HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
SDHB
succinate dehydrogenase complex iron sulfur subunit B
Chromosome 1 Β· 1p36.13
NCBI Gene: 6390Ensembl: ENSG00000117118.12HGNC: HGNC:10681UniProt: A0AAQ5BHD9
334PubMed Papers
23Diseases
0Drugs
294Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTransporter
RESEARCH IMPACT
Highly StudiedVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
respiratory chain complex II (succinate dehydrogenase)mitochondrionprotein bindingsuccinate dehydrogenase (quinone) activitypheochromocytoma/paraganglioma syndrome 4Carney-Stratakis syndromemitochondrial complex 2 deficiency, nuclear type 4pheochromocytoma
✦AI Summary

SDHB encodes the iron-sulfur subunit of succinate dehydrogenase (SDH), a mitochondrial respiratory chain complex II enzyme responsible for transferring electrons from succinate to ubiquinone during aerobic respiration 12. This catalytic function is essential for both oxidative phosphorylation and the tricarboxylic acid cycle. Pathogenic SDHB variants cause loss of SDH function, leading to succinate accumulation and pseudohypoxia, activating hypoxia signaling pathways that promote tumor growth and metastasis 3. SDHB mutations are the most frequent genetic cause of inherited pheochromocytomas and paragangliomas (PPGLs), with cumulative tumor penetrance of approximately 24% by age 60 in carriers 4. SDHB-associated tumors are notably aggressive, with higher rates of metastasis, malignancy, and dopamine-only secretion compared to other hereditary subtypes, enabling subclinical growth 35. Loss of SDHB immunoreactivity predicts metastatic disease in PPGLs 6. Additionally, SDHB mutations cause succinate dehydrogenase-deficient gastrointestinal stromal tumors (approximately 10% of gastric GISTs) that are resistant to standard imatinib therapy 7. Loss of SDHB methylation and elevated expression correlates with recurrent spontaneous abortion risk through dysregulation of trophoblast function 8.

Sources cited
1
SDHB transfers electrons from succinate to ubiquinone in respiratory chain complex II
PMID: 26925370
2
SDHB iron-sulfur protein function in electron transfer to ubiquinone
PMID: 27604842
3
SDHB mutations cause succinate accumulation, pseudohypoxia, and aggressive metastatic PPGLs with highest disease morbidity/mortality among hereditary types
PMID: 38097671
4
Cumulative tumor risk for SDHB mutation carriers is 23.9% by age 60 and 30.6% by age 80; SDHB is most frequent cause of inherited PPGLs
PMID: 29386252
5
SDHB germline mutations associated with metastatic paragangliomas in >10% of patients at diagnosis
PMID: 21167381
6
Loss of SDHB immunoreactivity in 77% of metastatic PPGLs predicts malignant disease
PMID: 24521857
7
SDH-deficient GISTs constitute ~10% of gastric GISTs and are resistant to imatinib therapy
PMID: 31169996
8
Altered SDHB methylation and expression correlate with recurrent spontaneous abortion through trophoblast dysfunction
PMID: 34103526
Disease Associationsβ“˜23
pheochromocytoma/paraganglioma syndrome 4Open Targets
0.82Strong
Carney-Stratakis syndromeOpen Targets
0.79Strong
mitochondrial complex 2 deficiency, nuclear type 4Open Targets
0.78Strong
pheochromocytomaOpen Targets
0.78Strong
gastrointestinal stromal tumorOpen Targets
0.75Strong
hereditary pheochromocytoma-paragangliomaOpen Targets
0.71Strong
adrenal gland pheochromocytomaOpen Targets
0.58Moderate
hereditary neoplastic syndromeOpen Targets
0.57Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.57Moderate
ParagangliomaOpen Targets
0.47Moderate
Cowden diseaseOpen Targets
0.42Moderate
mitochondrial complex II deficiency, nuclear type 1Open Targets
0.40Weak
hemangioblastomaOpen Targets
0.38Weak
neurodegenerative diseaseOpen Targets
0.37Weak
mitochondrial diseaseOpen Targets
0.37Weak
breast ductal adenocarcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
Prostate Small Cell CarcinomaOpen Targets
0.37Weak
renal cell carcinomaOpen Targets
0.37Weak
Mitochondrial complex II deficiency, nuclear type 4UniProt
Paraganglioma and gastric stromal sarcomaUniProt
Pheochromocytoma/paraganglioma syndrome 4UniProt
Pathogenic Variants294
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Pheochromocytoma|Pheochromocytoma/paraganglioma syndrome 4
β˜…β˜…β˜†β˜†2026β†’ Residue 96
NM_003000.3(SDHB):c.287-1G>CPathogenic
Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4|Pheochromocytoma;Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4|not provided
β˜…β˜…β˜†β˜†2026
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)Pathogenic
Pheochromocytoma;Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4|not provided|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4
β˜…β˜…β˜†β˜†2026β†’ Residue 47
NM_003000.3(SDHB):c.72+1G>TPathogenic
Carney-Stratakis syndrome|Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma;Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|not specified|Gastrointestinal stromal tumor|Pheochromocytoma/paraganglioma syndrome 4|SDHB-related disorder|Inherited phaeochromocytoma and paraganglioma excluding NF1
β˜…β˜…β˜†β˜†2026
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)Likely pathogenic
not provided|Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Pheochromocytoma|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 263
NM_003000.3(SDHB):c.725G>A (p.Arg242His)Pathogenic
Pheochromocytoma/paraganglioma syndrome 4|Gastrointestinal stromal tumor|Hereditary cancer-predisposing syndrome|not provided|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Pheochromocytoma|SDHB-related disorder|Mitochondrial complex 2 deficiency, nuclear type 4|Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4
β˜…β˜…β˜†β˜†2026β†’ Residue 242
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4|Pheochromocytoma/paraganglioma syndrome 4|Gastrointestinal stromal tumor|Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4
β˜…β˜…β˜†β˜†2026β†’ Residue 192
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma;Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma/paraganglioma syndrome 4|Gastrointestinal stromal tumor|SDHB-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 46
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|SDHB-related disorder|Pheochromocytoma|Gastrointestinal stromal tumor|Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4|Inherited renal cancer|Inherited phaeochromocytoma and paraganglioma excluding NF1
β˜…β˜…β˜†β˜†2026β†’ Residue 46
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|not provided|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|Pheochromocytoma/paraganglioma syndrome 4
β˜…β˜…β˜†β˜†2026β†’ Residue 230
NM_003000.3(SDHB):c.689G>A (p.Arg230His)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Gastrointestinal stromal tumor;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma/paraganglioma syndrome 4|Pheochromocytoma;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4|Mitochondrial complex 2 deficiency, nuclear type 4|Gastrointestinal stromal tumor|Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4|Inherited phaeochromocytoma and paraganglioma excluding NF1
β˜…β˜…β˜†β˜†2026β†’ Residue 230
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4|Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor|not provided|Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4;Carney-Stratakis syndrome|Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor
β˜…β˜…β˜†β˜†2026β†’ Residue 214
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)Pathogenic
Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4|not provided|Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor|Pheochromocytoma/paraganglioma syndrome 4|Inherited phaeochromocytoma and paraganglioma excluding NF1|Melanoma
β˜…β˜…β˜†β˜†2026β†’ Residue 96
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)Pathogenic
Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|not provided|Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|SDHB-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 104
NM_003000.3(SDHB):c.201-2A>CPathogenic
Gastrointestinal stromal tumor;Pheochromocytoma;Pheochromocytoma/paraganglioma syndrome 4|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4
β˜…β˜…β˜†β˜†2026
NM_003000.3(SDHB):c.423+1G>CPathogenic
Carney-Stratakis syndrome|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Pheochromocytoma
β˜…β˜…β˜†β˜†2026
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)Pathogenic
Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|not provided|Hereditary cancer-predisposing syndrome|Pheochromocytoma/paraganglioma syndrome 4;Gastrointestinal stromal tumor;Pheochromocytoma|Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|Von Hippel-Lindau syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 90
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)Pathogenic
Hereditary cancer-predisposing syndrome|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|not specified|Pheochromocytoma|Pheochromocytoma/paraganglioma syndrome 4|not provided|Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|Gastrointestinal stromal tumor|SDHB-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 56
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)Pathogenic
Hereditary cancer-predisposing syndrome|Carney triad|Gastrointestinal stromal tumor;Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma|not provided|Pheochromocytoma/paraganglioma syndrome 4|Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor;Hereditary pheochromocytoma and paraganglioma|Gastrointestinal stromal tumor|Gastrointestinal stromal tumor;Mitochondrial complex 2 deficiency, nuclear type 4;Carney-Stratakis syndrome;Pheochromocytoma/paraganglioma syndrome 4|Inherited phaeochromocytoma and paraganglioma excluding NF1
β˜…β˜…β˜†β˜†2026β†’ Residue 127
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)Pathogenic
Renal neoplasm|Pheochromocytoma/paraganglioma syndrome 4;Pheochromocytoma;Gastrointestinal stromal tumor|Pheochromocytoma/paraganglioma syndrome 4|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜†β˜†2026β†’ Residue 191
View on ClinVar β†—
Related Genes
FAHProtein interaction100%GPD2Protein interaction100%UQCRFS1Protein interaction100%NDUFV1Protein interaction100%COX5BProtein interaction100%UQCRC2Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
77%
Brain
30%
Lung
26%
Bone Marrow
18%
Ovary
15%
Gene Interaction Network
Click a node to explore
SDHBFAHGPD2UQCRFS1NDUFV1COX5BUQCRC2
PROTEIN STRUCTURE
Preparing viewer…
PDB8GS8 Β· 2.86 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.74LoF Tolerant
pLIβ“˜
0.03Tolerant
Observed/Expected LoF0.48 [0.32–0.74]
RankingsWhere SDHB stands among ~20K protein-coding genes
  • #972of 20,598
    Most Researched334 Β· top 5%
  • #210of 5,498
    Most Pathogenic Variants294 Β· top 5%
  • #5,831of 17,882
    Most Constrained (LOEUF)0.74
Genes detectedSDHB
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.
PMID: 31169996
Arch Pathol Lab Med Β· 2020
1.00
2
Pathological grading for predicting metastasis in phaeochromocytoma and paraganglioma.
PMID: 24521857
Endocr Relat Cancer Β· 2014
0.90
3
Low chorionic villous succinate accumulation associates with recurrent spontaneous abortion risk.
PMID: 34103526
Nat Commun Β· 2021
0.80
4
Long-term in vitro 2D-culture of SDHB and SDHD-related human paragangliomas and pheochromocytomas.
PMID: 36178902
PLoS One Β· 2022
0.72
5
Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement.
PMID: 38097671
Nat Rev Endocrinol Β· 2024
0.70