AIM2
Chr 1absent in melanoma 2
Also known as: PYHIN4
AIM2 is a member of the IFI20X /IFI16 family. It plays a putative role in tumorigenic reversion and may control cell proliferation. Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene — mechanism propensity
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
53 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 0 | 0 | 0 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 36 | 0 | 0 | 36 |
Likely Benign | 0 | 5 | 0 | 0 | 5 |
Benign | 1 | 0 | 1 | 3 | 5 |
Conflicting | — | 1 | |||
| Total | 1 | 41 | 1 | 3 | 47 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →9 pathogenic / likely-pathogenic (of 13) ClinVar copy-number / structural variants overlap AIM2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →
Protein Context — Lollipop Plot
AIM2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
SNAPS Breast Cancer Patient Study Breast Cancer Patients
NOT YET RECRUITINGEffects of TNF Blockade on Human BPH/LUTS
RECRUITINGThe PRO-FUTURE Project
RECRUITINGIn Vitro Fertilization (IVF) and Prenatal Effects Independent of Genetics
RECRUITINGPsyllium in Pediatric IBS
RECRUITINGTHC Titration of High-Potency Cannabis Concentrates
RECRUITINGSubclinical Transthyretin Cardiac Amyloidosis in V122I TTR Carriers
RECRUITINGAntibody-mediated LGI1 Encephalitis: Symptoms, Biomarkers, and Mechanisms of the Chronic Phase of the Disease
RECRUITINGProtective Effects of the Nutritional Supplement Sulforaphane on Doxorubicin-Associated Cardiac Dysfunction
RECRUITINGOutreach Core Activities
RECRUITINGSimultaneous Multinuclear Metabolic MRI in Newly Diagnosed or Recurrent Glioma
ACTIVE NOT RECRUITINGGenetic Testing of CYP2C19 in Prognostic Evaluation of Long-Term Major Adverse Cardiac and Vascular Events
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools