SDHB Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | SDHB |
| Official Name | succinate dehydrogenase complex iron sulfur subunit B [Source:HGNC Symbol;Acc:HGNC:10681] |
| Ensembl ID | ENSG00000117118 |
| Bio databases IDs | |
| Aliases | succinate dehydrogenase complex iron sulfur subunit B, iron-sulfur subunit of complex II, succinate dehydrogenase [ubiquinone] iron-sulfur subunit |
| Synonyms | 0710008N11Rik, CII-30, CII - 30 (Fe S), CWS2, Electron-transfer-flavoprotein, beta polypeptide, Electron-transfer-flavoprotein, β polypeptide, IP, MC2DN4, PCHC, PGL4, PPGL4, SDH, SDH1, SDH2, SDH30, SDHIP, succinate dehydrogenase complex iron sulfur subunit B, succinate dehydrogenase complex iron sulphur subunit B, Succinate dehydrogenase complex subunit B, succinate dehydrogenase complex, subunit B, iron sulfur (Ip), succinate dehydrogenase complex, subunit B, iron sulphur (Ip), Succinate Dehydrogenase Cytochrome B Subunit, Succinate Dehydrogenase lp Cytochrome B Subunit, Succinate dehydrogenase putative iron sulfur subunit, Succinate dehydrogenase putative iron sulphur subunit, SUHB |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human SDHB often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 4Fe-4S dicluster domain
- fer2
- binding protein
- ubiquinone binding
- succinate dehydrogenase and fumarate reductase iron-sulfur protein
- 2Fe-2S iron-sulfur cluster binding domain
- enzyme
- protein binding
- succinate dehydrogenase (ubiquinone)
- succinate dehydrogenase
Pathways
Biological processes and signaling networks where the SDHB gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial neoplasia
- abdominal cancer
- cancer
- epithelial cancer
- gastrointestinal stromal neoplasia
- hereditary cancer-predisposing syndrome
- hereditary paraganglioma-pheochromocytoma syndrome
- Huntington disease
- extra-adrenal paraganglioma formation
- paraganglioma formation
role in cell
- expression in
- production in
- proliferation
- growth
- phosphorylation in
- cell death
- survival
- invasiveness
- downregulation in
- hypermethylation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- pH resistant lipid raft fraction
- Plasma Membrane
- Mitochondria
- cytosol
- mitochondrial matrix
- mitochondrial inner membrane
- nucleoplasm
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SDHB gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- respiratory electron transport chain
- mitochondrial electron transport, succinate to ubiquinone
- tricarboxylic acid cycle
- aerobic respiration
- mitochondrial ATP synthesis coupled proton transport
Cellular Component
Where in the cell the gene product is active
- respiratory chain complex II
- mitochondrial membrane
- mitochondrion
- plasma membrane
- mitochondrial inner membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- succinate dehydrogenase (ubiquinone) activity
- metal ion binding
- electron carrier activity
- 3 iron, 4 sulfur cluster binding
- ubiquinone binding
- 4 iron, 4 sulfur cluster binding
- 2 iron, 2 sulfur cluster binding