APOA2

Chr 1ARAD

apolipoprotein A2

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

NCBI Gene: 336 ENSG00000158874 UniProt: P02652 OMIM: 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]

OMIM Research

OMIM ResearchGenerating clinical summary…

AR/ADLOEUF 1.722 OMIM phenotypes

Clinical Summary— APOA2

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Population Constraint (gnomAD)

Low constraint (pLI 0.04) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

3 unique Pathogenic / Likely Pathogenic· 15 VUS of 36 total submissions

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

Explore recent and relevant literature in Research Assistant →

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

36 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

Likely Pathogenic2

VUS15

Likely Benign5

Benign11

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	1	0	0	0	1
Likely Pathogenic	2	0	0	0	2
VUS	0	10	4	1	15
Likely Benign	0	0	5	0	5
Benign	0	0	9	2	11
Total	3	10	18	3	34

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

12 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap APOA2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →