ISCA2 (Iron-sulfur cluster assembly 2 homolog, mitochondrial) variants and mutations

ISCA2 (also known as Iron-sulfur cluster assembly 2 homolog, mitochondrial) is a human protein-coding gene encoding an iron-sulfur cluster assembly 2 homolog, mitochondrial protein. Its annotated function is involved in the maturation of mitochondrial 4Fe-4S proteins functioning late in the iron-sulfur cluster assembly pathway. May be involved in the binding of an intermediate of Fe/S cluster assembly. It is annotated at the mitochondrion. This analysis covers 473 ISCA2 variants and mutations. Of these, 90% have computational variant effect predictions. Disease context includes multiple mitochondrial dysfunctions syndrome 4, optic atrophy, and neurodegenerative disease. Example ISCA2 variants include A2D, A2V, and A2T.

Variant analysis overview

Gene: ISCA2
Protein: Iron-sulfur cluster assembly 2 homolog, mitochondrial
UniProt accession: Q86U28
Organism: Homo sapiens
Variants analyzed: 473
Variant scope: all variants
Completed: 2026-09-24

Variant and mutation evidence

Variant composition: 196 unspecified-consequence records; 171 missense variants; 74 synonymous variants; 23 frameshift variants; 6 in-frame deletions; 4 splice-region variants; 4 stop-gained variants; 2 in-frame insertions; 1 substitution
Prediction scores: 424 variants have prediction scores (90% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: multiple mitochondrial dysfunctions syndrome 4, optic atrophy, neurodegenerative disease, hereditary disease, mitochondrial disease, hereditary optic atrophy, Leber hereditary optic neuropathy, multiple mitochondrial dysfunctions syndrome 2, fatal multiple mitochondrial dysfunctions syndrome, Failure to thrive, Global developmental delay, Neurodegeneration.

Protein structure and variant hotspots

Protein features: 3 binding sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ISCA2 variants

Examples include A2D, A2V, A2T, A2S, A2A, A3S, A3T, A3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

ISCA2 analysis run — ISCA2 (473 variants) — completed 2026-09-24