GD3

Chr XAR

Graves disease, susceptibility to, X-linked

Also known as: GD3

NCBI Gene: 117189

Primary Disease Associations & Inheritance

Gaucher disease, type IIIMIM #231000
AR
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
1
Active trials
Clinical Summary— GD3
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/GD3?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GD3 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Gaucher disease, type III

MIM #231000

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — GD3
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.
Daykin EC et al.·Mol Genet Metab
2021Review
Transition to a mesenchymal state in neuroblastoma confers resistance to anti-GD2 antibody via reduced expression of ST8SIA1.
Mabe NW et al.·Nat Cancer
2022
Cellular MR imaging.
Modo M et al.·Mol Imaging
2005Review
Natural Antibodies Against Sialoglycans.
Shilova N et al.·Top Curr Chem
2015Review
Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review.
den Hollander B et al.·Mol Genet Metab
2024Review
Mechanisms of fenretinide-induced apoptosis.
Hail N Jr et al.·Apoptosis
2006Review
Ganglioside Profiling Uncovers Distinct Patterns in High-Risk Neuroblastoma.
Paret C et al.·Int J Mol Sci
2025
Ganglioside GD2: a novel therapeutic target in triple-negative breast cancer.
Shao C et al.·Ann N Y Acad Sci
2022Review
GD2 in Breast Cancer: A Potential Biomarker and Therapeutic Target.
Mokbel K·Cancer Genomics Proteomics
2024Review
EDF1 accelerates ganglioside GD3 accumulation to boost CD52-mediated CD8(+) T cell dysfunction in neuroblastoma.
Li D et al.·J Exp Clin Cancer Res
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
GM1 and GD3 Gangliosides Attenuate Diisopropylfluorophosphate-Induced NGF-TrkA and BDNF-TrkB Signaling Dysfunction.
Itokazu Y et al.·ACS Chem Neurosci
2026🔓 Open Access
Reactivity of the Asymmetric Wells-Dawson Ion: Lanthanide-Containing 34-Tungsto-2-Phosphates [Ln(P(H4)W17O61)2]19- (Ln = La3+, Ce3+, Eu3+, Gd3+, Yb3+, Lu3+, Y3+).
Elcheikh Mahmoud M et al.·Inorg Chem
2026🔓 Open Access
Gd3+ engineered Co-Mn-Mg spinel nanoferrites for multifunctional theranostics: magnetic hyperthermia, antioxidant hepatoprotection, and antibacterial activity.
Elansary M et al.·RSC Adv
2025🔓 Open AccessFunctional
Dynamic tracking of GD3 to GD2 gangliosides in T lymphoblasts via nuclear magnetic resonance spectroscopy.
Salinas-Marín R et al.·Glycobiology
2025
Chemoenzymatically Synthesized O-Acetylated GD3 Gangliosides to Examine Viral Receptor Specificities in a Cellular Context.
Zhang Z et al.·Angew Chem Int Ed Engl
2026🔓 Open Access
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Neuroblastoma

Bivalent Vaccine With Escalating Doses of the Immunological Adjuvant OPT-821, in Combination With Oral β-glucan for High-Risk Neuroblastoma

ACTIVE NOT RECRUITING
NCT00911560Phase PHASE1, PHASE2Memorial Sloan Kettering Cancer CenterStarted 2009-05-27
adjuvant OPT-821 in a vaccine containing two antigens (GD2L and GD3L) covalently linked to KLHoral β-glucan

External Resources

Links to major genomics databases and tools