NUBP2
Chr 16NUBP iron-sulfur cluster assembly factor 2, cytosolic
Also known as: CFD1, CIAO6, NBP 2
This protein is an ATP and metal-binding component of the cytosolic iron-sulfur protein assembly machinery, functioning as a heterotetramer with NUBP1 to transfer iron-sulfur clusters to target proteins and regulate cilium formation. Mutations cause autosomal recessive multiple mitochondrial dysfunctions syndrome, typically presenting in infancy with severe neurodegeneration, developmental delay, and multi-organ involvement. The gene shows tolerance to loss-of-function variants (pLI 0.0009), consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NUBP2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools