Entity Details

Primary name SDHAF2
Entity type gene
Source Source Link

Details

PrimaryID54949
RefseqGeneNG_023393
SymbolSDHAF2
Namesuccinate dehydrogenase complex assembly factor 2
Chromosome11
Location11q12.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2000-07-03
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsSDHF2_HUMAN

GO terms

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GOName
GO:0005730 nucleolus
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0005829 cytosol
GO:0006099 tricarboxylic acid cycle
GO:0006121 mitochondrial electron transport, succinate to ubiquinone
GO:0006470 protein dephosphorylation
GO:0010719 negative regulation of epithelial to mesenchymal transition
GO:0018293 protein-FAD linkage
GO:0034553 mitochondrial respiratory chain complex II assembly
GO:0090090 negative regulation of canonical Wnt signaling pathway

Diseases

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Disease IDSourceNameDescription
601650 OMIMParagangliomas 2 (PGL2)A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear. The disease is caused by variants affecting the gene represented in this entry.