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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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MCTS2
MCTS family member 2
Chromosome 20 · 20q11.21
NCBI Gene: 100101490Ensembl: ENSG00000101898.8HGNC: HGNC:49760UniProt: A0A3B3IRV3
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
formation of translation preinitiation complexRNA bindingtranslation reinitiationcytoplasmHypoventilationovarian cancercancerBehcet's syndrome
✦AI Summary

MCTS2 (MCTS family member 2) is an imprinted retrogene located on chromosome 20 that functions in translation re-initiation and appears to have epigenetic regulatory roles. Primary Function: MCTS2 encodes a DENR partner protein that promotes ribosomal re-initiation at upstream open reading frames (uORFs), allowing resumed scanning and downstream translation initiation after termination at uORFs 1. This function parallels its homolog MCTS1-DENR but operates through distinct mechanisms independent of broader gene regulation controlled by eIF2D 1. Mechanism: MCTS2 participates in the formation of translation preinitiation complexes during the re-initiation process 1. The gene is paternally expressed and undergoes promoter methylation during oogenesis as an imprinted locus, reflecting its origin as a retrogene derived from X chromosome 20 2. Disease and Clinical Relevance: MCTS2 methylation status serves as a sensitive biomarker for environmental exposure and health outcomes. Alterations in MCTS2 DNA methylation correlate with fine particulate matter (PM2.5) exposure and constituent metals, with implications for cancer pathways 3. Changes in MCTS2 imprinting methylation predict hippocampal volume changes and white matter hyperintensities with aging 4. Additionally, MCTS2 methylation aberrations are identified in patients with intellectual disability and imprinting disorders 5. Dysregulation of MCTS2 imprinting control regions occurs when TET3-mediated DNA demethylation is compromised in neural progenitor cells 6.

Sources cited
1
MCTS2 is a DENR partner promoting re-initiation at uORFs in translation and functions in preinitiation complex formation
PMID: 39748120
2
MCTS2 is an imprinted retrogene paternally expressed with promoter methylation during oogenesis, derived from X chromosome sequences
PMID: 17291163
3
MCTS2 methylation is a sensitive biomarker of PM2.5 constituent exposure and associated with cancer-related pathways
PMID: 33549891
4
MCTS2 methylation changes predict hippocampal volume and white matter hyperintensity changes with age
PMID: 33441584
5
MCTS2 methylation aberrations identified in patients with intellectual disability and suspected imprinting disorders
PMID: 26003415
6
TET3 regulates MCTS2 imprinting control region methylation in neural progenitor cells to maintain proper methylation and neural stem cell identity
PMID: 31646359
7
MCTS2 is extensively expressed in neural tissues during embryogenesis with complex regulatory relationships with host gene H13
PMID: 24063864
Disease Associationsⓘ20
HypoventilationOpen Targets
0.03Suggestive
ovarian cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Beckwith-Wiedemann syndromeOpen Targets
0.00Suggestive
Behcet's syndromeOpen Targets
0.00Suggestive
fetal growth restrictionOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
breast neoplasmOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
cholangiocarcinomaOpen Targets
0.00Suggestive
colon adenocarcinomaOpen Targets
0.00Suggestive
colorectal adenocarcinomaOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
lung cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
sarcomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
EIF2S3BShared pathway100%MTIF2Shared pathway33%MCTS1Shared pathway33%EIF2S2Shared pathway25%EIF2S3Shared pathway25%DHX29Shared pathway20%
Tissue Expression6 tissues
Brain
100%
Ovary
42%
Liver
41%
Lung
34%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
MCTS2EIF2S3BMTIF2MCTS1EIF2S2EIF2S3DHX29
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt A0A3B3IRV3
View on AlphaFold ↗
RankingsWhere MCTS2 stands among ~20K protein-coding genes
  • #18,125of 20,598
    Most Researched6
Genes detectedMCTS2
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
MCTS2 and distinct eIF2D roles in uORF-dependent translation regulation revealed by in vitro re-initiation assays.
PMID: 39748120
EMBO J · 2025
1.00
2
Imprinting methylation predicts hippocampal volumes and hyperintensities and the change with age in later life.
PMID: 33441584
Sci Rep · 2021
0.86
3
A screen for retrotransposed imprinted genes reveals an association between X chromosome homology and maternal germ-line methylation.
PMID: 17291163
PLoS Genet · 2007
0.71
4
Tet3 regulates cellular identity and DNA methylation in neural progenitor cells.
PMID: 31646359
Cell Mol Life Sci · 2020
0.57
5
Short-term personal PM
PMID: 33549891
Environ Pollut · 2021
0.43