The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for NDUFS2. 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 = NDUFS2 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 NDUFS2, 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 |
|---|---|---|---|---|
| chr1:160,910,331–160,911,177 | 291.7 kb | Distal (>10kb) Multiome | 97 | |
| chr1:160,947,055–160,947,669 | 255.0 kb | Distal (>10kb) Multiome | 35 | |
| chr1:160,948,561–160,949,851 | 252.9 kb | Distal (>10kb) Multiome | 173 | |
| chr1:160,981,323–160,982,552 | 220.6 kb | Distal (>10kb) Multiome | 156 | |
| chr1:161,020,536–161,021,920 | 181.1 kb | Distal (>10kb) Multiome | 846 | |
| chr1:161,038,489–161,039,130 | 163.4 kb | Distal (>10kb) Multiome | 468 | |
| chr1:161,045,080–161,046,516 | 156.4 kb | Distal (>10kb) Multiome | 927 | |
| chr1:161,097,691–161,099,047 | 104.1 kb | Distal (>10kb) Multiome | 829 | |
| chr1:161,117,504–161,118,419 | 84.3 kb | Distal (>10kb) Multiome | 794 | |
| chr1:161,131,760–161,133,351 | 69.7 kb | Distal (>10kb) Multiome | 956 | |
| chr1:161,153,700–161,154,461 | 48.3 kb | Distal (>10kb) Multiome | 816 | |
| chr1:161,158,928–161,160,167 | 42.9 kb | Distal (>10kb) Multiome | 706 | |
| chr1:161,165,740–161,167,170 | 36.0 kb | Distal (>10kb) Multiome | 888 | |
| chr1:161,176,874–161,177,972 | 24.9 kb | Distal (>10kb) Multiome | 910 | |
| chr1:161,192,587–161,192,817 | 9.5 kb | Proximal (<10kb) | 216 | |
| chr1:161,198,215–161,199,209 | 3.8 kb | Proximal (<10kb) Multiome | 357 | |
| chr1:161,201,572–161,202,783 | 38 bp | At TSS Multiome | 852 | |
| chr1:161,209,861–161,210,115 | 7.5 kb | Proximal (<10kb) | 356 | |
| chr1:161,225,326–161,226,910 | 23.5 kb | Distal (>10kb) Multiome | 710 | |
| chr1:161,227,235–161,227,802 | 25.2 kb | Distal (>10kb) Multiome | 372 | |
| chr1:161,258,515–161,259,098 | 56.4 kb | Distal (>10kb) Multiome | 281 | |
| chr1:161,305,737–161,306,708 | 103.9 kb | Distal (>10kb) Multiome | 430 | |
| chr1:161,313,977–161,314,703 | 112.0 kb | Distal (>10kb) Multiome HiCAR | 824 | |
| chr1:161,389,675–161,390,784 | 187.8 kb | Distal (>10kb) Multiome HiCAR | 866 | |
| chr1:161,399,098–161,400,259 | 197.3 kb | Distal (>10kb) Multiome HiCAR | 1040 |
Genomic view of the NDUFS2 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.