SDHC (succinate dehydrogenase complex II, subunit C, integral membrane protein)

2002-04-01   Anne-Paule Gimenez-Roqueplo  

Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20-40, rue Leblanc, 75908 Paris cedex 15, France

Identity

HGNC
SDHC
LOCATION
1q23.3
LOCUSID
6391
ALIAS
CYB560,CYBL,PGL3,QPS1,SDH3
FUSION GENES
Show Gene Fusions

DNA/RNA

Description

1180 bp, 6 exons

Proteins

Expression

widely expressed

Localisation

mitochondrial inner membrane

Function

Complex II (succinate-ubiquinone oxidoreductase) of the respiratory chain is involved in the oxidation of succinate, carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. The subunit C protein or large subunit (cybL) is one of two integral membrane proteins anchoring the complex to membrane.

Homology

The complex II includes SDHD (cybS) and SDHB (iron-sulfur protein) which are also implicated in paragangliomas and pheochromocytomas.

Mutations

Germinal

Germline mutations cause hereditary paraganglioma. At this time, an unique mutation which destroyed the initial site of traduction (ATG, start codon) of SDHC gene has been reported in a family with a hereditary paraganglioma.

Somatic

Loss of wild type allele in tumor DNA is usually observed.

Implicated in

Entity name
Hereditary paraganglioma type 3
Note
Alias: Familial non chromaffin paragangliomas 3; Familial glomus tumor
Disease
Hereditary paraganglioma type 3 (PGL3) is a rare autosomal dominant disorder non maternally imprinted. Paragangliomas are slow growing highly vascular tumor, usually benign, derived from crest-neural cells. They are preferentially located in the neck (carotid body and glomus vagal) and head (glomus jugulare and tympanicum).
Prognosis
It depends on extent of the disease at the time of diagnosis.

Article Bibliography

Pubmed IDLast YearTitleAuthors
118978172002Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.Baysal BE et al
97146071998Characterization of the human SDHC gene encoding of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria.Elbehti-Green A et al
95330301997Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23.Hirawake H et al
114264532001Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma.Niemann S et al
110624602000Mutations in SDHC cause autosomal dominant paraganglioma, type 3.Niemann S et al

Other Information

Locus ID:

NCBI: 6391
MIM: 602413
HGNC: 10682
Ensembl: ENSG00000143252

Variants:

dbSNP: 6391
ClinVar: 6391
TCGA: ENSG00000143252
COSMIC: SDHC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143252ENST00000342751Q99643
ENSG00000143252ENST00000367975Q99643
ENSG00000143252ENST00000367975A0A0S2Z4B7
ENSG00000143252ENST00000392169Q99643
ENSG00000143252ENST00000392169A0A0S2Z4C9
ENSG00000143252ENST00000432287Q99643
ENSG00000143252ENST00000470743A0A087WZU7
ENSG00000143252ENST00000504963D6RBX6
ENSG00000143252ENST00000513009Q99643

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Citrate cycle (TCA cycle)KEGGko00020
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Citrate cycle (TCA cycle)KEGGhsa00020
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Metabolic pathwaysKEGGhsa01100
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetateKEGGhsa_M00011
Succinate dehydrogenase (ubiquinone)KEGGhsa_M00148
Citrate cycle (TCA cycle, Krebs cycle)KEGGM00009
Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetateKEGGM00011
Carbon metabolismKEGGhsa01200
Carbon metabolismKEGGko01200
Citrate cycle (TCA cycle, Krebs cycle)KEGGhsa_M00009
Non-alcoholic fatty liver disease (NAFLD)KEGGhsa04932
Non-alcoholic fatty liver disease (NAFLD)KEGGko04932
Succinate dehydrogenase (ubiquinone)KEGGM00148
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Pyruvate metabolism and Citric Acid (TCA) cycleREACTOMER-HSA-71406
Citric acid cycle (TCA cycle)REACTOMER-HSA-71403
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Respiratory electron transportREACTOMER-HSA-611105

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA165543618SDHAF2GeneDataAnnotationassociated
PA35606SDHBGeneDataAnnotationassociated
PA35608SDHDGeneDataAnnotationassociated
PA445229ParagangliomaDiseaseDataAnnotationassociated
PA445315PheochromocytomaDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
336249832021SDHC Methylation Pattern in Patients With Carney Triad.0
336249832021SDHC Methylation Pattern in Patients With Carney Triad.0
314928222020Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma.11
314928222020Variant type is associated with disease characteristics in SDHB, SDHC and SDHD-linked phaeochromocytoma-paraganglioma.11
312789502019SDHC-related deficiency of SDH complex activity promotes growth and metastasis of hepatocellular carcinoma via ROS/NFκB signaling.27
312789502019SDHC-related deficiency of SDH complex activity promotes growth and metastasis of hepatocellular carcinoma via ROS/NFκB signaling.27
291263042018SDHC Promoter Methylation, a Novel Pathogenic Mechanism in Parasympathetic Paragangliomas.9
293862522018Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.91
291263042018SDHC Promoter Methylation, a Novel Pathogenic Mechanism in Parasympathetic Paragangliomas.9
293862522018Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.91
274852562017Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.3
291072962017Maternal obesity alters fatty acid oxidation, AMPK activity, and associated DNA methylation in mesenchymal stem cells from human infants.32
274852562017Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma.3
291072962017Maternal obesity alters fatty acid oxidation, AMPK activity, and associated DNA methylation in mesenchymal stem cells from human infants.32
264903142016In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma.30

Citation

Anne-Paule Gimenez-Roqueplo

SDHC (succinate dehydrogenase complex II, subunit C, integral membrane protein)

Atlas Genet Cytogenet Oncol Haematol. 2002-04-01

Online version: http://atlasgeneticsoncology.org/gene/389