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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RMND5A
required for meiotic nuclear division 5 homolog A
Chromosome 2 · 2p11.2
NCBI Gene: 64795Ensembl: ENSG00000153561.14HGNC: HGNC:25850UniProt: Q9H871
54PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleuscytoplasmnucleoplasmprotein bindingliver diseasehypertrophic cardiomyopathyskin cancerneoplasm
✦AI Summary

RMND5A is a core component of the CTLH E3 ubiquitin-protein ligase complex that mediates selective ubiquitination and proteasomal degradation of target proteins 1. As a RING domain protein, RMND5A works with MAEA to catalyze K48 and K63 poly-ubiquitin chain formation, with both subunits interdependent for complex stability and activity 2. The CTLH complex catalytic activity is essential for normal cell proliferation 1. Beyond its classical E3 ligase function, RMND5A maintains self-renewal of human neural stem/precursor cells by suppressing Wnt signaling and activating mTOR pathways, contributing to cortical expansion during brain development 3. In endothelial cells, RMND5A overexpression inhibits proliferation, migration, and angiogenesis via ERK and NF-κB pathway suppression; conversely, oral cancer cells evade this through exosomal miR-21-mediated RMND5A downregulation 4. Clinically, RMND5A dysregulation associates with multiple pathologies. Structural variants affecting RMND5A are candidate genetic determinants in neural tube defects 5. In laryngeal squamous cell carcinoma, IGF2BP3-mediated m6A-dependent RMND5A upregulation promotes tumorigenicity and immune evasion by increasing PD-L1 expression 6. MiR-138 targeting RMND5A regulates miRNA processing by destabilizing Exportin-5 and suppresses cancer cell migration 7.

Sources cited
1
RMND5A and MAEA are required for CTLH complex catalytic activity; complex catalytic activity is required for normal cell proliferation
PMID: 29911972
2
RMND5A is a RING domain protein in the CTLH complex; mediates K48 and K63 poly-ubiquitin chains; MAEA and RMND5A protein levels are interdependent
PMID: 31285494
3
RMND5A maintains human neural stem/precursor cell self-renewal by suppressing Wnt signaling and activating mTOR pathways
PMID: 40377017
4
RMND5A overexpression reduces endothelial cell proliferation, migration, and tube formation; oral cancer cells suppress RMND5A expression in endothelial cells via exosomal miR-21
PMID: 38229133
5
Structural variants affecting RMND5A are identified as candidate genes associated with neural tube defects
PMID: 40107724
6
IGF2BP3 elevates RMND5A expression through m6A modification; RMND5A upregulation promotes laryngeal squamous cell carcinoma progression and immune evasion via PD-L1
PMID: 41284154
7
miR-138 targets RMND5A and decreases Exportin-5 stability, reducing miRNA processing and cancer cell migration
PMID: 24057215
Disease Associationsⓘ20
liver diseaseOpen Targets
0.28Weak
hypertrophic cardiomyopathyOpen Targets
0.27Weak
skin cancerOpen Targets
0.27Weak
neoplasmOpen Targets
0.06Suggestive
pancreatic adenocarcinomaOpen Targets
0.06Suggestive
oral squamous cell carcinomaOpen Targets
0.05Suggestive
infectionOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
progressive supranuclear palsyOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
pachyonychia congenitaOpen Targets
0.02Suggestive
obesityOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.02Suggestive
gastric carcinomaOpen Targets
0.01Suggestive
ovarian cancerOpen Targets
0.01Suggestive
ciliopathyOpen Targets
0.01Suggestive
Global developmental delayOpen Targets
0.01Suggestive
laryngeal squamous cell carcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NHLRC3Shared pathway100%MKLN1Protein interaction100%RANBP9Protein interaction100%MAEAProtein interaction100%ARMC8Protein interaction100%YPEL5Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Brain
68%
Bone Marrow
63%
Liver
48%
Lung
22%
Ovary
19%
Gene Interaction Network
Click a node to explore
RMND5ANHLRC3MKLN1RANBP9MAEAARMC8YPEL5
PROTEIN STRUCTURE
Preparing viewer…
PDB8PJN · 3.40 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.61LoF Tolerant
pLIⓘ
0.55Intermediate
Observed/Expected LoF0.39 [0.25–0.61]
RankingsWhere RMND5A stands among ~20K protein-coding genes
  • #8,365of 20,598
    Most Researched54
  • #4,267of 17,882
    Most Constrained (LOEUF)0.61 · top quartile
Genes detectedRMND5A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
E3 ubiquitin ligase RMND5A maintains the self-renewal state of human neural stem/precursor cells by regulating Wnt and mTOR signaling pathways.
PMID: 40377017
FEBS Lett · 2025
1.00
2
The mammalian CTLH complex is an E3 ubiquitin ligase that targets its subunit muskelin for degradation.
PMID: 31285494
Sci Rep · 2019
0.90
3
Oral cancer cell to endothelial cell communication via exosomal miR-21/RMND5A pathway.
PMID: 38229133
BMC Oral Health · 2024
0.80
4
RANBP9 and RANBP10 cooperate in regulating non-small cell lung cancer proliferation.
PMID: 40883813
J Exp Clin Cancer Res · 2025
0.70
5
Optical genome mapping identifies rare structural variants in neural tube defects.
PMID: 40107724
Genome Res · 2025
0.60