SDHAF2 Gene Summary [Human]
This gene encodes a mitochondrial assembly factor needed for the flavination of a succinate dehydrogenase complex subunit (SDHA), which is required for activity of the succinate dehydrogenase complex. Mutations in this gene are associated with paraganglioma. [provided by RefSeq, May 2022]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | SDHAF2 |
| Official Name | succinate dehydrogenase complex assembly factor 2 [Source:HGNC Symbol;Acc:HGNC:26034] |
| Ensembl ID | ENSG00000167985 |
| Bio databases IDs | |
| Aliases | succinate dehydrogenase complex assembly factor 2 |
| Synonyms | 0610038F07Rik, C11orf79, hSDH5, PGL2, PPGL2, RGD1309216, SDH5, succinate dehydrogenase complex assembly factor 2 |
| 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 SDHAF2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Flavinator of succinate dehydrogenase
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary cancer-predisposing syndrome
- hereditary paraganglioma-pheochromocytoma syndrome
- paragangliomas type 2
- paraganglioma formation
- familial neoplasia
- paraganglioma
- ovarian cancer
- nonalcoholic steatohepatitis
- hereditary paraganglioma
- pheochromocytoma
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
- Mitochondria
- cytosol
- nucleoli
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human SDHAF2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of canonical Wnt receptor signaling pathway
- protein-FAD linkage
- negative regulation of epithelial to mesenchymal transition
- protein dephosphorylation
- mitochondrial electron transport, succinate to ubiquinone
- tricarboxylic acid cycle
- mitochondrial respiratory chain complex II assembly
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- cytosol
- nucleolus
Molecular Function
What the gene product does at the molecular level
- protein binding