APOA2

Chr 1ARAD

apolipoprotein A2

Also known as: APOA2D, Apo-AII, ApoA-II, apoAII

NCBI Gene: 336ENSG00000158874UniProt: P02652OMIM: 107670

This gene encodes apolipoprotein (apo-) A-II, which is the second most abundant protein of the high density lipoprotein particles. The protein is found in plasma as a monomer, homodimer, or heterodimer with apolipoprotein D. Defects in this gene may result in apolipoprotein A-II deficiency or hypercholesterolemia. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

[?Apolipoprotein A-II deficiency]MIM #621417
AR
{Hypercholesterolemia, familial, modifier of}MIM #143890
ADAR
1
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.72
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.72LOEUF
pLI 0.045
Z-score 0.57
OE 0.65 (0.26–1.72)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.31Z-score
OE missense 0.88 (0.69–1.12)
46 obs / 52.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.26–1.72)
0≤0.351.4
Missense OE?0.88 (0.69–1.12)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 2 / 3.1Missense obs/exp: 46 / 52.4Syn Z: 0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

APOA2 · 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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients