Aliases for AIFM3 Gene

Aliases for AIFM3 Gene

  • Apoptosis Inducing Factor Mitochondria Associated 3 2 3 5
  • Apoptosis-Inducing Factor, Mitochondrion-Associated, 3 2 3
  • Apoptosis-Inducing Factor 3 3 4
  • AIFL 3 4
  • Apoptosis-Inducing Factor-Like Protein 4
  • Apoptosis-Inducing Factor Like 3
  • EC 1.-.-.- 4

External Ids for AIFM3 Gene

Previous GeneCards Identifiers for AIFM3 Gene

  • GC22P019649
  • GC22P021321
  • GC22P004589
  • GC22P021322
  • GC22P021326
  • GC22P021355

Summaries for AIFM3 Gene

GeneCards Summary for AIFM3 Gene

AIFM3 (Apoptosis Inducing Factor Mitochondria Associated 3) is a Protein Coding gene. Diseases associated with AIFM3 include Chromosome 6Q24-Q25 Deletion Syndrome and Streptococcal Meningitis. Gene Ontology (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 Summary for AIFM3 Gene

  • Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential.

Additional gene information for AIFM3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AIFM3 Gene

Genomics for AIFM3 Gene

GeneHancer (GH) Regulatory Elements for AIFM3 Gene

Promoters and enhancers for AIFM3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AIFM3 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AIFM3

Top Transcription factor binding sites by QIAGEN in the AIFM3 gene promoter:
  • E47
  • Pax-4a
  • POU2F1
  • POU2F1a
  • POU2F1b

Genomic Locations for AIFM3 Gene

Genomic Locations for AIFM3 Gene
chr22:20,965,108-20,981,360
(GRCh38/hg38)
Size:
16,253 bases
Orientation:
Plus strand
chr22:21,319,396-21,335,649
(GRCh37/hg19)
Size:
16,254 bases
Orientation:
Plus strand

Genomic View for AIFM3 Gene

Genes around AIFM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AIFM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AIFM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AIFM3 Gene

Proteins for AIFM3 Gene

  • Protein details for AIFM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96NN9-AIFM3_HUMAN
    Recommended name:
    Apoptosis-inducing factor 3
    Protein Accession:
    Q96NN9
    Secondary Accessions:
    • B7WP37
    • D3DX37
    • D3DX38
    • Q6ZT44
    • Q8N1V3
    • Q8N5E0

    Protein attributes for AIFM3 Gene

    Size:
    605 amino acids
    Molecular mass:
    66791 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for AIFM3 Gene

    Alternative splice isoforms for AIFM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for AIFM3 Gene

Post-translational modifications for AIFM3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AIFM3 Gene

Domains & Families for AIFM3 Gene

Gene Families for AIFM3 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for AIFM3 Gene

Blocks:
  • Pyridine nucleotide-disulphide oxidoreductase, NAD-binding region
  • Rieske [2Fe-2S] domain
  • FAD-dependent pyridine nucleotide reductase signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AIFM3 Gene

GenScript: Design optimal peptide antigens:
  • Apoptosis-inducing factor-like protein (AIFM3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96NN9

UniProtKB/Swiss-Prot:

AIFM3_HUMAN :
  • The Rieske domain induces apoptosis.
  • Belongs to the FAD-dependent oxidoreductase family.
Domain:
  • The Rieske domain induces apoptosis.
Family:
  • Belongs to the FAD-dependent oxidoreductase family.
genes like me logo Genes that share domains with AIFM3: view

Function for AIFM3 Gene

Molecular function for AIFM3 Gene

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

Enzyme Numbers (IUBMB) for AIFM3 Gene

Phenotypes From GWAS Catalog for AIFM3 Gene

Gene Ontology (GO) - Molecular Function for AIFM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016491 oxidoreductase activity IEA --
GO:0046872 metal ion binding IEA --
GO:0050660 flavin adenine dinucleotide binding IEA --
GO:0051536 iron-sulfur cluster binding IEA --
GO:0051537 2 iron, 2 sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with AIFM3: view
genes like me logo Genes that share phenotypes with AIFM3: view

Animal Model Products

  • Taconic Biosciences Mouse Models for AIFM3

CRISPR Products

miRNA for AIFM3 Gene

miRTarBase miRNAs that target AIFM3

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AIFM3

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AIFM3 Gene

Localization for AIFM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for AIFM3 Gene

Mitochondrion. Note=Does not translocate to the nucleus upon induction of apoptosis.

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 AIFM3 gene
Compartment Confidence
mitochondrion 4
endoplasmic reticulum 4
cytosol 4
plasma membrane 3
extracellular 2
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for AIFM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 NOT nucleus IDA 15764604
GO:0005739 mitochondrion IDA 15764604
GO:0005743 mitochondrial inner membrane IDA 15764604
GO:0005783 endoplasmic reticulum IDA 15764604
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with AIFM3: view

Pathways & Interactions for AIFM3 Gene

PathCards logo

SuperPathways for AIFM3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AIFM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0055114 oxidation-reduction process IEA --
GO:0097194 execution phase of apoptosis IDA 15764604
genes like me logo Genes that share ontologies with AIFM3: view

No data available for Pathways by source and SIGNOR curated interactions for AIFM3 Gene

Drugs & Compounds for AIFM3 Gene

(1) Drugs for AIFM3 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 AIFM3: view

Transcripts for AIFM3 Gene

mRNA/cDNA for AIFM3 Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AIFM3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for AIFM3 Gene

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:
SP6: - - - - - - - - -
SP7: - - - - - - -
SP8: - - - - - - - - -
SP9:
SP10: - -
SP11: - - - - - - - -
SP12: - - - - - - - -
SP13: - - - -
SP14: -
SP15: - - - - -

ExUns: 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23
SP1: - -
SP2: - -
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for AIFM3 Gene

GeneLoc Exon Structure for
AIFM3

Expression for AIFM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AIFM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AIFM3 Gene

This gene is overexpressed in Brain - Amygdala (x4.9), Colon - Transverse (x4.8), Brain - Caudate (basal ganglia) (x4.4), Brain - Cortex (x4.2), and Brain - Putamen (basal ganglia) (x4.2).

Protein differential expression in normal tissues from HIPED for AIFM3 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (39.1), Neutrophil (9.9), and Monocytes (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AIFM3 Gene



Protein tissue co-expression partners for AIFM3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AIFM3

SOURCE GeneReport for Unigene cluster for AIFM3 Gene:

Hs.723246

mRNA Expression by UniProt/SwissProt for AIFM3 Gene:

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

Evidence on tissue expression from TISSUES for AIFM3 Gene

  • Nervous system(4.9)
  • Pancreas(4)
genes like me logo Genes that share expression patterns with AIFM3: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for AIFM3 Gene

Orthologs for AIFM3 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for AIFM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AIFM3 31 30
  • 99.28 (n)
OneToOne
cow
(Bos Taurus)
Mammalia AIFM3 31 30
  • 90.13 (n)
OneToOne
dog
(Canis familiaris)
Mammalia AIFM3 31 30
  • 89.65 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Aifm3 30
  • 88.13 (n)
mouse
(Mus musculus)
Mammalia Aifm3 17 31 30
  • 87.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AIFM3 31
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves AIFM3 31 30
  • 76.42 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia AIFM3 31
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100493696 30
  • 69.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia nfrl-A 30
zebrafish
(Danio rerio)
Actinopterygii AIFM3 31
  • 67 (a)
OneToOne
LOC100150876 30
  • 66.27 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003904 30
  • 52.74 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10700 31
  • 36 (a)
OneToMany
CG4199 31
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F20D6.11 31
  • 33 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons MDAR6 30
  • 39.92 (n)
rice
(Oryza sativa)
Liliopsida Os08g0151800 30
  • 40.78 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU05850 30
  • 52.06 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes aif1 30
  • 46.5 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 44 (a)
OneToMany
-- 31
  • 44 (a)
OneToMany
Species where no ortholog for AIFM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for AIFM3 Gene

ENSEMBL:
Gene Tree for AIFM3 (if available)
TreeFam:
Gene Tree for AIFM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for AIFM3: view image

Paralogs for AIFM3 Gene

Paralogs for AIFM3 Gene

genes like me logo Genes that share paralogs with AIFM3: view

Variants for AIFM3 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AIFM3 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
rs61356271 - p.Ser508Thr

Additional dbSNP identifiers (rs#s) for AIFM3 Gene

Structural Variations from Database of Genomic Variants (DGV) for AIFM3 Gene

Variant ID Type Subtype PubMed ID
dgv4483n100 CNV gain 25217958
dgv7993n54 CNV gain 21841781
dgv7994n54 CNV gain 21841781
esv2678175 CNV deletion 23128226
esv2763693 CNV gain 21179565
esv3647304 CNV loss 21293372
esv3647305 CNV gain 21293372
esv3647306 CNV loss 21293372
esv3893441 CNV gain+loss 25118596
nsv1056614 CNV loss 25217958
nsv1062280 CNV gain 25217958
nsv1065617 CNV gain 25217958
nsv191576 CNV deletion 16902084
nsv436864 CNV insertion 17901297
nsv471185 CNV loss 18288195
nsv520145 CNV loss 19592680
nsv523162 CNV loss 19592680
nsv588305 CNV loss 21841781
nsv588306 CNV gain 21841781
nsv828960 CNV loss 20364138
nsv828961 CNV gain 20364138
nsv834141 CNV loss 17160897
nsv834142 CNV gain 17160897

Variation tolerance for AIFM3 Gene

Residual Variation Intolerance Score: 89.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.18; 61.81% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AIFM3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
AIFM3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AIFM3 Gene

Disorders for AIFM3 Gene

MalaCards: The human disease database

(3) MalaCards diseases for AIFM3 Gene - From: DISEASES

Disorder Aliases PubMed IDs
chromosome 6q24-q25 deletion syndrome
  • chromosome 6q25-q25 deletion syndrome
streptococcal meningitis
digeorge syndrome
  • cayler cardiofacial syndrome
- elite association - COSMIC cancer census association via MalaCards
Search AIFM3 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AIFM3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with AIFM3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AIFM3 Gene

Publications for AIFM3 Gene

  1. Molecular cloning and characterization of a human AIF-like gene with ability to induce apoptosis. (PMID: 15764604) Xie Q … Bonanno JA (The Journal of biological chemistry 2005) 2 3 4 23 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 54

Products for AIFM3 Gene

Sources for AIFM3 Gene