Gene Gene information from NCBI Gene database.
Entrez ID 150209
Gene name AIF family member 3
Gene symbol AIFM3
Synonyms (NCBI Gene)
AIFL
Chromosome 22
Chromosome location 22q11.21
miRNA miRNA information provided by mirtarbase database.
29
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 QRTPCRWestern blot 23618526
MIRT006326 hsa-miR-210-3p Western blottingqRT-PCRFlow cytometry 31974607
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
617298 26398 ENSG00000183773
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 605
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ovarian serous cystadenocarcinoma Uncertain significance rs374823610 RCV005937506
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 31088422
Cakut Associate 34502088
Cholangiocarcinoma Associate 27473083, 34949658
Cholangiocarcinoma Stimulate 32664187
DiGeorge Syndrome Associate 33638978
Hereditary renal agenesis Associate 33824538
Lymphatic Metastasis Associate 31088422, 32664187
Lymphatic Metastasis Stimulate 34949658
Neoplasm Metastasis Associate 34949658
Neoplasms Associate 31088422, 32664187, 34949658