AIFM2

apoptosis inducing factor mitochondria associated 2

Basic information

Region (hg38): 10:70098223-70132934

Previous symbols: [ "AMID" ]

Links

ENSG00000042286NCBI:84883OMIM:605159HGNC:21411Uniprot:Q9BRQ8AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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.

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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
26
clinvar
26
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
3
clinvar
2
clinvar
5
Total 0 0 29 0 2

Variants in AIFM2

This is a list of pathogenic ClinVar variants found in the AIFM2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
10-70100291-G-A not specified Uncertain significance (Oct 26, 2021)3121943
10-70109034-C-T Benign (Jul 13, 2018)780867
10-70109038-G-A not specified Uncertain significance (Jun 11, 2021)3121944
10-70109173-A-C not specified Uncertain significance (Mar 26, 2024)3292518
10-70111541-C-T not specified Uncertain significance (May 11, 2022)3121945
10-70111587-G-A Benign (Jul 13, 2018)747362
10-70114212-G-A not specified Uncertain significance (Nov 07, 2023)3102582
10-70114231-G-A not specified Uncertain significance (Nov 17, 2023)3102578
10-70114257-C-T not specified Uncertain significance (Aug 30, 2022)2216277
10-70114258-G-A not specified Uncertain significance (Jan 31, 2024)3102572
10-70114327-C-T not specified Uncertain significance (Apr 01, 2024)3278972
10-70114329-C-T not specified Uncertain significance (Mar 11, 2024)2398448
10-70114922-G-A not specified Uncertain significance (Dec 16, 2023)3102647
10-70114941-G-C not specified Uncertain significance (Dec 01, 2022)2331450
10-70114943-C-T not specified Uncertain significance (Mar 28, 2024)3278924
10-70114970-G-A not specified Uncertain significance (Dec 19, 2022)2400417
10-70114977-C-T not specified Uncertain significance (Jul 05, 2023)2600192
10-70115025-C-T not specified Uncertain significance (Feb 17, 2023)2466335
10-70115078-T-G not specified Uncertain significance (Mar 29, 2024)3278962
10-70116633-C-T not specified Uncertain significance (May 02, 2023)2521827
10-70116729-C-T not specified Uncertain significance (Aug 05, 2022)2371701
10-70117827-C-T not specified Uncertain significance (May 14, 2024)3278951
10-70117862-C-T not specified Uncertain significance (Feb 21, 2024)3102630
10-70117863-G-A not specified Uncertain significance (Sep 12, 2022)2351407
10-70117866-C-T not specified Uncertain significance (Jan 23, 2023)2466969

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
AIFM2protein_codingprotein_codingENST00000307864 834712
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00001110.82212562101271257480.000505
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3202192330.9410.00001502405
Missense in Polyphen5164.5420.79018647
Synonymous0.8408999.70.8930.00000710781
Loss of Function1.321015.70.6398.08e-7177

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002740.00268
Ashkenazi Jewish0.003330.00318
East Asian0.0002770.000272
Finnish0.00004640.0000462
European (Non-Finnish)0.0002400.000237
Middle Eastern0.0002770.000272
South Asian0.0003950.000392
Other0.0005220.000489

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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