ANGPTL3

Chr 1AR

angiopoietin like 3

Also known as: ANG-5, ANGPT5, ANL3, FHBL2

This gene encodes a member of a family of secreted proteins that function in angiogenesis. The encoded protein, which is expressed predominantly in the liver, is further processed into an N-terminal coiled-coil domain-containing chain and a C-terminal fibrinogen chain. The N-terminal chain is important for lipid metabolism, while the C-terminal chain may be involved in angiogenesis. Mutations in this gene cause familial hypobetalipoproteinemia type 2. [provided by RefSeq, Aug 2015]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hypobetalipoproteinemia, familial, 2MIM #605019
AR

Clinical highlights

Gene-disease validity (ClinGen)
familial hypobetalipoproteinemia 2 · ARDefinitivesufficient evidence for diagnostic panels
12
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.30
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — ANGPTL3
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score 0.43
OE 0.90 (0.641.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.09Z-score
OE missense 1.02 (0.911.13)
232 obs / 228.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.90 (0.641.30)
00.351.4
Missense OE?1.02 (0.911.13)
00.61.4
Synonymous OE?1.09
01.21.6
LoF obs/exp: 21 / 23.2Missense obs/exp: 232 / 228.0Syn Z: -0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ANGPTL3 · 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

Homozygous Familial Hypercholesterolemia (HoFH)

A Phase 3 Clinical Trial to Evaluate the Efficacy and Safety of VSA003 in Chinese HoFH Patients

ACTIVE NOT RECRUITING
NCT06712771Phase PHASE3Visirna Therapeutics HK LimitedStarted 2024-11-27
VSA003Placebo
HypercholesterolemiaHypertriglyceridemiaRefractory Hyperlipidemia

Phase 1b Study of VERVE-201 in Patients With Refractory Hyperlipidemia

RECRUITING
NCT06451770Phase PHASE1Verve Therapeutics, Inc.Started 2024-10-30
VERVE-201
Mixed Dyslipidemia

Phase 2 Dose-Finding Study Evaluating the Efficacy and Safety of EDP167 in Adults With Mixed Dyslipidemia

NOT YET RECRUITING
NCT07799129Phase PHASE2Eddingpharm (Zhuhai) Co., Ltd.Started 2026-11
EDP167 100mgEDP167 200mgEDP167 300mg
Severe Hypertriglyceridemia

A Study of Solbinsiran (LY3561774) in Participants With Severe Hypertriglyceridemia

RECRUITING
NCT07269210Phase PHASE2Eli Lilly and CompanyStarted 2025-12-08
SolbinsiranPlacebo
Healthy Volunteers

Phase 1 Clinical Study of MWX203 Injection in Healthy Subjects

ACTIVE NOT RECRUITING
NCT07799025Phase PHASE1Shanghai Minwei Biotechnology Co., LtdStarted 2025-07-07
MWX203 S1PlaceboMWX203 S2
Homozygous Familial Hypercholesterolemia (HoFH)

A Dose-exploration Study of EDP167 in HoFH

RECRUITING
NCT07489209Phase PHASE2Eddingpharm (Zhuhai) Co., Ltd.Started 2026-02-06
EDP167
Homozygous Familial Hypercholesterolemia

A Phase 3 Study of Zodasiran in Adolescent and Adult Subjects With Homozygous Familial Hypercholesterolemia (YOSEMITE)

ACTIVE NOT RECRUITING
NCT07037771Phase PHASE3Arrowhead PharmaceuticalsStarted 2025-06-17
zodasiran InjectionPlacebo
Healthy Volunteers With Hyperlipidemia

A First In Human (FIH) Study to Learn if Different Doses of ALN-ANG3 Are Safe and Well Tolerated in Healthy Adults

ACTIVE NOT RECRUITING
NCT06452771Phase PHASE1Regeneron PharmaceuticalsStarted 2024-06-27
ALN-ANG3Placebo (PB)
CardiovascularMetabolic DiseaseDyslipidemias

A Safety and Tolerability Trial Evaluating CTX310 in Participants With Refractory Dyslipidemias

RECRUITING
NCT07491172Phase PHASE1CRISPR Therapeutics AGStarted 2024-06-21
CTX310
Homozygous Familial Hypercholesterolemia (HoFH)Coronary Computed Tomography Angiography

Assessing the Impact of Intensification of Lipid Lowering Therapy With Guidelines-based Evinacumab Administration on Coronary Plaque Volumes Measured by Coronary Computed Tomography Angiography (CCTA) in Patients With Homozygous Familial Hypercholesterolemia (HoFH)

RECRUITING
NCT07447648Fondazione SISA (Societa Italiana per lo Studio della Arteriosclerosi)Started 2026-04-30
Hypocholesterolemia

Physiological Effects of ANGPTL3 Variants in Humans

RECRUITING
NCT04234724Phase NAUniversity of PennsylvaniaStarted 2020-12-01
Kinetics test, oral fat tolerance test, and an oral glucose tolerance test.
Diabetic Kidney Disease (DKD)

Study to Assess the Effects of ALN-ANG3 in Adult Participants With Diabetic Kidney Disease

RECRUITING
NCT07271186Phase PHASE2Regeneron PharmaceuticalsStarted 2026-01-09
ALN-ANG3EvinacumabPlacebo