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GeneE
2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TMA16
translation machinery associated 16 homolog
Chromosome 4 Β· 4q32.2
NCBI Gene: 55319Ensembl: ENSG00000198498.11HGNC: HGNC:25638UniProt: Q96EY4
64PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein-macromolecule adaptor activitypreribosome bindingribosomal large subunit biogenesisAbnormality of limbsinsomniaplacenta praeviaanxiety disorder
✦AI Summary

Based on limited published evidence, TMA16 is involved in biogenesis of the 60S ribosomal subunit in the nucleus. It functions in preribosome binding and protein-macromolecule adaptor activity within the nucleolus, nucleoplasm, and nucleus. Structural analysis revealed TMA16 localized between the 5S RNA and P0 stalk in human pre-60S particles before nuclear export, suggesting a role in pre-ribosomal particle maturation 1. Additionally, TMA16 methylation patterns in cell-free DNA have been identified as a potential diagnostic marker for Parkinson's disease 2.

Sources cited
1
TMA16 localizes between 5S RNA and P0 stalk in human pre-60S particles and participates in factor-assisted rRNA maturation during ribosome biogenesis
PMID: 32669547
2
TMA16 methylation patterns in cerebrospinal fluid and blood cell-free DNA are associated with Parkinson's disease diagnosis
PMID: 40527220
⚠Limited data available β€” This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
Abnormality of limbsOpen Targets
0.31Weak
insomniaOpen Targets
0.10Weak
placenta praeviaOpen Targets
0.08Suggestive
anxiety disorderOpen Targets
0.08Suggestive
rectosigmoid junction neoplasmOpen Targets
0.08Suggestive
hyperuricemiaOpen Targets
0.08Suggestive
eyelid diseaseOpen Targets
0.08Suggestive
smoking initiationOpen Targets
0.07Suggestive
acute tonsillitisOpen Targets
0.07Suggestive
obesityOpen Targets
0.07Suggestive
adolescent idiopathic scoliosisOpen Targets
0.06Suggestive
multiple sclerosisOpen Targets
0.04Suggestive
connective tissue diseaseOpen Targets
0.04Suggestive
Sjogren syndromeOpen Targets
0.04Suggestive
asthmaOpen Targets
0.04Suggestive
response to exerciseOpen Targets
0.03Suggestive
rheumatoid arthritisOpen Targets
0.03Suggestive
upper extremity fractureOpen Targets
0.03Suggestive
hemiplegiaOpen Targets
0.03Suggestive
benign neoplasm of adrenal glandOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
NOP16Shared pathway100%RPL39Protein interaction100%RPL13AProtein interaction100%RPL38Protein interaction100%RPL27Protein interaction100%RPL29Protein interaction100%
Tissue Expression6 tissues
Ovary
100%
Heart
92%
Liver
83%
Lung
67%
Bone Marrow
62%
Brain
48%
Gene Interaction Network
Click a node to explore
TMA16NOP16RPL39RPL13ARPL38RPL27RPL29
PROTEIN STRUCTURE
Preparing viewer…
PDB8FLB Β· 2.55 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.60LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF1.13 [0.81–1.60]
RankingsWhere TMA16 stands among ~20K protein-coding genes
  • #7,323of 20,598
    Most Researched64
  • #15,656of 17,882
    Most Constrained (LOEUF)1.60
Genes detectedTMA16
Sources retrieved2 papers
Response timeβ€”
πŸ“„ Sources
2
1
Structural snapshots of human pre-60S ribosomal particles before and after nuclear export.
PMID: 32669547
Nat Commun Β· 2020
1.00
2
Characterization of methylation profile in biofluid cell-free DNA and identification of differentially methylated genes for phenotypic representations in Parkinson's disease.
PMID: 40527220
Clin Neurol Neurosurg Β· 2025
0.50