SDHC

Protein identityUniProt · HPA

UniProt accession

Q99643

Gene

SDHC

Ensembl

ENSG00000143252

Chromosome

1

Canonical length

169 aa

Protein class

Cancer-related genes, Citric acid cycle related proteins, Disease related genes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters

OverviewNCBI Gene

This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

Canonical amino-acid sequenceUniProt

169 residues, UniProt reviewed canonical sequence.

>Q99643|SDHC
     1  MAALLLRHVG RHCLRAHFSP QLCIRNAVPL GTTAKEEMER FWNKNIGSNR PLSPHITIYS
    61  WSLPMAMSIC HRGTGIALSA GVSLFGMSAL LLPGNFESYL ELVKSLCLGP ALIHTAKFAL
   121  VFPLMYHTWN GIRHLMWDLG KGLKIPQLYQ SGVVVLVLTV LSSMGLAAM

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SDHC 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

Other membrane

Secreted

No

Transmembrane segments

3

Mean surface accessibility (rSASA)

0.45

Highest tissue expression

299 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SDHC.

Disease | AllUniProt

Conditions SDHC is implicated in, by any mechanism.

• Pheochromocytoma/paraganglioma syndrome 3 (PPGL3) MIM:605373
• Paraganglioma and gastric stromal sarcoma (PGGSS) MIM:606864

Disease | GeneticClinVar

107 pathogenic / likely-pathogenic of 983 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Pheochromocytoma/paraganglioma syndrome 3
• Gastrointestinal stromal tumor
• Hereditary cancer-predisposing syndrome
• Hereditary pheochromocytoma and paraganglioma
• Carney-Stratakis syndrome

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)

1.26

gnomAD pLI

0

gnomAD missense Z

0.83

DepMap mean gene effect

-0.83

DepMap dependency class

common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 14% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aerobic respiration
• mitochondrial electron transport, succinate to ubiquinone
• proton motive force-driven mitochondrial ATP synthesis
• tricarboxylic acid cycle

Molecular functions

• electron transfer activity
• heme binding
• metal ion binding

Cellular components

• membrane
• mitochondrial inner membrane
• mitochondrion
• respiratory chain complex II (succinate dehydrogenase)

Protein domainsUniProt · Pfam · InterPro

• Fumarate reductase/succinate dehydrogenase, transmembrane subunit
• Succinate dehydrogenase/fumarate reductase type B, transmembrane subunit
• Succinate dehydrogenase, cytochrome b556 subunit
• Succinate dehydrogenase, cytochrome b subunit, conserved site
• Succinate dehydrogenase/Fumarate reductase transmembrane subunit

KeywordsUniProt

• Electron transport
• Heme
• Iron
• Membrane
• Metal-binding
• Mitochondrion
• Mitochondrion inner membrane
• Transit peptide
• Transmembrane
• Transmembrane helix
• Transport
• Tricarboxylic acid cycle