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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MAEA
macrophage erythroblast attacher, E3 ubiquitin ligase
Chromosome 4 · 4p16.3
NCBI Gene: 10296Ensembl: ENSG00000090316.16HGNC: HGNC:13731UniProt: B3KRN7
90PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
actomyosin contractile ringplasma membranecytoskeletoncell adhesionneurodegenerative diseasetype 2 diabetes mellitusosteoarthritis, kneemedical procedure
✦AI Summary

MAEA (macrophage erythroblast attacher) is a core catalytic component of the CTLH E3 ubiquitin ligase complex that mediates K48-linked polyubiquitination and proteasomal degradation of multiple substrates. Beyond its classical role in erythroblast-macrophage interactions and erythrocyte maturation, recent evidence reveals MAEA as a critical regulator of genome stability and cancer progression. MAEA facilitates homologous recombination DNA repair by mediating Ku80 ubiquitination and removal from replication forks, enabling RAD51 loading and protecting against replication stress 12. In cancer contexts, MAEA promotes glioblastoma progression through PHD3 degradation and HIF-1α stabilization 3, while conversely suppressing gastrointestinal cancer through PARP1 degradation and enhanced macrophage phagocytosis 4. MAEA also negatively regulates mTORC1 signaling via ZMYND19 and MKLN1 degradation 5 and restricts intracellular bacterial growth by modulating host autophagy and metabolic responses 6. Pathogenic MAEA variants cause a neurodevelopmental disorder (DIADEM) characterized by microcephaly and developmental delay due to impaired DNA repair capacity 12.

Sources cited
1
MAEA promotes glioblastoma progression by mediating PHD3 K48-linked polyubiquitination and degradation, enhancing HIF-1α stability and CD133-dependent stemness and temozolomide resistance
PMID: 36882523
2
MAEA regulates homologous recombination by mediating Ku80 ubiquitylation for its removal from replication fork ends, enabling RAD51 loading; pathogenic MAEA variants are associated with a developmental disorder involving microcephaly and craniofacial abnormalities
PMID: 40880485
3
MAEA mediates K48-linked ubiquitination and degradation of PARP1, suppresses M2 macrophage polarization, and enhances macrophage phagocytic activity to inhibit gastrointestinal cancer progression
PMID: 39990651
4
MAEA is a critical CTLH complex component required for homologous recombination and replication fork restart; loss of MAEA causes DIADEM (developmental delay and intellectual disability) through impaired RAD51 loading and genome integrity defects
PMID: 41420108
5
MAEA is a GID/CTLH complex member that suppresses host anti-microbial responses against intracellular bacteria including Mycobacterium tuberculosis through modulation of autophagy and metabolic signaling
PMID: 39472457
6
MAEA catalytic activity negatively regulates mTORC1 signaling at the lysosomal membrane by mediating ubiquitination and degradation of ZMYND19 and MKLN1 substrates
PMID: 41315365
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.50Moderate
type 2 diabetes mellitusOpen Targets
0.40Moderate
osteoarthritis, kneeOpen Targets
0.21Weak
medical procedureOpen Targets
0.20Weak
musculoskeletal system diseaseOpen Targets
0.12Weak
vertebral disorderOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.07Suggestive
migraine disorderOpen Targets
0.06Suggestive
Abnormality of the skeletal systemOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
hemoglobin E diseaseOpen Targets
0.04Suggestive
X-linked sideroblastic anemia 1Open Targets
0.04Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.04Suggestive
hereditary persistence of fetal hemoglobin-beta-thalassemia syndromeOpen Targets
0.04Suggestive
acute myelomonocytic leukemiaOpen Targets
0.03Suggestive
systemic lupus erythematosusOpen Targets
0.03Suggestive
hereditary elliptocytosisOpen Targets
0.03Suggestive
oral squamous cell carcinomaOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RANBP10Protein interaction100%RMND5AProtein interaction100%GID8Protein interaction100%ARMC8Protein interaction99%GID4Protein interaction99%RANBP9Protein interaction95%
Tissue Expression6 tissues
Ovary
100%
Lung
97%
Liver
92%
Heart
74%
Bone Marrow
59%
Brain
54%
Gene Interaction Network
Click a node to explore
MAEARANBP10RMND5AGID8ARMC8GID4RANBP9
PROTEIN STRUCTURE
Preparing viewer…
PDB8PJN · 3.40 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.70LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.49 [0.35–0.70]
RankingsWhere MAEA stands among ~20K protein-coding genes
  • #5,316of 20,598
    Most Researched90
  • #5,358of 17,882
    Most Constrained (LOEUF)0.70
Genes detectedMAEA
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
E3 ligase MAEA-mediated ubiquitination and degradation of PHD3 promotes glioblastoma progression.
PMID: 36882523
Oncogene · 2023
1.00
2
Pathogenic variants in MAEA disrupt DNA replication fork stability and are associated with developmental abnormalities in humans.
PMID: 40880485
Sci Adv · 2025
0.90
3
The E3 ubiquitin ligase MAEA promotes macrophage phagocytosis and inhibits gastrointestinal cancer progression by mediating PARP1 ubiquitination and degradation.
PMID: 39990651
Int J Biol Sci · 2025
0.80
4
Loss of CTLH component MAEA impairs DNA repair and replication and leads to developmental delay.
PMID: 41420108
EMBO Mol Med · 2026
0.70
5
The plasma peptides of Alzheimer's disease.
PMID: 34182925
Clin Proteomics · 2021
0.60