BOLA2

Chr 16

bolA family member 2

Also known as: BOLA2A, My016

NCBI Gene: 552900 ENSG00000183336 UniProt: Q9H3K6 OMIM: 613182

BOLA2 encodes a cytosolic iron-sulfur cluster assembly factor that facilitates [2Fe-2S] cluster insertion into cytosolic proteins, working together with the monothiol glutaredoxin GLRX3. Mutations cause multiple mitochondrial dysfunctions syndrome 2, an autosomal recessive disorder characterized by early-onset mitochondrial dysfunction affecting multiple organ systems. The gene is located within a segmental duplication region on chromosome 16 and has high sequence similarity to BOLA2B.

OMIM ResearchSummary from RefSeq, UniProt

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]

OMIM ResearchGenerating clinical summary…

Clinical Summary— BOLA2

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ClinVar Variants

1 total variants — no pathogenic classifications of 1 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

1 submitted variants in ClinVar

ClinVar

Classification Summary

Benign1

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Synonymous	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	0	0
Likely Benign	0	0
Benign	1	1
Total	1	1

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

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77 pathogenic / likely-pathogenic (of 89) ClinVar copy-number / structural variants overlap BOLA2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →