AIFM3 (AIF family member 3)

Gene

• Entrez ID: 150209
• Gene name: AIF family member 3
• Gene symbol: AIFM3
• Synonyms (NCBI Gene): AIFL
• Chromosome: 22
• Chromosome location: 22q11.21

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006326	hsa-miR-210-3p	Luciferase reporter assay	22387901
MIRT006326	hsa-miR-210-3p	Luciferase reporter assay	22387901
MIRT006326	hsa-miR-210-3p	Luciferase reporter assay	22387901
MIRT006326	hsa-miR-210-3p	QRTPCR, Western blot	23618526
MIRT006326	hsa-miR-210-3p	Western blotting, qRT-PCR, Flow cytometry	31974607
MIRT774397	hsa-miR-1207-5p	CLIP-seq
MIRT774398	hsa-miR-1253	CLIP-seq
MIRT774399	hsa-miR-1827	CLIP-seq
MIRT774400	hsa-miR-4419a	CLIP-seq
MIRT774401	hsa-miR-4434	CLIP-seq
MIRT774402	hsa-miR-4510	CLIP-seq
MIRT774403	hsa-miR-4516	CLIP-seq
MIRT774404	hsa-miR-4763-3p	CLIP-seq
MIRT774405	hsa-miR-940	CLIP-seq
MIRT774406	hsa-miR-1299	CLIP-seq
MIRT774407	hsa-miR-1909	CLIP-seq
MIRT774408	hsa-miR-296-3p	CLIP-seq
MIRT774409	hsa-miR-3127-5p	CLIP-seq
MIRT774410	hsa-miR-3144-5p	CLIP-seq
MIRT774411	hsa-miR-3182	CLIP-seq
MIRT774412	hsa-miR-4684-3p	CLIP-seq
MIRT774413	hsa-miR-4782-5p	CLIP-seq
MIRT774414	hsa-miR-516b	CLIP-seq
MIRT774415	hsa-miR-1245b-5p	CLIP-seq
MIRT774416	hsa-miR-2467-3p	CLIP-seq
MIRT774417	hsa-miR-3142	CLIP-seq
MIRT774418	hsa-miR-4697-3p	CLIP-seq
MIRT774419	hsa-miR-885-3p	CLIP-seq
MIRT774420	hsa-miR-922	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005634	Component	Nucleus	IDA	15764604
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	15764604
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	15764604
GO:0005783	Component	Endoplasmic reticulum	IDA	15764604
GO:0005829	Component	Cytosol	IDA
GO:0006915	Process	Apoptotic process	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016651	Function	Oxidoreductase activity, acting on NAD(P)H	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051537	Function	2 iron, 2 sulfur cluster binding	IEA
GO:0097194	Process	Execution phase of apoptosis	IBA
GO:0097194	Process	Execution phase of apoptosis	IDA	15764604

Other IDs

• MIM: 617298
• HGNC: 26398
• e!Ensembl: ENSG00000183773

Protein

• UniProt ID: Q96NN9
• Protein name: Apoptosis-inducing factor 3 (EC 1.-.-.-) (Apoptosis-inducing factor-like protein)
• Protein function: Induces apoptosis through a caspase dependent pathway. Reduces mitochondrial membrane potential.
• PDB: 5O9V, 6QRM, 6SJZ, 6SK3, 6SK8, 6SKJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00355	Rieske	68 → 155	Rieske [2Fe-2S] domain	Domain
  PF07992	Pyr_redox_2	195 → 493	Pyridine nucleotide-disulphide oxidoreductase	Domain
  PF14759	Reductase_C	512 → 586	Reductase C-terminal	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Expressed in bone marrow, cerebral cortex, liver, ovary, thymus, thyroid gland and tongue (at protein level). {ECO:0000269|PubMed:15764604}.
• Sequence:

  MGGCFSKPKPVELKIEVVLPEKERGKEELSASGKGSPRAYQGNGTARHFHTEERLSTPHP
  YPSPQDCVEAAVCHVKDLENGQMREVELGWGKVLLVKDNGEFHALGHKCPHYGAPLVKGV
  LSRGRVRCPWHGACFNISTGDLEDFPGLDSLHKFQVKIEKEKVYVRASKQALQLQRRTKV
  MAKCISPSAGYSSSTNVLIVGAGAAGLVCAETLRQEGFSDRIVLCTLDRHLPYDRPKLSK
  SLDTQPEQLALRPKEFFRAYGIEVLTEAQVVTVDVRTKKVVFKDGFKLEYSKLLLAPGSS
  PKTLSCKGKEVENVFTIRTPEDANRVVRLARGRNVVVVGAGFLGMEVAAYLTEKAHSVSV
  VELEETPFRRFLGERVGRALMKMFENNRVKFYMQTEVSELRGQEGKLKEVVLKSSKVVRA
  DVCVVGIGAVPATGFLRQSGIGLDSRGFIPVNKMMQTNVPGVFAAGDAVTFPLAWRNNRK
  VNIPHWQMAHAQGRVAAQNMLAQEAEMSTVPYLWTAMFGKSLRYAGYGEGFDDVIIQGDL
  EELKFVAFYTKGDEVIAVASMNYDPIVSKVAEVLASGRAIRKREVELFVLHSKTGDMSWL
  TGKGS

• Sequence length: 605

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	31088422		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31088422	Associate	★☆☆☆☆ Found in Text Mining only
Cakut	Congenital anomalies of the kidney and urinary tract	Pubtator	34502088	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	27473083, 34949658	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	32664187	Stimulate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	16001080		★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	33638978	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31088422, 32664187	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	34949658	Stimulate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	31088422		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31088422		★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASCAT_DG	28604728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	30170380	Associate	★☆☆☆☆ Found in Text Mining only