AIFM2

apoptosis inducing factor mitochondria associated 2

Basic information

Region (hg38): 10:70098223-70132934

Previous symbols: [ "AMID" ]

Links

ENSG00000042286

∙ NCBI:84883 ∙ OMIM:605159 ∙ HGNC:21411 ∙ Uniprot:Q9BRQ8 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AIFM2 gene.

not_specified (54 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AIFM2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000032797.6. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			54 clinvar			54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AIFM2	protein_coding	protein_coding	ENST00000307864	8	34712

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000111	0.822	125621	0	127	125748	0.000505

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.320	219	233	0.941	0.0000150	2405
Missense in Polyphen		51	64.542	0.79018		647
Synonymous	0.840	89	99.7	0.893	0.00000710	781
Loss of Function	1.32	10	15.7	0.639	8.08e-7	177

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00274	0.00268
Ashkenazi Jewish	0.00333	0.00318
East Asian	0.000277	0.000272
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.000240	0.000237
Middle Eastern	0.000277	0.000272
South Asian	0.000395	0.000392
Other	0.000522	0.000489

dbNSFP

Source: dbNSFP

Function: FUNCTION: Oxidoreductase, which may play a role in mediating a p53/TP53-dependent apoptosis response. Probable oxidoreductase that acts as a caspase-independent mitochondrial effector of apoptotic cell death. Binds to DNA in a sequence-independent manner. May contribute to genotoxin-induced growth arrest. {ECO:0000269|PubMed:11980907, ECO:0000269|PubMed:12135761, ECO:0000269|PubMed:15958387}.;
Pathway: Apoptosis Modulation and Signaling;TP53 Regulates Transcription of Cell Death Genes;Gene expression (Transcription);Generic Transcription Pathway;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;Transcriptional Regulation by TP53;Direct p53 effectors (Consensus)

Recessive Scores

pRec: 0.135

Intolerance Scores

loftool: 0.809
rvis_EVS: -0.4
rvis_percentile_EVS: 26.93

Haploinsufficiency Scores

pHI: 0.182
hipred: N
hipred_score: 0.282
ghis: 0.529

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.447

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Aifm2
Phenotype: cellular phenotype;

Gene ontology

Biological process: apoptotic mitochondrial changes;respiratory electron transport chain;regulation of apoptotic process;positive regulation of apoptotic process
Cellular component: extracellular space;cytoplasm;mitochondrion;mitochondrial outer membrane;lipid droplet;cytosol;integral component of membrane
Molecular function: DNA binding;electron-transferring-flavoprotein dehydrogenase activity;flavin adenine dinucleotide binding