BOLA2B

Chr 16

bolA family member 2B

NCBI Gene: 654483 ENSG00000169627 UniProt: Q9H3K6

BOLA2B encodes a cytosolic iron-sulfur cluster assembly factor that facilitates insertion of [2Fe-2S] clusters into cytosolic proteins, working together with the monothiol glutaredoxin GLRX3. This gene is located within a segmental duplication on chromosome 16 and is identical to BOLA2, but no specific human diseases have been established for BOLA2B mutations in the provided data. The inheritance pattern and clinical phenotypes associated with BOLA2B variants remain to be determined.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Multiplemechanism

Clinical Summary— BOLA2B

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ClinVar Variants

1 VUS of 1 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

This gene — mechanism propensity

0.7229th %ile

GOF

0.6735th %ile

LOF

0.2774th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

1 submitted variants in ClinVar

ClinVar

Classification Summary

VUS1

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	—	—	—	—	0
Likely Pathogenic	—	—	—	—	0
VUS	—	—	—	—	1
Likely Benign	—	—	—	—	0
Benign	—	—	—	—	0
Total	—				1

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

91 pathogenic / likely-pathogenic (of 100) ClinVar copy-number / structural variants overlap BOLA2B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →