The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
Transcription factors with Perturb-seq knockdown data for NDUFA2. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = NDUFA2 upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of NDUFA2, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr5:140,363,055–140,363,697 | 284.2 kb | Distal (>10kb) Multiome HiCAR | 542 | |
| chr5:140,372,779–140,373,538 | 274.5 kb | Distal (>10kb) Multiome | 302 | |
| chr5:140,400,395–140,402,925 | 246.1 kb | Distal (>10kb) Multiome | 1129 | |
| chr5:140,546,917–140,548,500 | 100.0 kb | Distal (>10kb) Multiome HiCAR | 784 | |
| chr5:140,556,971–140,557,959 | 90.2 kb | Distal (>10kb) Multiome HiCAR | 886 | |
| chr5:140,564,055–140,565,123 | 83.0 kb | Distal (>10kb) Multiome HiCAR | 827 | |
| chr5:140,639,043–140,640,146 | 8.2 kb | Proximal (<10kb) Multiome | 898 | |
| chr5:140,647,175–140,648,159 | 70 bp | At TSS Multiome | 863 | |
| chr5:140,664,368–140,665,161 | 17.1 kb | Distal (>10kb) Multiome | 856 | |
| chr5:140,673,200–140,673,759 | 25.9 kb | Distal (>10kb) Multiome | 144 | |
| chr5:140,691,053–140,691,933 | 43.9 kb | Distal (>10kb) Multiome | 924 | |
| chr5:140,699,981–140,700,742 | 52.7 kb | Distal (>10kb) Multiome | 607 | |
| chr5:140,710,433–140,711,671 | 63.4 kb | Distal (>10kb) Multiome | 856 | |
| chr5:140,718,340–140,718,978 | 71.0 kb | Distal (>10kb) Multiome | 763 | |
| chr5:140,725,570–140,726,438 | 78.3 kb | Distal (>10kb) Multiome | 719 | |
| chr5:140,925,961–140,927,592 | 278.9 kb | Distal (>10kb) Multiome | 419 |
Genomic view of the NDUFA2 locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.