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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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LAGE3
L antigen family member 3
Chromosome X · Xq28
NCBI Gene: 8270Ensembl: ENSG00000196976.8HGNC: HGNC:26058UniProt: Q14657
49PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmnuclear bodyEKC/KEOPS complexGalloway-Mowat syndrome 2, X-linkedneurodegenerative diseaseGalloway-Mowat syndromelysosomal storage disease
✦AI Summary

LAGE3 is a component of the EKC/KEOPS complex required for t(6)A37 tRNA modification, functioning as a dimerization module 12. The complex catalyzes transfer of a threonylcarbamoyl group to adenosine at position 37 in tRNAs reading adenine-starting codons, maintaining translational fidelity 12. Mutations in LAGE3 cause Galloway-Mowat syndrome 2 (X-linked), characterized by early-onset nephrotic syndrome and primary microcephaly 34. LAGE3 deficiency impairs protein translation, induces endoplasmic reticulum stress, and activates DNA-damage response and apoptosis pathways, with podocyte cytoskeletal defects contributing to kidney disease 3. Beyond monogenic disease, LAGE3 is significantly upregulated in multiple solid tumors including papillary thyroid cancer and hepatocellular carcinoma (HCC) 56. In HCC, high LAGE3 expression promotes proliferation, migration, and angiogenesis via PI3K/AKT/mTOR and Ras/RAF/MAPK pathways, correlating with poor prognosis 67. LAGE3 stabilizes VEGFA mRNA to enhance angiogenesis 8, and its knockdown reduces oncogenic phenotypes 5. This dual role—critical for tRNA modification in normal physiology but promoting malignancy when dysregulated—positions LAGE3 as both a monogenic disease gene and emerging therapeutic target.

Sources cited
1
LAGE3 is a component of EKC/KEOPS complex involved in t(6)A37 tRNA modification and functions as a dimerization module
PMID: 22912744
2
LAGE3 participates in threonylcarbamoyl group transfer to A37 on tRNAs
PMID: 27903914
3
LAGE3 mutations cause Galloway-Mowat syndrome with nephrotic syndrome and microcephaly; deficiency impairs translation and activates apoptosis
PMID: 28805828
4
LAGE3 is upregulated in papillary thyroid cancer and correlates with advanced malignancy; knockdown affects proliferation, migration, and invasion
PMID: 33310661
5
High LAGE3 expression in HCC promotes tumor development via PI3K/AKT/mTOR and Ras/RAF/MAPK pathways and correlates with poor prognosis
PMID: 35313850
6
LAGE3 upregulation in HCC promotes angiogenesis by stabilizing VEGFA mRNA
PMID: 38653358
7
LAGE3 promotes HCC progression by facilitating JNK and ERK signaling pathways
PMID: 34837962
8
LAGE3 variants cause Galloway-Mowat syndrome with variable penetrance; some patients show milder phenotypes with better prognosis
PMID: 40490705
9
LAGE3 mutations are among five KEOPS complex genes causing Galloway-Mowat syndrome with phenotypic heterogeneity
PMID: 40533795
Disease Associationsⓘ21
Galloway-Mowat syndrome 2, X-linkedOpen Targets
0.71Strong
neurodegenerative diseaseOpen Targets
0.48Moderate
Galloway-Mowat syndromeOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.31Weak
hepatocellular carcinomaOpen Targets
0.10Suggestive
breast cancerOpen Targets
0.08Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
cancerOpen Targets
0.06Suggestive
myeloperoxidase deficiencyOpen Targets
0.05Suggestive
nonimmune chronic idiopathic neutropenia of adultsOpen Targets
0.05Suggestive
X-linked severe congenital neutropeniaOpen Targets
0.05Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.05Suggestive
Blackfan-Diamond anemiaOpen Targets
0.05Suggestive
Neutropenia - monocytopenia - deafnessOpen Targets
0.04Suggestive
neutropenia-monocytopenia-deafness syndromeOpen Targets
0.04Suggestive
Recurrent infection due to specific granule deficiencyOpen Targets
0.04Suggestive
autosomal recessive severe congenital neutropenia due to CSF3R deficiencyOpen Targets
0.04Suggestive
neutropenia, severe congenital, 1, autosomal dominantOpen Targets
0.04Suggestive
infectionOpen Targets
0.04Suggestive
Galloway-Mowat syndrome 2, X-linkedUniProt
Pathogenic Variants3
NM_006014.5(LAGE3):c.316G>T (p.Val106Phe)Pathogenic
Galloway-Mowat syndrome 2, X-linked
☆☆☆☆2017→ Residue 106
NM_006014.5(LAGE3):c.410T>C (p.Phe137Ser)Pathogenic
Galloway-Mowat syndrome 2, X-linked
☆☆☆☆2017→ Residue 137
NM_006014.5(LAGE3):c.188+1G>APathogenic
Galloway-Mowat syndrome 2, X-linked
☆☆☆☆2017
View on ClinVar ↗
Related Genes
YRDCProtein interaction98%TMEM187Protein interaction95%OSGEPL1Protein interaction90%GON7Protein interaction81%NUP43Protein interaction76%TPRKBProtein interaction69%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
93%
Liver
79%
Ovary
72%
Heart
60%
Lung
45%
Gene Interaction Network
Click a node to explore
LAGE3YRDCTMEM187OSGEPL1GON7NUP43TPRKB
PROTEIN STRUCTURE
Preparing viewer…
PDB6GWJ · 1.95 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.44LoF Tolerant
pLIⓘ
0.26Tolerant
Observed/Expected LoF0.46 [0.19–1.44]
RankingsWhere LAGE3 stands among ~20K protein-coding genes
  • #8,969of 20,598
    Most Researched49
  • #4,065of 5,498
    Most Pathogenic Variants3
  • #14,793of 17,882
    Most Constrained (LOEUF)1.44
Genes detectedLAGE3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
PMID: 28805828
Nat Genet · 2017
1.00
2
Identification and validation of L Antigen Family Member 3 as an immune-related biomarker associated with the progression of papillary thyroid cancer.
PMID: 33310661
Int Immunopharmacol · 2021
0.90
3
LAGE3 promotes angiogenesis on hepatocellular carcinoma by stabilizing VEGFA mRNA.
PMID: 38653358
Biochim Biophys Acta Mol Basis Dis · 2024
0.80
4
Correlation of LAGE3 with unfavorable prognosis and promoting tumor development in HCC via PI3K/AKT/mTOR and Ras/RAF/MAPK pathways.
PMID: 35313850
BMC Cancer · 2022
0.70
5
Two brothers presented with rare clinical characteristics with a novel LAGE3 variant: a case report and literature review.
PMID: 40490705
BMC Pediatr · 2025
0.60