SDHAF2

Also known as C11orf79, PGL2, SDH5, succinate dehydrogenase complex assembly factor 2

Succinate dehydrogenase complex assembly factor 2, formerly known as SDH5 and also known as SDH assembly factor 2 or SDHAF2 is a protein that in humans is encoded by the SDHAF2 gene. This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with pheochromocytoma and paraganglioma.

Gene data

SDHAF2

Name: succinate dehydrogenase complex assembly factor 2
Type: protein-coding
Position: 61,430,032–61,473,614 (+)
Aliases: C11orf79, PGL2, PPGL2, SDH5, hSDH5
Ensembl: ENSG00000167985
RefSeq RNA: NM_017841.4
RefSeq protein: NP_060311.1

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].

Gene Ontology

Biological process

tricarboxylic acid cycle mitochondrial electron transport, succinate to ubiquinone mitochondrial electron transport, succinate to ubiquinone protein dephosphorylation negative regulation of epithelial to mesenchymal transition negative regulation of epithelial to mesenchymal transition protein-FAD linkage mitochondrial respiratory chain complex II assembly

Molecular function

protein binding

Cellular component

mitochondrion mitochondrion mitochondrion mitochondrion mitochondrial matrix mitochondrial matrix

Pathways

Aerobic respiration and respiratory electron transport Metabolism Citric acid cycle (TCA cycle)Maturation of TCA enzymes and regulation of TCA cycle Mitochondrial CII Assembly

via MyGene.info

Gene · Ensembl

succinate dehydrogenase complex assembly factor 2

Symbol: SDHAF2
Biotype: Protein coding
Organism: Homo sapiens
Location: 11:61,430,032-61,473,614
Strand: Forward (+)
Assembly: GRCh38

View on Ensembl →

via Ensembl · EMBL-EBI

Wikidata facts

Instance of: gene

Show 7 more facts

HomoloGene ID: 32370
found in taxon: Homo sapiens
exact match: identifiers.org/ncbigene/54949
chromosome: human chromosome 11
genomic start: 61196692
genomic end: 61446733
cytogenetic location: 11q12.2

Sources (6)

via Wikidata · CC0

~3 min read

Encyclopedic overview

6 sections

Contents

Structure
Function
Clinical significance
Interactions
References
Further reading

== Structure == SDHAF2 is located on the q arm of chromosome 11 in position 12.2 and spans 16,642 base pairs. The SDHAF2 gene produces a 6.7 kDa protein composed of 65 amino acids. This highly conserved protein is a cofactor of flavin adenine dinucleotide (FAD). The structure represents a five-helix bundle with a region of well-defined conserved surface residues. This conserved region includes a negatively charged periphery and a positively charged surface, and a patch that is hydrophobic. The region is located in α-helices I, II, and the connecting band.

Excerpted from Wikipedia’s “SDHAF2” article, available under the CC BY-SA 4.0 licence.