The LCN2 protein regulates cellular iron trafficking by binding iron through association with siderophores and either delivering iron to cells or removing it depending on the iron-bound state, and also functions in innate immunity by sequestering iron from bacterial siderophores. Mutations cause autosomal recessive intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism. This gene shows no constraint against loss-of-function variants in the general population.

OMIMResearchSummary from UniProt
DNmechanismLOEUF 1.72
Clinical SummaryLCN2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
8 active or recruiting trials — potential therapeutic options may be available
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.72LOEUF
pLI 0.000
Z-score -0.35
OE 1.11 (0.721.72)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.43Z-score
OE missense 1.12 (0.961.30)
122 obs / 109.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.11 (0.721.72)
00.351.4
Missense OE1.12 (0.961.30)
00.61.4
Synonymous OE0.83
01.21.6
LoF obs/exp: 13 / 11.7Missense obs/exp: 122 / 109.3Syn Z: 0.96
DN
0.6552th %ile
GOF
0.5955th %ile
LOF
0.2582th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LCN2 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Sports NutritionBiochemical MarkersExercise Performance

Effect of a Short-term Multi-strain Probiotic Supplementation in Endurance Athletes

RECRUITING
NCT07252778Phase PHASE2, PHASE3Krzysztof Durkalec-MichalskiStarted 2025-11-20
MPRO supplementationPlacebo treatment
Malignant NeoplasmOrgan Damage

Construction and Evaluation of Tumor Immunotherapy and Organ Damage Early Warning System Based on Multi-omics

RECRUITING
NCT07131007Hebei Medical University Fourth HospitalStarted 2025-09-15
Immunotherapy Monitoring and Sample Collection
Polycystic Ovary SyndromeHypothalamic Amenorrhea

Body Fat as Determinant of Female Gonadal Dysfunction

RECRUITING
NCT03841981Fundacion para la Investigacion Biomedica del Hospital Universitario Ramon y CajalStarted 2020-01-31
Anthropometric and physical examinationIndirect calorimetry, accelerometer and seven-day dietary recallBiochemical, hormonal and metabolic phenotyping
AthletesIronEndurance Performance

Oslo Footballplayers Iron Supplementation and Training (FIT) Study

ACTIVE NOT RECRUITING
NCT04526678Phase NANorwegian University of Life SciencesStarted 2020-08-11
Iron supplement (27mg)
Urinary Tract Infections

DIagnoSing Care hOme UTI Study

RECRUITING
NCT05880329University of SouthamptonStarted 2023-09-01
Candidate POCTs for detecting UTI
Spinal StenosisLigamentum Flavum Hypertrophy

Cytokines, Neuroplasticity Modulators, and Biomarkers in Spinal Canal Stenosis and Endoscopic Decompression

NOT YET RECRUITING
NCT07232836Phase NAPoznan University of Physical EducationStarted 2025-11-17
Endoscopic Spinal Canal Decompression
Malnutrition (Calorie)Infant Nutrition DisorderGrowth Flatering

Goat Milk-Derived Formula vs. Undiluted Goat Milk in Infants Unable to Exclusively Breastfeed: Growth and Biomarker Analysis

RECRUITING
NCT07225153Phase NAAga Khan UniversityStarted 2025-08-30
GMDFAUndiluted Goat Milk
Hypertension, Resistant to Conventional Therapy

Antihypertensive Mechanisms of Minocycline in Resistant Hypertension

RECRUITING
NCT06246396Phase PHASE4University of FloridaStarted 2025-01-08
Minocycline HydrochloridePlacebo
Clinical Literature
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