SDHAF2

Protein identityUniProt · HPA

UniProt accession

Q9NX18

Gene

SDHAF2

Ensembl

ENSG00000167985

Chromosome

11

Canonical length

166 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins

Subcellular location

Nucleoli,Mitochondria,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

166 residues, UniProt reviewed canonical sequence.

>Q9NX18|SDHAF2
     1  MAVSTVFSTS SLMLALSRHS LLSPLLSVTS FRRFYRGDSP TDSQKDMIEI PLPPWQERTD
    61  ESIETKRARL LYESRKRGML ENCILLSLFA KEHLQHMTEK QLNLYDRLIN EPSNDWDIYY
   121  WATEAKPAPE IFENEVMALL RDFAKNKNKE QRLRAPDLEY LFEKPR

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SDHAF2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.44

Highest tissue expression

50 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SDHAF2.

Disease | AllUniProt

Conditions SDHAF2 is implicated in, by any mechanism.

• Pheochromocytoma/paraganglioma syndrome 2 (PPGL2) MIM:601650

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 741 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Hereditary cancer-predisposing syndrome
• Hereditary pheochromocytoma and paraganglioma
• Pheochromocytoma/paraganglioma syndrome 2
• Glioma susceptibility 1
• Clear cell carcinoma of kidney

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.81

gnomAD pLI

0

gnomAD missense Z

-0.14

DepMap mean gene effect

-0.33

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

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

Cellular components

• cytosol
• mitochondrial matrix
• mitochondrion
• nucleolus

Protein domainsUniProt · Pfam · InterPro

• Flavinator of succinate dehydrogenase
• Succinate dehydrogenase assembly factor 2, mitochondrial
• Flavinator of succinate dehydrogenase superfamily
• Flavinator of succinate dehydrogenase

KeywordsUniProt

• Chaperone
• Mitochondrion
• Transit peptide

InteractionsUniProt · HPA

Protein binding partners of SDHAF2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• SDHA