SDHB Chromosome 1
Succinate dehydrogenase complex iron sulfur subunit B
Upload your DNA to see your personal genotypes for variants in SDHB.
What This Gene Does
This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed of four nuclear-encoded subunits. This enzyme complex converts succinate to fumarate which releases electrons as part of the citric acid cycle, and the enzyme complex additionally provides an attachment site for released electrons to be transferred to the oxidative phosphorylation pathway. The SDH enzyme complex plays a role in oxygen-related gene regulation through its conversion of succinate, which is an oxygen sensor that stabilizes the hypoxia-inducible factor 1 (HIF1) transcription factor. Sporadic and familial mutations in this gene result in paragangliomas, pheochromocytoma, and gastrointestinal stromal tumors, supporting a link between mitochondrial dysfunction and tumorigenesis. Mutations in this gene are also implicated in nuclear type 4 mitochondrial complex II deficiency. [provided by RefSeq, Jun 2022]
Gene Info
Gene Group
Mitochondrial complex II: succinate dehydrogenase subunits
Locus Type
gene with protein product
Location
1p36.13
Ensembl
ENSG00000117118
Associated Conditions (31)
Pheochromocytoma/paraganglioma syndrome 4
Gastrointestinal stromal tumor
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Hereditary pheochromocytoma and paraganglioma
Carney-Stratakis syndrome
Cowden syndrome
Mitochondrial complex 2 deficiency
nuclear type 4
Hepatocellular carcinoma
Ovarian cancer
Mitochondrial complex II deficiency
nuclear type 1
Malignant tumor of breast
SDHB-related disorder
Ovarian serous cystadenocarcinoma
bilateral breast cancer
Melanoma
Inherited phaeochromocytoma and paraganglioma excluding NF1
Gastric cancer
+11 more conditions
Key Variants
RS1060503768
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor, Pheochromocytoma
Health Risk
RS1064794269
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
Health Risk
RS1064794664
Conflicting classifications of pathogenicity
Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
Health Risk
RS1131691051
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stromal tumor
Health Risk
RS1187293049
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor, Pheochromocytoma
Health Risk
RS1195530396
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor, Pheochromocytoma
Health Risk
RS1210181271
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stromal tumor
Health Risk
RS121917755
Conflicting classifications of pathogenicity
Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
Health Risk
RS1228560456
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor
Health Risk
RS1252798981
Conflicting classifications of pathogenicity
Pheochromocytoma, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
Health Risk
RS1307247907
Conflicting classifications of pathogenicity
Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor, Pheochromocytoma
Health Risk
RS1326601709
Conflicting classifications of pathogenicity
Pheochromocytoma, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4
Health Risk
All Variants (283)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2101528919 | Health Risk | Likely pathogenic | Pheochromocytoma, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4 |
| RS2524994962 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524994983 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2524995128 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma/paraganglioma syndrome 4 |
| RS2525008725 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor, Pheochromocytoma |
| RS2525018148 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma/paraganglioma syndrome 4 |
| RS2525060115 | Health Risk | Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS2525082757 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stromal tumor |
| RS528442805 | Health Risk | Likely pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4 |
| RS587781735 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS74315371 | Health Risk | Likely pathogenic | Pheochromocytoma/paraganglioma syndrome 4, Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4 |
| RS747518441 | Health Risk | Likely pathogenic | Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor |
| RS786203529 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor |
| RS864321638 | Health Risk | Likely pathogenic | Pheochromocytoma, Pheochromocytoma |
| RS864321639 | Health Risk | Likely pathogenic | Pheochromocytoma, Pheochromocytoma |
| RS876658540 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS876658713 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor |
| RS876659330 | Health Risk | Likely pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1045881797 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor |
| RS1060503751 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1060503752 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1060503753 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1060503757 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1060503759 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1060503762 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1060503763 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1060503764 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1060503767 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor, Pheochromocytoma |
| RS1064794270 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1131691047 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131691049 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma |
| RS1131691050 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1131691052 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary pheochromocytoma and paraganglioma, Gastrointestinal stromal tumor |
| RS1131691059 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS1131691061 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma |
| RS1209914140 | Health Risk | Pathogenic | Pheochromocytoma, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1351034939 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma, Gastrointestinal stromal tumor |
| RS1553177285 | Health Risk | Pathogenic | Pheochromocytoma, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1553177290 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Pheochromocytoma, Gastrointestinal stromal tumor |
| RS1553177436 | Health Risk | Pathogenic | Pheochromocytoma/paraganglioma syndrome 4, Gastrointestinal stromal tumor, Pheochromocytoma |
| RS1553177440 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1553177669 | Health Risk | Pathogenic | Pheochromocytoma, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1553177672 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS1553177676 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1553177677 | Health Risk | Pathogenic | Pheochromocytoma, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1553177678 | Health Risk | Pathogenic | Gastrointestinal stromal tumor, Pheochromocytoma, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1553177679 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS1553177687 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma |
| RS1553177739 | Health Risk | Pathogenic | Hereditary pheochromocytoma and paraganglioma, Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 4 |
| RS1553177741 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |