This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
Transcription factors with Perturb-seq knockdown data for SDHD. 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 = SDHD 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 SDHD, 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 |
|---|---|---|---|---|
| chr11:111,870,839–111,871,692 | 215.6 kb | Distal (>10kb) Multiome | 781 | |
| chr11:111,878,459–111,879,798 | 207.7 kb | Distal (>10kb) Multiome | 970 | |
| chr11:111,918,534–111,919,259 | 167.9 kb | Distal (>10kb) Multiome | 468 | |
| chr11:111,926,372–111,927,689 | 159.7 kb | Distal (>10kb) Multiome | 767 | |
| chr11:111,936,752–111,938,016 | 149.6 kb | Distal (>10kb) Multiome | 671 | |
| chr11:111,960,703–111,961,374 | 125.8 kb | Distal (>10kb) Multiome | 192 | |
| chr11:111,976,357–111,978,029 | 109.6 kb | Distal (>10kb) Multiome | 293 | |
| chr11:111,982,641–111,983,482 | 103.5 kb | Distal (>10kb) Multiome | 290 | |
| chr11:112,024,495–112,025,893 | 61.7 kb | Distal (>10kb) Multiome | 1024 | |
| chr11:112,073,749–112,074,754 | 12.6 kb | Distal (>10kb) Multiome | 828 | |
| chr11:112,086,268–112,087,320 | 40 bp | At TSS Multiome | 883 | |
| chr11:112,225,928–112,226,959 | 139.7 kb | Distal (>10kb) Multiome | 809 | |
| chr11:112,289,677–112,290,832 | 203.4 kb | Distal (>10kb) Multiome | 568 |
Genomic view of the SDHD 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.