BOLA2B Gene

Name bolA family member 2B
Description This gene is located within a region of a segmental duplication on chromosome 16 and is identical to BOLA2 (bolA family member 2). The product of this gene belongs to a family of proteins that are widely conserved and may be involved in iron maturation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n BOLA2 (also referred to as BOLA2B in copy‐number studies) is an evolutionarily conserved protein that plays a central role in cytosolic iron–sulfur (Fe–S) protein maturation and cellular iron homeostasis. In human cells, BOLA2 forms a heterotrimeric complex with monothiol glutaredoxin‐3 (GRX3), in which two BOLA2 molecules associate with one GRX3 molecule to bind and transfer [2Fe–2S] clusters to target apoproteins, thereby promoting the maturation of essential Fe–S enzymes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In addition, human‐specific duplications at the 16p11.2 locus result in variable BOLA2 dosage that has been linked to diverse hematological traits and neurodevelopmental outcomes; reduced BOLA2 copy number is associated with an increased risk of iron‐deficiency anemia, while increased dosage has been implicated in macrocephaly and autism."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": " Moreover, BOLA2 interacts with other iron chaperones such as PCBP1, forming intermediate complexes that help bridge the labile iron pool with Fe–S cluster assembly pathways."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Evolutionary analyses further support that BolA family proteins, including BOLA2, engage in conserved interactions with monothiol glutaredoxins across diverse species, emphasizing their fundamental role in maintaining intracellular iron balance."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "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": 2, "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": 3, "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": 4, "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": 5, "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": 6, "children": [{"type": "t", "text": "Tiphaine Dhalleine, Nicolas Rouhier, Jérémy Couturier "}, {"type": "b", "children": [{"type": "t", "text": "Putative roles of glutaredoxin-BolA holo-heterodimers in plants."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Plant Signal Behav (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4161/psb.28564"}], "href": "https://doi.org/10.4161/psb.28564"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24714563"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24714563"}]}]}]}
Synonyms BOLA2
NCBI Gene ID 654483
API
Download Associations
Predicted Functions View BOLA2B's ARCHS4 Predicted Functions.
Co-expressed Genes View BOLA2B's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View BOLA2B's ARCHS4 Predicted Functions.

Functional Associations

BOLA2B has 3,083 functional associations with biological entities spanning 7 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, cell line, cell type or tissue, gene, protein or microRNA) extracted from 55 datasets.

Click the + buttons to view associations for BOLA2B 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 BOLA2B 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 BOLA2B gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of BOLA2B gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of BOLA2B gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of BOLA2B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
ClinVar Gene-Phenotype Associations 2025 phenotypes associated with BOLA2B gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CM4AI KOLF21J CRISPRi Gene Perturbation Atlas gene perturbations changing expression of BOLA2B gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing BOLA2B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing BOLA2B protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with BOLA2B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with BOLA2B protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with BOLA2B gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores diseases co-occuring with BOLA2B 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 BOLA2B 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 BOLA2B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of BOLA2B gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of BOLA2B gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing BOLA2B from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of BOLA2B gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of BOLA2B 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 BOLA2B 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 BOLA2B gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GO Biological Process Annotations 2025 biological processes involving BOLA2B gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2025 cellular components containing BOLA2B protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by BOLA2B gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of BOLA2B gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of BOLA2B gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with BOLA2B gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
HPA Cell Line Gene Expression Profiles cell lines with high or low expression of BOLA2B 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 BOLA2B gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of BOLA2B 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 BOLA2B protein relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of BOLA2B 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 BOLA2B gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of BOLA2B 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 BOLA2B 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 BOLA2B 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 BOLA2B gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by BOLA2B gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MiRTarBase microRNA Targets microRNAs targeting BOLA2B gene in low- or high-throughput microRNA targeting studies from the MiRTarBase microRNA Targets dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of BOLA2B gene from the NIBR DRUG-seq U2OS MoA Box dataset.
NURSA Protein Complexes protein complexs containing BOLA2B protein recovered by IP-MS from the NURSA Protein Complexes dataset.
PFOCR Pathway Figure Associations 2024 pathways involving BOLA2B protein from the Wikipathways PFOCR 2024 dataset.
Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of BOLA2B gene from the Replogle et al., Cell, 2022 K562 Essential Perturb-seq Gene Perturbation Signatures dataset.
Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of BOLA2B gene from the Replogle et al., Cell, 2022 K562 Genome-wide Perturb-seq Gene Perturbation Signatures dataset.
Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures gene perturbations changing expression of BOLA2B gene from the Replogle et al., Cell, 2022 RPE1 Essential Perturb-seq Gene Perturbation Signatures dataset.
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles cell types and tissues with high or low expression of BOLA2B 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 BOLA2B gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of BOLA2B gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of BOLA2B gene from the RummaGEO Gene Perturbation Signatures dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores tissues with high expression of BOLA2B protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset.
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 tissues with high expression of BOLA2B protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of BOLA2B 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 BOLA2B protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with BOLA2B protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.