InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SDHAF2

Summary

InnateDB Protein

IDBP-50168.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SDHAF2

Protein Name

succinate dehydrogenase complex assembly factor 2

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000301761

InnateDB Gene

IDBG-50166 (SDHAF2)

Protein Structure

UniProt Annotation

Function

Required for insertion of FAD cofactor into SDHA, the catalytic subunit of succinate dehydrogenase (SDH). SDH is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). In is unclear whether it participates in the chemistry of FAD attachment (enzymatic function) or acts as a chaperone that maintains SDHA in a conformation that is susceptible to autocatalytic FAD attachment. {ECO:0000255HAMAP- Rule:MF_03057, ECO:0000269PubMed:19628817}.

Subcellular Localization

Mitochondrion {ECO:0000255HAMAP- Rule:MF_03057, ECO:0000269PubMed:19628817}.

Disease Associations

Paragangliomas 2 (PGL2) [MIM:601650]: 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. {ECO:0000269PubMed:19628817}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 19 experimentally validated interaction(s) in this database.

Experimentally validated
Total	19 [view]
Protein-Protein	19 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

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:0090090	negative regulation of canonical Wnt signaling pathway