-EBI ]   1.-.-.- [ BRENDA ]   1.-.-.- [ KEGG ]   
Chemical/Protein Interactions : CTD84883
Keywords Ontology : AmiGODNA binding  electron-transferring-flavoprotein dehydrogenase activity  cytoplasm  mitochondrion  mitochondrial outer membrane  cytosol  induction of apoptosis  induction of apoptosis  apoptotic mitochondrial changes  membrane  integral to membrane  oxidoreductase activity  chromosome condensation  FAD binding  oxidation reduction  
Keywords Ontology : EGO-EBIDNA binding  electron-transferring-flavoprotein dehydrogenase activity  cytoplasm  mitochondrion  mitochondrial outer membrane  cytosol  induction of apoptosis  induction of apoptosis  apoptotic mitochondrial changes  membrane  integral to membrane  oxidoreductase activity  chromosome condensation  FAD binding  oxidation reduction  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesAIFM2 Related clones (RZPD - Berlin)
Literature
PubMed13 Pubmed reference(s) in Entrez
PubGeneAIFM2

Bibliography

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
 
AMID, an apoptosis-inducing factor-homologous mitochondrion-associated protein, induces caspase-independent apoptosis.
Wu M, Xu LG, Li X, Zhai Z, Shu HB.
J Biol Chem. 2002 Jul 12;277(28):25617-23. Epub 2002 Apr 29.
PMID 11980907
 
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
 
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
 
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
 
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: 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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written06-2009Miroslav Varecha
Centre for Biomedical Image Analysis, Faculty of Informatics, Masaryk University, Botanicka 68a, Brno 60200, Czech Republic

Citation

This paper should be referenced as such :
Varecha M . AIFM2 (apoptosis-inducing factor, mitochondrion-associated, 2). Atlas Genet Cytogenet Oncol Haematol. June 2009 .
URL : http://AtlasGeneticsOncology.org/Genes/AIFM2ID41842ch10q22.html

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indexed on : Sat Feb 27 10:53:39 CET 2010

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