MitoProteome Database

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MT001430

UniProt Annotations

Entry Information

Gene Name	apoptosis-inducing factor, mitochondrion-associated, 2
Protein Entry	AIFM2_HUMAN
UniProt ID	Q9BRQ8
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=1 {ECO:0000269\|PubMed:11980907, ECO:0000269\|PubMed:12135761}; IsoId=Q9BRQ8-1; Sequence=Displayed; Name=2 {ECO:0000269\|PubMed:15489334}; IsoId=Q9BRQ8-2; Sequence=VSP_052047, VSP_052048; Note=No experimental confirmation available. {ECO:0000305};
Cofactor	Name=6-hydroxy-FAD; Xref=ChEBI:CHEBI:60470; Evidence={ECO:0000269\|PubMed:15958387}; Note=Binds 6-hydroxy-FAD non-covalently. {ECO:0000269\|PubMed:15958387};
Function	Oxidoreductase, which may play a role in mediating a p53/TP53-dependent apoptosis response. Probable oxidoreductase that acts as a caspase-independent mitochondrial effector of apoptotic cell death. Binds to DNA in a sequence-independent manner. May contribute to genotoxin-induced growth arrest. {ECO:0000269\|PubMed:11980907, ECO:0000269\|PubMed:12135761, ECO:0000269\|PubMed:15958387}.
Induction	Expression detected at 4 hours after induction by p53/TP53. Down-regulated in a wide range of human tumors. {ECO:0000269\|PubMed:12135761, ECO:0000269\|PubMed:15273740}.
Similarity	Belongs to the FAD-dependent oxidoreductase family. {ECO:0000305}.
Subcellular Location	Cytoplasm. Mitochondrion outer membrane.
Tissue Specificity	Detected in most normal tissues as two transcripts of 1.8 and 4.0 kb in length, respectively. Highly expressed in heart, moderately in liver and skeletal muscles, and expressed at low levels in placenta, lung, kidney, and pancreas. Both transcripts expressed following p53/TP53 induction. The shorter 1.8 kb transcript seems to be the major transcript in EB1 colon cancer cells. {ECO:0000269\|PubMed:12135761}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/AIFM2ID41842ch10q22.html";