| Name | terminal nucleotidyltransferase 5A |
| Description | Enables poly(A) RNA polymerase activity. Predicted to be involved in mRNA stabilization; positive regulation of bone mineralization; and positive regulation of osteoblast differentiation. Predicted to act upstream of or within response to bacterium. Predicted to be located in cytoplasm. Implicated in lung non-small cell carcinoma; osteoarthritis; and osteogenesis imperfecta type 18. [provided by Alliance of Genome Resources, Mar 2025] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nTENT5A—formerly characterized in several studies as FAM46A—is emerging as a noncanonical poly(A) polymerase with multifaceted roles in regulating mRNA stability and gene expression. Genetic investigations have linked variation in this gene to a spectrum of phenotypes including retinal dystrophies, where bioinformatic and expression studies implicated its involvement in retinal signaling pathways in retinitis pigmentosa"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ", to immune responses evident in tuberculosis susceptibility"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", and to structural joint disorders such as osteoarthritis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, associations with non‐small cell lung cancer further underscore its contribution to tumor biology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional studies have broadened the functional landscape of TENT5A/FAM46A. In obese subjects, for example, FAM46A was identified and validated as a trans‐regulator for leptin, suggesting a role in metabolic control."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " A case report documenting a frameshift mutation in FAM46A further pointed to its potential impact on bone development by contributing to osteogenesis imperfecta features."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMore recent investigations have provided insights into its cellular functions. Elevated expression of FAM46A in glioblastoma cells"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": "and, notably, functional studies in myoblasts have highlighted its enzymatic role as a noncanonical poly(A) polymerase. In the context of adolescent idiopathic scoliosis, TENT5A appears to influence myoblast function, potentially contributing to paravertebral muscle asymmetry and thus to the pathogenesis of the disease."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "I Barragán, S Borrego, M M Abd El-Aziz, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genetic analysis of FAM46A in Spanish families with autosomal recessive retinitis pigmentosa: characterisation of novel VNTRs."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Hum Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1469-1809.2007.00393.x"}], "href": "https://doi.org/10.1111/j.1469-1809.2007.00393.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17803723"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17803723"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Godfrey Essien Etokebe, Ljiljana Bulat-Kardum, Ludvig Andre Munthe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of variable number of tandem repeats in the coding region of the FAM46A gene, FAM46A rs11040 SNP and BAG6 rs3117582 SNP with susceptibility to tuberculosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0091385"}], "href": "https://doi.org/10.1371/journal.pone.0091385"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24625963"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24625963"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Godfrey E Etokebe, Zdravko Jotanovic, Radovan Mihelic, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Susceptibility to large-joint osteoarthritis (hip and knee) is associated with BAG6 rs3117582 SNP and the VNTR polymorphism in the second exon of the FAM46A gene on chromosome 6."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Orthop Res (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jor.22738"}], "href": "https://doi.org/10.1002/jor.22738"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25231575"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25231575"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Godfrey Essien Etokebe, Shanbeh Zienolddiny, Zeljko Kupanovac, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of the FAM46A gene VNTRs and BAG6 rs3117582 SNP with non small cell lung cancer (NSCLC) in Croatian and Norwegian populations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0122651"}], "href": "https://doi.org/10.1371/journal.pone.0122651"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25884493"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25884493"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jérôme Carayol, Christian Chabert, Alessandro Di Cara, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Protein quantitative trait locus study in obesity during weight-loss identifies a leptin regulator."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Commun (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41467-017-02182-z"}], "href": "https://doi.org/10.1038/s41467-017-02182-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29234017"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29234017"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Mathilde Doyard, Séverine Bacrot, Céline Huber, et al. "}, {"type": "b", "children": [{"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "FAM46A"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " mutations are responsible for autosomal recessive osteogenesis imperfecta."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmedgenet-2017-104999"}], "href": "https://doi.org/10.1136/jmedgenet-2017-104999"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29358272"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29358272"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Yibiao Wang, Renduan Cai, Pengcheng Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FAM46A expression is elevated in glioblastoma and predicts poor prognosis of patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Neurol Neurosurg (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.clineuro.2020.106421"}], "href": "https://doi.org/10.1016/j.clineuro.2020.106421"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33370626"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33370626"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Ming Luo, Huiliang Yang, Diwei Wu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tent5a modulates muscle fiber formation in adolescent idiopathic scoliosis via maintenance of myogenin expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Prolif (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cpr.13183"}], "href": "https://doi.org/10.1111/cpr.13183"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35137485"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35137485"}]}]}]}
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| NCBI Gene ID | 55603 |
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| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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TENT5A has 5,332 functional associations with biological entities spanning 6 categories (chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 39 datasets.
Click the + buttons to view associations for TENT5A from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TENT5A gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset. | |
| Carcinogenome Chemical Perturbation Carcinogenicity Signatures | small molecule perturbations changing expression of TENT5A gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset. | |
| CellMarker Gene-Cell Type Associations | cell types associated with TENT5A gene from the CellMarker Gene-Cell Type Associations dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of TENT5A gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| ClinVar Gene-Phenotype Associations 2025 | phenotypes associated with TENT5A gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with TENT5A protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of TENT5A protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DepMap CRISPR Gene Dependency | cell lines with fitness changed by TENT5A gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
| DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving TENT5A gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
| DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with TENT5A gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with TENT5A gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving TENT5A gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Biological Process Annotations 2025 | biological processes involving TENT5A gene from the curated GO Biological Process Annotations2025 dataset. | |
| GO Molecular Function Annotations 2023 | molecular functions performed by TENT5A gene from the curated GO Molecular Function Annotations 2023 dataset. | |
| GO Molecular Function Annotations 2025 | molecular functions performed by TENT5A gene from the curated GO Molecular Function Annotations 2025 dataset. | |
| GTEx eQTL 2025 | SNPs regulating expression of TENT5A gene from the GTEx eQTL 2025 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of TENT5A gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
| GTEx Tissue-Specific Aging Signatures | tissue samples with high or low expression of TENT5A gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| GWAS Catalog SNP-Phenotype Associations 2025 | phenotypes associated with TENT5A gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset. | |
| HuBMAP ASCT+B Annotations | cell types associated with TENT5A gene from the HuBMAP ASCT+B dataset. | |
| HuBMAP ASCT+B Augmented with RNA-seq Coexpression | cell types associated with TENT5A gene from the HuBMAP ASCT+B Augmented with RNA-seq Coexpression dataset. | |
| HuBMAP Azimuth Cell Type Annotations | cell types associated with TENT5A gene from the HuBMAP Azimuth Cell Type Annotations dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by TENT5A gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Human Transcription Factor Targets 2025 | transcription factors regulating expression of TENT5A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset. | |
| JASPAR Predicted Mouse Transcription Factor Targets 2025 | transcription factors regulating expression of TENT5A gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset. | |
| LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of TENT5A gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
| LINCS L1000 CMAP CRISPR Knockout Consensus Signatures | gene perturbations changing expression of TENT5A gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset. | |
| MGI Mouse Phenotype Associations 2023 | phenotypes of transgenic mice caused by TENT5A gene mutations from the MGI Mouse Phenotype Associations 2023 dataset. | |
| NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of TENT5A gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving TENT5A protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving TENT5A protein from the Wikipathways PFOCR 2024 dataset. | |
| Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures | gene perturbations changing expression of TENT5A gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset. | |
| RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of TENT5A gene from the RummaGEO Drug Perturbation Signatures dataset. | |
| RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of TENT5A gene from the RummaGEO Gene Perturbation Signatures dataset. | |
| Sci-Plex Drug Perturbation Signatures | drug perturbations changing expression of TENT5A gene from the Sci-Plex Drug Perturbation Signatures dataset. | |
| Tahoe Therapeutics Tahoe 100M Perturbation Atlas | drug perturbations changing expression of TENT5A gene from the Tahoe Therapeutics Tahoe 100M Perturbation Atlas dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TENT5A protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TENT5A protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with TENT5A protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
