BOLA2B
BOLA Family Member 2B
Gene Information Card
| Symbol | BOLA2B |
|---|---|
| Full Name | BOLA Family Member 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 654483 ncbi.nlm.nih.gov/gene/654483 |
| Ensembl ID | ENSG00000204310 |
| UniProt ID | Q9H3K6 |
| OMIM ID | 613182 |
| HGNC ID | 33888 |
| Aliases | BOLA2, BOLA2A, BOLA2B |
Description
BOLA2B is a protein-coding gene located on chromosome 16p11.2. It belongs to the BOLA family and is involved in iron-sulfur (Fe-S) cluster biogenesis. The encoded protein interacts with monothiol glutaredoxins to facilitate Fe-S cluster transfer to target proteins. BOLA2B is highly similar to BOLA2A and is part of a segmental duplication region. Expression is observed in multiple tissues, with highest levels in testis and bone marrow.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Copy number variations (CNVs) in the 16p11.2 region, including BOLA2B, are associated with autism spectrum disorder and intellectual disability. The exact mechanism is unclear but may involve altered Fe-S cluster homeostasis. | PMID: 25217958, ClinVar |
| Iron metabolism disorders | Dysregulation of BOLA2B may impact cellular iron utilization and Fe-S cluster assembly, contributing to conditions like sideroblastic anemia. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Bone marrow | 12.8 | Medium |
| Liver | 8.5 | Low |
| Brain | 6.3 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.4 | Embryonic kidney cells |
| K562 | 14.7 | Leukemia cells |
| HepG2 | 9.2 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.001% | Unknown effect on protein function |
| c.100C>T | Nonsense | 0.0005% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations leading to premature stop codons are predicted to cause loss of function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • iron-sulfur cluster assembly | • protein binding |
| • metal ion binding | • cytosol |
| • nucleus |
Pathways
• Iron-sulfur cluster biogenesis
• Cellular response to iron
Protein Summary
The BOLA2B protein (UniProt Q9H3K6) is a small, 10.5 kDa protein containing a BOLA domain. It localizes to the cytosol and nucleus and participates in Fe-S cluster assembly by interacting with glutaredoxin 3 (GLRX3). This interaction is critical for delivering Fe-S clusters to apoproteins, influencing cellular iron homeostasis and redox regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| BOLA2B Knockout HEK293 Cell Line | EDJ-KQ11846 | Human | 654483 | 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 |
