BOLA2 Gene - BOLA Family Member 2
Iron-Sulfur Cluster Assembly Factor and Potential Disease Modifier
Gene Information Card
| Symbol | BOLA2 |
|---|---|
| Full Name | BOLA family member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 552900 ncbi.nlm.nih.gov/gene/552900 |
| Ensembl ID | ENSG00000183336 |
| UniProt ID | Q9H3K6 |
| OMIM ID | 613182 |
| HGNC ID | 33823 |
| Aliases | BOLA2A, BOLA2B, BOLA2S |
Description
BOLA2 (BOLA family member 2) is a protein-coding gene located on chromosome 16p11.2. It encodes a component of the cytosolic iron-sulfur (Fe-S) cluster assembly machinery, functioning as a monothiol glutaredoxin-like protein that binds Fe-S clusters and participates in cellular iron homeostasis. BOLA2 interacts with GLRX3 and other partners to facilitate Fe-S cluster transfer to target proteins. The gene is located within a recurrent 16p11.2 copy number variation (CNV) region associated with neurodevelopmental disorders and metabolic traits.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 16p11.2 deletion syndrome | Haploinsufficiency of BOLA2 and other genes in the region contributes to neurodevelopmental phenotypes, including autism and intellectual disability. | ClinVar, OMIM |
| 16p11.2 duplication syndrome | Increased gene dosage may alter iron-sulfur cluster biogenesis, potentially affecting neurodevelopment and metabolism. | ClinVar, OMIM |
| Iron metabolism disorders | BOLA2 dysfunction may impair Fe-S cluster assembly, leading to cellular iron dysregulation. | UniProt, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain (cerebellum) | 8.5 | Medium |
| Liver | 7.2 | Low |
| Heart | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.4 | High expression in embryonic kidney cells |
| K562 | 11.2 | Moderate expression in leukemia cell line |
| HeLa | 9.7 | Moderate expression in cervical cancer cells |
| HepG2 | 7.8 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted to abolish protein translation |
| c.148C>T (p.Arg50Trp) | Missense | <0.01% | May affect Fe-S cluster binding; uncertain significance |
| 16p11.2 deletion (including BOLA2) | Copy number loss | 0.03% | Haploinsufficiency associated with neurodevelopmental disorders |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., start codon loss, deletions) impair Fe-S cluster assembly, potentially disrupting cellular iron homeostasis and contributing to disease phenotypes.
Gain of Function (GOF)
No gain-of-function mutations have been reported for BOLA2 in curated databases.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for BOLA2.
View complete mutation data：
Gene Ontology (GO)
| • copper ion binding (GO:0005507) | • cellular iron ion homeostasis (GO:0006879) |
| • iron-sulfur cluster assembly (GO:0016226) | • enzyme regulator activity (GO:0030234) |
| • metal ion binding (GO:0046872) |
Pathways
• Cytosolic iron-sulfur cluster assembly (Reactome: R-HSA-2564830)
• Iron metabolism and homeostasis (KEGG: hsa04978)
Protein Summary
BOLA2 is a small, evolutionarily conserved protein (approximately 10 kDa) that belongs to the BOLA family. It contains a single CGFS (Cys-Gly-Phe-Ser) motif critical for Fe-S cluster coordination. BOLA2 forms a heterodimeric complex with GLRX3 (glutaredoxin 3) to bind and transfer [2Fe-2S] clusters to recipient proteins in the cytosol. This function is essential for the maturation of cytosolic and nuclear Fe-S proteins, including those involved in DNA replication and repair. BOLA2 is ubiquitously expressed, with highest levels in testis and bone marrow. Its genomic location within the 16p11.2 CNV region links it to neurodevelopmental disorders, though its specific contribution requires further study.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BOLA2B Knockout HEK293 Cell Line | EDJ-KQ11846 | Human | 654483 | Details Get a Quote |
| BOLA2 Knockout HEK293 Cell Line | EDJ-KQ12555 | Human | 552900 | Details Get a Quote |
| BOLA2 Knockout A-549 Cell Line | EDJ-KQ41564 | Human | 552900 | Details Get a Quote |
| BOLA2 Knockout HCT 116 Cell Line | EDJ-KQ41565 | Human | 552900 | Details Get a Quote |
| BOLA2 Knockout HeLa Cell Line | EDJ-KQ41566 | Human | 552900 | Details Get a Quote |
| BOLA2B Knockout A-549 Cell Line | EDJ-KQ41567 | Human | 654483 | Details Get a Quote |
| BOLA2B Knockout HCT 116 Cell Line | EDJ-KQ41568 | Human | 654483 | Details Get a Quote |
| BOLA2B Knockout HeLa Cell Line | EDJ-KQ41569 | Human | 654483 | Details Get a Quote |
