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AIFM3 Gene

protein-coding   GIFtS: 50
GCID: GC22P021355

Apoptosis-Inducing Factor, Mitochondrion-Associated, 3

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Apoptosis-Inducing Factor, Mitochondrion-Associated, 31 2
AIFL2 3
Apoptosis-Inducing Factor 32
Apoptosis-Inducing Factor Like2
EC 1.-.-.-3
Apoptosis-Inducing Factor-Like Protein3

External Ids:    HGNC: 263981   Entrez Gene: 1502092   Ensembl: ENSG000001837737   UniProtKB: Q96NN93   

Export aliases for AIFM3 gene to outside databases

Previous GC identifers: GC22P019649 GC22P021321 GC22P004589 GC22P021322 GC22P021326


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for AIFM3 Gene:
AIFM3 (apoptosis-inducing factor, mitochondrion-associated, 3) is a protein-coding gene. GO annotations related to this gene include oxidoreductase activity and 2 iron, 2 sulfur cluster binding. An important paralog of this gene is AIFM1.

UniProtKB/Swiss-Prot: AIFM3_HUMAN, Q96NN9
Function: Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the AIFM3 gene promoter:
         POU2F1   POU2F1b   POU2F1a   Pax-4a   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): AIFM3 promoter sequence
   Search Chromatin IP Primers for AIFM3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AIFM3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.21   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

AIFM3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AIFM3 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P021355:  view genomic region     (about GC identifiers)

Start:
21,319,396 bp from pter      End:
21,335,649 bp from pter
Size:
16,254 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: AIFM3_HUMAN, Q96NN9 (See protein sequence)
Recommended Name: Apoptosis-inducing factor 3  
Size: 605 amino acids; 66791 Da
Secondary accessions: B7WP37 D3DX37 D3DX38 Q6ZT44 Q8N1V3 Q8N5E0
Alternative splicing: 3 isoforms:  Q96NN9-1   Q96NN9-2   Q96NN9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for AIFM3: NX_Q96NN9

Explore proteomics data for AIFM3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AIFM3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001018070.1  NP_001139760.1  NP_653305.1  

    ENSEMBL proteins: 
     ENSP00000382120   ENSP00000382116   ENSP00000412973   ENSP00000402067   ENSP00000399657  
     ENSP00000406989   ENSP00000385800   ENSP00000335369   ENSP00000390798   ENSP00000327671  

    AIFM3 Human Recombinant Protein Products:

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    Novus Biologicals AIFM3 Proteins
    Novus Biologicals AIFM3 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for AIFM3

     
    Search eBioscience for Proteins for AIFM3 

     
    antibodies-online proteins for AIFM3 (3 products) 

     
    antibodies-online peptides for AIFM3

    AIFM3 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for AIFM3
    Cloud-Clone Corp. Antibodies for AIFM3
    ThermoFisher Antibodies for AIFM3
    LSBio Antibodies in human, mouse, rat for AIFM3
    antibodies-online antibodies for AIFM3 (43 products) 

    AIFM3 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for AIFM3
    Cloud-Clone Corp. CLIAs for AIFM3
    Search eBioscience for ELISAs for AIFM3 
    antibodies-online kits for AIFM3 (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 8):
     IPR013027 FAD_pyr_nucl-diS_OxRdtase
     IPR017941 Rieske_2Fe-2S
     IPR028202 Reductase_C
     IPR000103 Pyridine_nuc-diS_OxRdtase_2
     IPR004099 Pyr_nucl-diS_OxRdtase_dimer

    Graphical View of Domain Structure for InterPro Entry Q96NN9

    ProtoNet protein and cluster: Q96NN9

    3 Blocks protein domains:
    IPB001327 Pyridine nucleotide-disulphide oxidoreductase
    IPB005806 Rieske [2Fe-2S] domain
    IPB013027 FAD-dependent pyridine nucleotide reductase signature


    UniProtKB/Swiss-Prot: AIFM3_HUMAN, Q96NN9
    Domain: The Rieske domain induces apoptosis
    Similarity: Belongs to the FAD-dependent oxidoreductase family
    Similarity: Contains 1 Rieske domain


    Find genes that share domains with AIFM3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AIFM3_HUMAN, Q96NN9
    Function: Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential

         Enzyme Number (IUBMB): EC 1.-.-.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016491oxidoreductase activity IEA--
    GO:0046872metal ion binding IEA--
    GO:0050660flavin adenine dinucleotide binding IEA--
    GO:00515372 iron, 2 sulfur cluster binding IEA--
         
    Find genes that share ontologies with AIFM3           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for AIFM3:
     G0/1 arrest  Increased G1 DNA content 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for AIFM3
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AIFM3
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AIFM3

    miRNA
    Products:
        
    miRTarBase miRNAs that target AIFM3:
    hsa-mir-210-3p (MIRT006326)

    Block miRNA regulation of human, mouse, rat AIFM3 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate AIFM3:
    hsa-miR-922 hsa-miR-1271 hsa-miR-590-3p hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidAIFM3 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for AIFM3
    Predesigned siRNA for gene silencing in human, mouse, rat AIFM3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for AIFM3

    Clone
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    OriGene clones in human, mouse for AIFM3 (see all 18)
    OriGene ORF clones in mouse, rat for AIFM3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): AIFM3 (NM_144704)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AIFM3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AIFM3

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for AIFM3
    Browse ESI BIO Cell Lines and PureStem Progenitors for AIFM3 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIFM3


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    AIFM3_HUMAN, Q96NN9: Mitochondrion. Note=Does not translocate to the nucleus upon induction of apoptosis
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    endoplasmic reticulum4
    cytosol3
    plasma membrane3
    extracellular2

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634NOT nucleus IDA15764604
    GO:0005737cytoplasm ----
    GO:0005739mitochondrion IDA15764604
    GO:0005743mitochondrial inner membrane IDA15764604
    GO:0005783endoplasmic reticulum IDA15764604

    Find genes that share ontologies with AIFM3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Pathway & Disease-focused RT2 Profiler PCR Array including AIFM3: 
              Apoptosis 384HT in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for AIFM3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for AIFM3 (Q96NN93 ENSP000003353694) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    KLHL12Q53G593I2D: score=1 
    MAGEA11P433643I2D: score=1 
    PRNPP041563I2D: score=1 
    CISD2ENSP000002739864STRING: ENSP00000273986
    EXOGENSP000002876754STRING: ENSP00000287675
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0045454cell redox homeostasis IEA--
    GO:0055114oxidation-reduction process ----
    GO:0097194execution phase of apoptosis IDA15764604

    Find genes that share ontologies with AIFM3           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for AIFM3

    1 HMDB Compound for AIFM3    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for AIFM3 gene (3 alternative transcripts): 
    NM_001018060.2  NM_001146288.1  NM_144704.2  

    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000399167(uc002ztk.2 uc002ztj.2) ENST00000399163 ENST00000417515
    ENST00000467926 ENST00000441376 ENST00000479523 ENST00000472575 ENST00000495869
    ENST00000434714 ENST00000426113 ENST00000468124 ENST00000484206 ENST00000405089(uc002ztl.2 uc011ahx.1)
    ENST00000496097 ENST00000465606 ENST00000483107 ENST00000486003 ENST00000335375

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat AIFM3 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate AIFM3:
    hsa-miR-922 hsa-miR-1271 hsa-miR-590-3p hsa-miR-96
    SwitchGear 3'UTR luciferase reporter plasmidAIFM3 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for AIFM3
    Predesigned siRNA for gene silencing in human, mouse, rat AIFM3
    Clone
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    OriGene clones in human, mouse for AIFM3 (see all 18)
    OriGene ORF clones in mouse, rat for AIFM3
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): AIFM3 (NM_144704)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for AIFM3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AIFM3
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for AIFM3
    OriGene qSTAR qPCR primer pairs in human, mouse for AIFM3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AIFM3
      QuantiTect SYBR Green Assays in human, mouse, rat AIFM3
      QuantiFast Probe-based Assays in human, mouse, rat AIFM3

    Selected AceView cDNA sequences (see all 206):

    BI759539 CR617219 BC026214 CB155418 AI492536 BU192087 BE673452 BM722768 
    BQ416972 CA489669 BP349858 BM773018 CR626811 BQ427630 CR601558 BM697448 
    NM_006767 AA715048 BM562907 CR456342 BF196818 BU734421 AL119038 CA454019 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for AIFM3 (see all 15)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6a · 6b · 6c ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^
    SP1:                                                              -     -     -     -     -                                                                     
    SP2:              -     -     -     -           -                 -     -     -     -     -                                                                     
    SP3:                                                                                                                                -                           
    SP4:                                            -                 -     -     -     -     -                                                                     
    SP5:                                                                                                                                                            

    ExUns: 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23
    SP1:                    -                                         -         
    SP2:                    -                                         -         
    SP3:                    -                                                   
    SP4:                                                                        
    SP5:                                                                        


    ECgene alternative splicing isoforms for AIFM3

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AIFM3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAGACATTA
    AIFM3 Expression
    About this image


    AIFM3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
    AIFM3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AIFM3 Protein Expression

    UniProtKB/Swiss-Prot: AIFM3_HUMAN, Q96NN9
    Tissue specificity: Ubiquitous. Expressed in bone marrow, cerebral cortex, liver, ovary, thymus, thyroid gland and
    tongue (at protein level)

        Pathway & Disease-focused RT2 Profiler PCR Array including AIFM3: 
              Apoptosis 384HT in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for AIFM3
    OriGene qSTAR qPCR primer pairs in human, mouse for AIFM3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat AIFM3
    QuantiTect SYBR Green Assays in human, mouse, rat AIFM3
    QuantiFast Probe-based Assays in human, mouse, rat AIFM3
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AIFM3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for AIFM3 gene from Selected species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aifm31 , 5 apoptosis-inducing factor, mitochondrion-associated more1, 5 87.96(n)1
    96.15(a)1
      16 (10.84 cM)5
    721681  NM_175178.31  NP_780387.21 
     174896115 
    chicken
    (Gallus gallus)
    Aves AIFM31 apoptosis-inducing factor, mitochondrion-associated, more 76.42(n)
    80.94(a)
      416999  XM_004934429.1  XP_004934486.1 
    lizard
    (Anolis carolinensis)
    Reptilia AIFM36
    apoptosis-inducing factor, mitochondrion-associate...
    67(a)
    1 ↔ 1
    GL343417.1(814741-829622)
    African clawed frog
    (Xenopus laevis)
    Amphibia nfrl-A2 neurula-specific ferredoxin reductase-like protein 73.75(n)    D86491.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BQ479502.12   -- 69.8(n)    BQ479502.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG107006
    CG41996
    --
    36(a)
    34(a)
    1 ↔ many
    1 ↔ many
    2L(19077276-19079028)
    X(1960468-1967511)
    worm
    (Caenorhabditis elegans)
    Secernentea F20D6.116
    Protein F20D6.11 (F20D6.11) mRNA, complete cds
    33(a)
    1 ↔ 1
    V(8196770-8199094) WBGene00017640
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MDAR61 MDAR6 39.92(n)
    28.02(a)
      842697  NM_105067.3  NP_564818.1 
    rice
    (Oryza sativa)
    Liliopsida Os08g01518001 Os08g0151800 40.78(n)
    29.97(a)
      4344670  NM_001067537.1  NP_001061002.1 


    ENSEMBL Gene Tree for AIFM3 (if available)
    TreeFam Gene Tree for AIFM3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AIFM3 gene
    AIFM12  

    Find genes that share paralogs with AIFM3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AIFM3 (see all 577)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs57615671,2
    C,F,A,H--4588615(+) CTGGGT/CTCCAA 2 -- us2k19Minor allele frequency- C:0.31WA NA CSA EA 368
    rs60050611,2
    C,F,A,H--4588822(+) GGAAGT/CGGGCA 2 -- us2k15Minor allele frequency- C:0.25NA WA CSA 8
    rs671559901,2
    C--4588826(+) GCGGGCAGGGC  
     TGAAC
    /-
    CAGGG
    2 -- us2k11Minor allele frequency- -:0.50CSA 2
    rs57615691,2
    C,F,A,H--4588867(+) GGGACT/AGCCTA 2 -- us2k19Minor allele frequency- A:0.32WA NA CSA EA 368
    rs1926719771,2
    --4588890(+) GGGGCA/TGGTGG 2 -- us2k10--------
    rs119129741,2
    C,H--4588901(+) GGCAGA/GTGGCA 2 -- us2k10--------
    rs57615701,2
    C,F,A,H--4588958(+) AAGGCG/ACGCCC 2 -- us2k111Minor allele frequency- A:0.31MN EA WA NA CSA 1620
    rs57615711,2
    C,A,H--4589000(+) TGTAAT/CGGGCA 2 -- us2k16Minor allele frequency- C:0.27NA WA EA 542
    rs1169629941,2
    --4589212(+) GTGGGG/TAGGTC 2 -- us2k11Minor allele frequency- T:0.01EA 120
    rs175552581,2
    C,F--4589241(+) TTATGC/GCTGTG 2 -- us2k14Minor allele frequency- G:0.05MN EA NA 1492

    HapMap Linkage Disequilibrium report for AIFM3 (21319396 - 21335649 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for AIFM3 (see all 18):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2678175CNV Deletion23128226
    nsv436864CNV Insertion17901297
    nsv914425CNV Loss21882294
    dgv4873n71CNV Loss21882294
    nsv834141CNV Loss17160897
    nsv520145CNV Loss19592680
    nsv523162CNV Loss19592680
    nsv828960CNV Loss20364138
    dgv4872n71CNV Loss21882294
    nsv914424CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    Find genes that share disorders with AIFM3           About GenesLikeMe

    Genetic Association Database (GAD): AIFM3
    Human Genome Epidemiology (HuGE) Navigator: AIFM3 (1 document)

    Export disorders for AIFM3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AIFM3 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with AIFM3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and characterization of a human AIF-like gene with ability to induce apoptosis. (PubMed id 15764604)1, 2, 3, 9 Xie Q.... Bonanno J.A. (J. Biol. Chem. 2005)
    2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    5. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    6. Downregulation of miR-210 expression inhibits proliferation, induces apoptosis and enhances radiosensitivity in hypoxic human hepatoma cells in vitro. (PubMed id 22387901)1 Yang W....Zhu W. (Exp. Cell Res. 2012)
    7. [Expression of AIF and CGRP markers in pineal gland and thymus during aging]. (PubMed id 22550867)1 Lin'kova N.S....Khavinson V.K.h. (Adv Gerontol 2011)
    8. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (J. Biol. Chem. 2011)
    9. Protein microarray analysis identifies human cellular prion protein interactors. (PubMed id 18482256)1 Satoh J....Tabunoki H. (Neuropathol. Appl. Neurobiol. 2009)
    10. H. pylori-induced apoptosis in human gastric cancer cells mediated via the release of apoptosis-inducing factor from mitochondria. (PubMed id 19166416)1 Ashktorab H....Smoot D.T. (Helicobacter 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 150209 HGNC: 26398 AceView: LZTR1andFLJ30473 Ensembl:ENSG00000183773 euGenes: HUgn150209
    ECgene: AIFM3 H-InvDB: AIFM3

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for AIFM3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for AIFM3 gene:
    Search GeneIP for patents involving AIFM3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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