The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for NDUFV2. 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 = NDUFV2 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 NDUFV2, 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 |
|---|---|---|---|---|
| chr18:8,937,255–8,938,296 | 165.0 kb | Distal (>10kb) Multiome | 208 | |
| chr18:9,102,098–9,103,261 | 51 bp | At TSS Multiome | 815 | |
| chr18:9,106,879–9,107,161 | 4.2 kb | Proximal (<10kb) | 93 | |
| chr18:9,135,781–9,137,908 | 34.7 kb | Distal (>10kb) Multiome | 1018 | |
| chr18:9,264,819–9,265,280 | 162.4 kb | Distal (>10kb) Multiome | 49 | |
| chr18:9,333,728–9,335,352 | 231.9 kb | Distal (>10kb) Multiome | 738 |
Genomic view of the NDUFV2 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.