Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	150209
Gene name Gene Name - the full gene name approved by the HGNC.	AIF family member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	AIFM3
Synonyms (NCBI Gene) Gene synonyms aliases	AIFL
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q11.21

Show/Hide all(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	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

Show/Hide all(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
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

MIM	HGNC	e!Ensembl
617298	26398	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

Interactions

View interactions

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Keratoconus	Keratoconus	N/A	N/A	GWAS
Testicular Germ Cell Tumor	Testicular germ cell tumor	N/A	N/A	GWAS

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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
Urinary Bladder Neoplasms	Associate	30170380

AIFM3 (AIF family member 3)