AIFM2

Chr 10

AIF family member 2, ferroptosis suppressor

Also known as: AMID, FSP1, PRG3

This gene encodes a flavoprotein oxidoreductase that binds single stranded DNA and is thought to contribute to apoptosis in the presence of bacterial and viral DNA. The expression of this gene is also found to be induced by tumor suppressor protein p53 in colon cancer cells. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…
0
Active trials
28
Pubs (1 yr)
P/LP submissions
P/LP missense
1.08
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.08LOEUF
pLI 0.000
Z-score 1.32
OE 0.64 (0.391.08)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.32Z-score
OE missense 0.94 (0.841.05)
219 obs / 232.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.391.08)
00.351.4
Missense OE?0.94 (0.841.05)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 10 / 15.7Missense obs/exp: 219 / 232.8Syn Z: 0.84

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

AIFM2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →