SDHB - succinate dehydrogenase complex iron sulfur subunit B Gene
Also Known as IP; SDH; CWS2; PGL4; SDH1; SDH2; SDHIP; MC2DN4
Species: Homo sapiens
About SDHB
This gene has 8 transcripts (splice variants), 282 orthologues and is associated with 68 phenotypes. Ubiquitous expression in heart (RPKM 84.5), kidney (RPKM 76.7) and 25 other tissues.
Summary
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]
SDHB Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001407361.1 | NP_001394290.1 | succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 2 |
| NM_003000.3 | NP_002991.2 | succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15961414 | GOA |
| enables succinate dehydrogenase (quinone) activity |
IMP
IMP: Inferred from mutant phenotype
|
26925370 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of respiratory chain complex II (succinate dehydrogenase) |
IDA
IDA: Inferred from direct assay
|
37098072 | GOA |
SDHB Protein Structure
Fer2_3: 2Fe-2S iron-sulfur cluster binding domain (41 - 147)
Fer4_17: 4Fe-4S dicluster domain (185 - 258)
- 0
- 100
- 200
- 280 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial |
|
SDHB Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SDHB | P21912 | ISCU | Homo sapiens | Q9H1K1 | 24606901 | |
|
Intra
|
SDHB | P21912 | ISCU | Homo sapiens | Q9H1K1 | 24606901 | |
|
Intra
|
SDHB | P21912 | ISCU | Homo sapiens | Q9H1K1 | 26749241 | |
|
Intra
|
SDHB | P21912 | SDHA | Homo sapiens | P31040 | 24606901 | |
|
Intra
|
SDHB | P21912 | SDHA | Homo sapiens | P31040 | 24606901 | |
|
Intra
|
SDHB | P21912 | SDHA | Homo sapiens | P31040 | 19688755 | |
|
Intra
|
SDHB | P21912 | SDHA | Homo sapiens | P31040 | 26749241 | |
|
Intra
|
SDHB | P21912 | SDHAF1 | Homo sapiens | A6NFY7 | 24606901 | |
|
Intra
|
SDHB | P21912 | SDHAF1 | Homo sapiens | A6NFY7 | 26749241 | |
|
Intra
|
SDHB | P21912 | SDHAF1 | Homo sapiens | A6NFY7 | 24606901 | |
|
Intra
|
SDHB | P21912 | HSCB | Homo sapiens | Q8IWL3 | 26749241 | |
|
Intra
|
SDHB | P21912 | HSCB | Homo sapiens | Q8IWL3 | 24606901 | |
|
Intra
|
SDHB | P21912 | HSCB | Homo sapiens | Q8IWL3 | 24606901 |
SDHB Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81835 | SDHB Antibody (YA1580) | WB, IHC-P, IP, FC | Human, Mouse, Rat |
| HY-P84184 | SDHB Antibody (YA3881) | IHC-P, FC, ELISA | Human |
| HY-P84184A | SDHB Antibody (YA3881)(PBS only) | IHC-P, FC, ELISA | Human |
| HY-P86391 | SDHB Antibody (YA6083) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Paragangliomas 4 |
|
|
| Pheochromocytoma |
|
|
| Paraganglioma And Gastric Stromal Sarcoma |
|
|
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Paraganglioma |
|
|
| Hereditary Paraganglioma-Pheochromocytoma Syndromes |
|
|
| Cowden Syndrome |
|
|
| Paragangliomas 1 |
|
|
| Cowden Syndrome 1 |
|
|
| Mitochondrial Complex Ii Deficiency |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Carney Triad |
|
|
| Neurofibromatosis |
|
|
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
|
| Multiple Endocrine Neoplasia |
|
|
| Von Hippel-Lindau Syndrome |
|
|
| Nonsyndromic Paraganglioma |
|
|
| Chondroma |
|
|
| Glomus Tumor |
|
|
| Persistent Generalized Lymphadenopathy |
|
|
| Hereditary Leiomyomatosis And Renal Cell Cancer |
|
|
| Neurofibromatosis, Type I |
|
|
| Malignant Pheochromocytoma |
|
|
| Adrenal Medulla Cancer |
|
|
| Extra-Adrenal Pheochromocytoma |
|
|
| Multiple Endocrine Neoplasia, Type Iia |
|
|
| Chronic Progressive External Ophthalmoplegia |
|
|
| Leigh Syndrome |
|
|
| Neural Crest Tumor |
|
|
| Leiomyomatosis |
|
|
| Kearns-Sayre Syndrome |
|
|
| Lymph Node Disease |
|
|
| Endocrine Organ Benign Neoplasm |
|
|
| Gastric Leiomyosarcoma |
|
|
| Mitochondrial Myopathy |
|
|
| Multiple Endocrine Neoplasia, Type I |
|
|
| Kidney Cancer |
|
|
| Myoglobinuria |
|
|
| Early Myoclonic Encephalopathy |
|
|
| Carotid Body Cancer |
|
|
| Adrenal Carcinoma |
|
|
| Hereditary Renal Cell Carcinoma |
|
|
| Dystonia |
|
|
| Neurohypophysis Granular Cell Tumor |
|
|
| Spastic Quadriplegia |
|
|
| Renal Oncocytoma |
|
|
| Disseminated Chorioretinitis |
|
|
| Cowden Syndrome 4 |
|
|
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
|
| Multiple Endocrine Neoplasia, Type Iib |
|
|
| Peripheral Nervous System Benign Neoplasm |
|
|
| Autonomic Nervous System Benign Neoplasm |
|
|
| Cerebral Angioma |
|
|
| Renal Cell Carcinoma, Nonpapillary |
|
|
| Leiomyoma Cutis |
|
|
| Dermis Tumor |
|
|
| Quadriplegia |
|
|
| Horner'S Syndrome |
|
|
| Cardiovascular Organ Benign Neoplasm |
|
|
| Birt-Hogg-Dube Syndrome |
|
|
| Familial Renal Papillary Carcinoma |
|
|
| Fumarase Deficiency |
|
|
| Thyroid Gland Cancer |
|
|
| Myopathy |
|
|
| Kidney Benign Neoplasm |
|
|
| Cranial Nerve Palsy |
|
|
| 46,Xy Sex Reversal 9 |
|
|
| Ciliary Dyskinesia, Primary, 30 |
|
|
| Cleft Palate, Cardiac Defects, And Mental Retardation |
|
|
| Lactic Acidosis |
|
|
| Spastic Paraplegia 38, Autosomal Dominant |
|
|
| Carney Complex Variant |
|
|
| Gastric Liposarcoma |
|
|
| Neuroblastoma |
|
|
| Scoliosis |
|
|
| Renal Cell Carcinoma, Papillary, 1 |
|
|
| Hypertension, Essential |
|
|
| Type 2 Diabetes Mellitus |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | SDHB | VGNC | VGNC:45951 |
| Mus musculus | SDHB | MGD | MGI:1914930 |
| Felis catus | SDHB | VGNC | VGNC:80353 |
| Bos taurus | SDHB | VGNC | VGNC:34391 |
| Rattus norvegicus | SDHB | RGD | RGD:1308598 |
| Macaca mulatta | SDHB | VGNC | VGNC:77001 |
| Others | SDHB | NCBI |