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Aliases for AIFM2 Gene

Aliases for AIFM2 Gene

  • Apoptosis Inducing Factor, Mitochondria Associated 2 2 3 5
  • Apoptosis-Inducing Factor (AIF)-Like Mitochondrion-Associated Inducer Of Death 2 3
  • Apoptosis-Inducing Factor, Mitochondrion-Associated, 2 2 3
  • P53-Responsive Gene 3 Protein 3 4
  • AMID 3 4
  • PRG3 3 4
  • Apoptosis-Inducing Factor (AIF)-Homologous Mitochondrion-Associated Inducer Of Death 3
  • Apoptosis-Inducing Factor Homologous Mitochondrion-Associated Inducer Of Death 4
  • Apoptosis-Inducing Factor-Like Mitochondrion-Associated Inducer Of Death 4
  • Apoptosis-Inducing Factor 2 3
  • EC 1.-.-.- 4

External Ids for AIFM2 Gene

Previous HGNC Symbols for AIFM2 Gene

  • AMID

Previous GeneCards Identifiers for AIFM2 Gene

  • GC10M071528
  • GC10M071857
  • GC10M065864

Summaries for AIFM2 Gene

Entrez Gene Summary for AIFM2 Gene

  • This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010]

GeneCards Summary for AIFM2 Gene

AIFM2 (Apoptosis Inducing Factor, Mitochondria Associated 2) is a Protein Coding gene. Among its related pathways are TP53 Regulates Transcription of Cell Death Genes and Apoptosis Modulation and Signaling. GO annotations related to this gene include oxidoreductase activity and NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for AIFM2 Gene

  • 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.

Gene Wiki entry for AIFM2 Gene

Additional gene information for AIFM2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AIFM2 Gene

Genomics for AIFM2 Gene

Regulatory Elements for AIFM2 Gene

Enhancers for AIFM2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H070173 1.2 Ensembl ENCODE 29.1 -41.4 -41426 1 ELF3 MLX ARID4B ZBTB40 THRB RARA SLC30A9 ZNF766 ETV6 CREM AIFM2 TYSND1 SAR1A RPS25P9
GH10H070168 1.1 ENCODE 27.5 -37.2 -37228 2 HDGF PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A YY1 ZNF766 ZNF207 TYSND1 AIFM2 SAR1A PPA1 CALM2P2
GH10H070144 1.4 ENCODE dbSUPER 18 -13.5 -13499 3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 ZNF207 PPA1 AIFM2 SAR1A PIR38078 PIR42845 GC10M070148
GH10H070231 1.4 Ensembl ENCODE 14 -100.8 -100798 4 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 PPA1 AIFM2 SAR1A NPFFR1 GC10M070217
GH10H070190 1.1 Ensembl ENCODE 16.3 -59.4 -59400 4 HDAC1 CEBPG FOSL1 ZNF121 GATA3 ZNF316 ZSCAN5C SCRT2 FOS MAFK PPA1 AIFM2 SAR1A CALM2P2 TYSND1 RPS25P9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around AIFM2 on UCSC Golden Path with GeneCards custom track

Promoters for AIFM2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000029347 234 1001 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS SP3

Genomic Location for AIFM2 Gene

Chromosome:
10
Start:
70,098,223 bp from pter
End:
70,132,934 bp from pter
Size:
34,712 bases
Orientation:
Minus strand

Genomic View for AIFM2 Gene

Genes around AIFM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AIFM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIFM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIFM2 Gene

Proteins for AIFM2 Gene

  • Protein details for AIFM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BRQ8-AIFM2_HUMAN
    Recommended name:
    Apoptosis-inducing factor 2
    Protein Accession:
    Q9BRQ8
    Secondary Accessions:
    • B3KXI0
    • Q63Z39

    Protein attributes for AIFM2 Gene

    Size:
    373 amino acids
    Molecular mass:
    40527 Da
    Cofactor:
    Name=6-hydroxy-FAD; Xref=ChEBI:CHEBI:60470;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for AIFM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AIFM2 Gene

Post-translational modifications for AIFM2 Gene

  • Ubiquitination at posLast=193193
  • Modification sites at PhosphoSitePlus

Other Protein References for AIFM2 Gene

No data available for DME Specific Peptides for AIFM2 Gene

Domains & Families for AIFM2 Gene

Gene Families for AIFM2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for AIFM2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BRQ8

UniProtKB/Swiss-Prot:

AIFM2_HUMAN :
  • Belongs to the FAD-dependent oxidoreductase family.
Family:
  • Belongs to the FAD-dependent oxidoreductase family.
genes like me logo Genes that share domains with AIFM2: view

Function for AIFM2 Gene

Molecular function for AIFM2 Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Expression detected at 4 hours after induction by p53/TP53. Down-regulated in a wide range of human tumors.

Enzyme Numbers (IUBMB) for AIFM2 Gene

Phenotypes From GWAS Catalog for AIFM2 Gene

Gene Ontology (GO) - Molecular Function for AIFM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IDA 15958387
GO:0004174 electron-transferring-flavoprotein dehydrogenase activity IDA 15958387
GO:0016491 oxidoreductase activity IEA --
GO:0050660 flavin adenine dinucleotide binding IDA 15958387
genes like me logo Genes that share ontologies with AIFM2: view
genes like me logo Genes that share phenotypes with AIFM2: view

Animal Models for AIFM2 Gene

MGI Knock Outs for AIFM2:

Animal Model Products

  • Taconic Biosciences Mouse Models for AIFM2

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AIFM2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for AIFM2 Gene

Localization for AIFM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AIFM2 Gene

Cytoplasm. Mitochondrion outer membrane. Membrane; Lipid-anchor.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AIFM2 gene
Compartment Confidence
extracellular 5
mitochondrion 5
cytosol 5
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AIFM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IDA 22664934
GO:0005737 cytoplasm IDA 12135761
GO:0005739 mitochondrion IDA 11980907
GO:0005741 mitochondrial outer membrane TAS --
GO:0005811 lipid particle IDA 14741744
genes like me logo Genes that share ontologies with AIFM2: view

Pathways & Interactions for AIFM2 Gene

genes like me logo Genes that share pathways with AIFM2: view

Gene Ontology (GO) - Biological Process for AIFM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0008637 apoptotic mitochondrial changes IDA 11980907
GO:0042981 regulation of apoptotic process TAS --
GO:0043065 positive regulation of apoptotic process IDA 11980907
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with AIFM2: view

No data available for SIGNOR curated interactions for AIFM2 Gene

Drugs & Compounds for AIFM2 Gene

(1) Drugs for AIFM2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
genes like me logo Genes that share compounds with AIFM2: view

Transcripts for AIFM2 Gene

Unigene Clusters for AIFM2 Gene

Apoptosis-inducing factor, mitochondrion-associated, 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for AIFM2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for AIFM2 Gene

No ASD Table

Relevant External Links for AIFM2 Gene

GeneLoc Exon Structure for
AIFM2
ECgene alternative splicing isoforms for
AIFM2

Expression for AIFM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AIFM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AIFM2 Gene

This gene is overexpressed in Adipose - Visceral (Omentum) (x4.4) and Adipose - Subcutaneous (x4.1).

Protein differential expression in normal tissues from HIPED for AIFM2 Gene

This gene is overexpressed in Nasal epithelium (20.3), Nasopharynx (16.7), and Breast (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for AIFM2 Gene



NURSA nuclear receptor signaling pathways regulating expression of AIFM2 Gene:

AIFM2

SOURCE GeneReport for Unigene cluster for AIFM2 Gene:

Hs.650680

mRNA Expression by UniProt/SwissProt for AIFM2 Gene:

Q9BRQ8-AIFM2_HUMAN
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.

Evidence on tissue expression from TISSUES for AIFM2 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with AIFM2: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for AIFM2 Gene

Orthologs for AIFM2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AIFM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIFM2 34 33
  • 99.11 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AIFM2 34 33
  • 87.04 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aifm2 33
  • 86.77 (n)
mouse
(Mus musculus)
Mammalia Aifm2 16 34 33
  • 86.68 (n)
dog
(Canis familiaris)
Mammalia AIFM2 34 33
  • 86.33 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia AIFM2 34
  • 76 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AIFM2 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIFM2 33 34
  • 69.27 (n)
lizard
(Anolis carolinensis)
Reptilia AIFM2 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aifm2 33
  • 61.11 (n)
Str.15881 33
zebrafish
(Danio rerio)
Actinopterygii LOC557507 33
  • 58.42 (n)
AIFM2 34
  • 56 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2755 33
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G44190 33
  • 45.1 (n)
rice
(Oryza sativa)
Liliopsida Os02g0150300 33
  • 44.26 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 40 (a)
OneToMany
-- 34
  • 38 (a)
OneToMany
CSA.9377 34
  • 38 (a)
OneToMany
-- 34
  • 33 (a)
OneToMany
-- 34
  • 33 (a)
OneToMany
-- 34
  • 28 (a)
OneToMany
Species where no ortholog for AIFM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AIFM2 Gene

ENSEMBL:
Gene Tree for AIFM2 (if available)
TreeFam:
Gene Tree for AIFM2 (if available)

Paralogs for AIFM2 Gene

No data available for Paralogs for AIFM2 Gene

Variants for AIFM2 Gene

Sequence variations from dbSNP and Humsavar for AIFM2 Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs1000016694 -- 70,132,322(+) CTCTC(A/C)CACCT intron-variant
rs1000237937 -- 70,121,012(+) TGGCC(C/T)CCCAG intron-variant
rs1000452802 -- 70,132,487(+) AAACC(A/C)GGAGG intron-variant
rs1000523973 -- 70,126,943(+) GGCCA(A/C)CCTGG intron-variant
rs1000541031 -- 70,119,873(+) TTTCT(C/T)GCTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for AIFM2 Gene

Variant ID Type Subtype PubMed ID
esv32737 CNV gain+loss 17666407
nsv551479 CNV loss 21841781
nsv7054 CNV insertion 18451855

Variation tolerance for AIFM2 Gene

Residual Variation Intolerance Score: 85.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.34; 76.78% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AIFM2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AIFM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIFM2 Gene

Disorders for AIFM2 Gene

Relevant External Links for AIFM2

Genetic Association Database (GAD)
AIFM2
Human Genome Epidemiology (HuGE) Navigator
AIFM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AIFM2

No disorders were found for AIFM2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for AIFM2 Gene

Publications for AIFM2 Gene

  1. The human apoptosis-inducing protein AMID is an oxidoreductase with a modified flavin cofactor and DNA binding activity. (PMID: 15958387) Marshall KR … Munro AW (The Journal of biological chemistry 2005) 2 3 4 22 60
  2. AMID, an apoptosis-inducing factor-homologous mitochondrion-associated protein, induces caspase-independent apoptosis. (PMID: 11980907) Wu M … Shu HB (The Journal of biological chemistry 2002) 2 3 4 60
  3. A novel p53-inducible apoptogenic gene, PRG3, encodes a homologue of the apoptosis-inducing factor (AIF). (PMID: 12135761) Ohiro Y … Horikoshi N (FEBS letters 2002) 2 3 4 60
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  5. Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival. (PMID: 19270026) Quaye L … Gayther SA (Human molecular genetics 2009) 3 45 60

Products for AIFM2 Gene

Sources for AIFM2 Gene

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