AGA

Chr 4AR

aspartylglucosaminidase

ENSG00000038002UniProt: P20933

Cleaves the GlcNAc-Asn bond which joins oligosaccharides to the peptide of asparagine-linked glycoproteins

Primary Disease Associations & Inheritance

AspartylglucosaminuriaMIM #208400
AR
0
ClinVar variants
0
Pathogenic / LP
0.00
pLI score
9
Active trials
Clinical Summary— AGA
🧬
Gene-Disease Validity (ClinGen)
aspartylglucosaminuria · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.04LOEUF
pLI 0.000
Z-score 1.43
OE 0.63 (0.40–1.04)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.45Z-score
OE missense 1.09 (0.97–1.22)
214 obs / 196.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.63 (0.40–1.04)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.09 (0.97–1.22)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.92
0≤1.21.6
LoF obs/exp: 11 / 17.4Missense obs/exp: 214 / 196.4Syn Z: 0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

AGA · protein map & ClinVar variants

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

Gene2Phenotype Curations

AGA-related aspartylglucosaminuria

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersSkinSkeletal
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Aspartylglucosaminuria

MIM #208400

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Venezuelan Equine EncephalitisVenezuelan Equine Encephalitis Virus Infection

A Phase 1 Study Evaluating the Safety, Tolerability, and Immunogenicity of V4020 Vaccine in Healthy Volunteers

NOT YET RECRUITING
NCT07088822Phase PHASE1Medigen, Inc.Started 2025-08-15
V4020
Recurrent Lung Non-Small Cell CarcinomaStage IV Lung Cancer AJCC v8

Treatment for Advanced Non-small Cell Lung Cancer With Actionable Genomic Alterations After Targeted Treatment and Chemotherapy (An Expanded Lung-MAP Treatment Trial)

NOT YET RECRUITING
NCT07393555Phase PHASE2SWOG Cancer Research NetworkStarted 2026-08-07
Biospecimen CollectionComputed TomographyIvonescimab
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
Fabry Disease

Evaluate the Safety and Preliminary Efficacy of EXG110 in Subjects With Fabry Disease

RECRUITING
NCT06539624Phase NAThe Children's Hospital of Zhejiang University School of MedicineStarted 2024-10-16
EXG110 injection
Pregnancy RelatedPregnancy LossPregnancy Complications

Microbiome and Malnutrition in Pregnancy

RECRUITING
NCT04992104The Hospital for Sick ChildrenStarted 2023-02-22
Lung Adenocarcinoma

PHOENIX: QL1706 Plus Chemotherapy and Bevacizumab in AGA-Resistant, PD-L1 ≥50% Non-Squamous NSCLC

NOT YET RECRUITING
NCT07416058Phase PHASE2Guangdong Association of Clinical TrialsStarted 2026-01-31
QL1706 (bispecific antibody targeting PD-1 and CLTA-4)
Non-Small Cell Lung Cancer

Study of MCLA-129 in the Treatment of Advanced Non-small Cell Lung Cancer with AGA and MET Amplification.

NOT YET RECRUITING
NCT06885840Phase PHASE2Betta Pharmaceuticals Co., Ltd.Started 2025-03-31
MCLA-129
Environmental Enteric Dysfunction (EED)Stunting

Maternal Probiotic Intervention to Improve Gut Health-Trial II-Pakistan

RECRUITING
NCT07207434Phase PHASE2Aga Khan UniversityStarted 2025-08-30
Oral VancomycinVE818Placebo
Fabry Disease

An Open-label, Phase 1/2 Trial of Gene Therapy 4D-310 in Adults With Fabry Disease

ACTIVE NOT RECRUITING
NCT04519749Phase PHASE1, PHASE24D Molecular TherapeuticsStarted 2020-09-01
4D-310

External Resources

Links to major genomics databases and tools