| Name | bolA family member 2 |
| Description | This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2B (bolA family member 2B). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Related pseudogenes are found multiple different chromosomes. Alternative splicing results in multiple transcript variants. Transcripts initiating at this locus may extend into downstream SMG1 pseudogene 6 (SMG1P6) and encode fusion proteins with a C-terminus related to SMG1 phosphatidylinositol 3-kinase-related kinase. A readthrough locus is represented with GeneID:107282092. [provided by RefSeq, Feb 2016] |
| Summary |
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n BolA family member 2 (BOLA2) is emerging as a multifunctional protein central to cytosolic iron homeostasis and iron–sulfur (Fe–S) cluster biogenesis. Human‐specific duplications of BOLA2 have increased its copy number early in the Homo sapiens lineage, an event that not only augmented gene dosage and mRNA/protein levels but also inadvertently predisposed the 16p11.2 region to rearrangements linked to developmental and hematological phenotypes, including altered cranial size and anemia."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In the cytosol, BOLA2 operates as part of a dedicated chaperone machinery by interacting with monothiol glutaredoxins—most notably human Glrx3—to form [2Fe–2S]‐bridged heterodimeric and heterotrimeric complexes that facilitate the transfer and maturation of Fe–S clusters to apoproteins."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " This interaction is crucial for proper cellular iron–sulfur protein assembly and, by extension, for the regulation of diverse metabolic and redox processes. Moreover, dosage variations in BOLA2 are associated with disturbances in hematological traits, reinforcing its role in iron handling."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Beyond its intracellular function, studies have revealed that BolA proteins, including BOLA2, can be secreted via non‐classical pathways—a feature that may relate to their distinct functional diversification."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " In addition, BOLA2 has been found to interact with cytosolic iron chaperones such as PCBP1, linking ferrous ion distribution with Fe–S cluster assembly"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "and with components of the glutathione-mediated iron delivery system."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Furthermore, integrative analyses in the context of hepatocellular carcinoma have identified BOLA2 as a member of a gene network associated with tumor progression, suggesting that its dysregulation may also contribute to oncogenic processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "8"}]}, {"type": "t", "text": " Collectively, these findings portray BOLA2 as a critical effector in coordinating the maturation of cytosolic Fe–S proteins and maintaining iron homeostasis, with important implications for human development, disease susceptibility, and metabolic regulation.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Xander Nuttle, Giuliana Giannuzzi, Michael H Duyzend, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nature (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/nature19075"}], "href": "https://doi.org/10.1038/nature19075"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27487209"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27487209"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Haoran Li, Daphne T Mapolelo, Sajini Randeniya, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Human glutaredoxin 3 forms [2Fe-2S]-bridged complexes with human BolA2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi2019089"}], "href": "https://doi.org/10.1021/bi2019089"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22309771"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22309771"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Lucia Banci, Francesca Camponeschi, Simone Ciofi-Baffoni, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Elucidating the Molecular Function of Human BOLA2 in GRX3-Dependent Anamorsin Maturation Pathway."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Chem Soc (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/jacs.5b10592"}], "href": "https://doi.org/10.1021/jacs.5b10592"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26613676"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26613676"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Giuliana Giannuzzi, Paul J Schmidt, Eleonora Porcu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajhg.2019.09.023"}], "href": "https://doi.org/10.1016/j.ajhg.2019.09.023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31668704"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31668704"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Yu-Bo Zhou, Jia-Bing Cao, Bing-Bing Wan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "hBolA, novel non-classical secreted proteins, belonging to different BolA family with functional divergence."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Cell Biochem (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11010-008-9809-2"}], "href": "https://doi.org/10.1007/s11010-008-9809-2"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18548201"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18548201"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Sarju J Patel, Olga Protchenko, Minoo Shakoury-Elizeh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The iron chaperone and nucleic acid-binding activities of poly(rC)-binding protein 1 are separable and independently essential."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Proc Natl Acad Sci U S A (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1073/pnas.2104666118"}], "href": "https://doi.org/10.1073/pnas.2104666118"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34161287"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34161287"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Sarju J Patel, Avery G Frey, Daniel J Palenchar, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A PCBP1-BolA2 chaperone complex delivers iron for cytosolic [2Fe-2S] cluster assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Chem Biol (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41589-019-0330-6"}], "href": "https://doi.org/10.1038/s41589-019-0330-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31406370"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31406370"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Dong Wang, Zhi-Ming Wang, Sai Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Canopy Homolog 2 Expression Predicts Poor Prognosis in Hepatocellular Carcinoma with Tumor Hemorrhage."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Physiol Biochem (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000495048"}], "href": "https://doi.org/10.1159/000495048"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30415246"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30415246"}]}]}]}
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| Synonyms | BOLA2B, BOLA2A, MY016 |
| Proteins | BOLA2_HUMAN |
| NCBI Gene ID | 552900 |
| API | |
| Download Associations | |
| Predicted Functions |
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| Co-expressed Genes |
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| Expression in Tissues and Cell Lines |
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BOLA2 has 3,110 functional associations with biological entities spanning 7 categories (molecular profile, organism, functional term, phrase or reference, disease, phenotype or trait, chemical, cell line, cell type or tissue, gene, protein or microRNA) extracted from 62 datasets.
Click the + buttons to view associations for BOLA2 from the datasets below.
If available, associations are ranked by standardized value
| Dataset | Summary | |
|---|---|---|
| Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of BOLA2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
| Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of BOLA2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
| Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of BOLA2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
| BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of BOLA2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
| CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of BOLA2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
| CCLE Cell Line Proteomics | Cell lines associated with BOLA2 protein from the CCLE Cell Line Proteomics dataset. | |
| ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of BOLA2 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
| ChEA Transcription Factor Targets | transcription factors binding the promoter of BOLA2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
| ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of BOLA2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
| CM4AI KOLF21J CRISPRi Gene Perturbation Atlas | gene perturbations changing expression of BOLA2 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset. | |
| COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing BOLA2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
| COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with BOLA2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
| COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of BOLA2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
| CTD Gene-Disease Associations | diseases associated with BOLA2 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
| DeepCoverMOA Drug Mechanisms of Action | small molecule perturbations with high or low expression of BOLA2 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with BOLA2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
| DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with BOLA2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
| DisGeNET Gene-Disease Associations | diseases associated with BOLA2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
| ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at BOLA2 gene from the ENCODE Histone Modification Site Profiles dataset. | |
| ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of BOLA2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
| ENCODE Transcription Factor Targets | transcription factors binding the promoter of BOLA2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
| ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing BOLA2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
| GeneRIF Biological Term Annotations | biological terms co-occuring with BOLA2 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
| GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing BOLA2 from the GeneSigDB Published Gene Signatures dataset. | |
| GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of BOLA2 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
| GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of BOLA2 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of BOLA2 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of BOLA2 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
| GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of BOLA2 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
| GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of BOLA2 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
| GO Biological Process Annotations 2023 | biological processes involving BOLA2 gene from the curated GO Biological Process Annotations 2023 dataset. | |
| GO Cellular Component Annotations 2023 | cellular components containing BOLA2 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
| GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of BOLA2 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 BOLA2 gene relative to other tissue samples from the GTEx Tissue-Specific Aging Signatures dataset. | |
| Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of BOLA2 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
| HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of BOLA2 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
| HPA Tissue Gene Expression Profiles | tissues with high or low expression of BOLA2 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
| HPA Tissue Protein Expression Profiles | tissues with high or low expression of BOLA2 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
| HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of BOLA2 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
| HPM Cell Type and Tissue Protein Expression Profiles | cell types and tissues with high or low expression of BOLA2 protein relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset. | |
| Hub Proteins Protein-Protein Interactions | interacting hub proteins for BOLA2 from the curated Hub Proteins Protein-Protein Interactions dataset. | |
| IMPC Knockout Mouse Phenotypes | phenotypes of mice caused by BOLA2 gene knockout from the IMPC Knockout Mouse Phenotypes dataset. | |
| JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of BOLA2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of BOLA2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
| Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of BOLA2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
| KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of BOLA2 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
| LOCATE Predicted Protein Localization Annotations | cellular components predicted to contain BOLA2 protein from the LOCATE Predicted Protein Localization Annotations dataset. | |
| MiRTarBase microRNA Targets | microRNAs targeting BOLA2 gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset. | |
| MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of BOLA2 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
| MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of BOLA2 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
| Pathway Commons Protein-Protein Interactions | interacting proteins for BOLA2 from the Pathway Commons Protein-Protein Interactions dataset. | |
| PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of BOLA2 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
| PFOCR Pathway Figure Associations 2023 | pathways involving BOLA2 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
| PFOCR Pathway Figure Associations 2024 | pathways involving BOLA2 protein from the Wikipathways PFOCR 2024 dataset. | |
| Reactome Pathways 2024 | pathways involving BOLA2 protein from the Reactome Pathways 2024 dataset. | |
| Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles | cell types and tissues with high or low DNA methylation of BOLA2 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset. | |
| Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of BOLA2 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
| Rummagene Transcription Factor Associations 2026 | transcription factors regulating expression of BOLA2 gene from the Rummagene Transcription Factor Associations 2026 dataset. | |
| TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of BOLA2 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
| TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of BOLA2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of BOLA2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
| TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with BOLA2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
