Property Summary

NCBI Gene PubMed Count 62
PubMed Score 399.03
PubTator Score 321.92

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Gene RIF (47)

PMID Text
26652933 This report provides evidence that SDHC promoter methylation can cause Paragangliomas due to SDHC inactivation
26377099 significant association with overall survival were confirmed for SDHC gene, SDHD gene and FH gene ... SDHC gene and FH gene were the primary factors contributing to the different overall survival time of colorectal carcinoma
26259135 This study strengthens the etiological association of SDH genes with pituitary neoplasia, renal tumorigenesis, and gastric gastrointestinal stromal tumors. Also, pancreatic neuroendocrine tumor falls within the SDH-related tumor spectrum.
26162468 Loss of the SDHC gene is associated with metastatic sympathetic paraganglioma.
25694510 Both germline and somatic SDHx mutations/variants occur in sporadic differentiated thyroid cancer (DTC) but are very rare in sporadic breast cancer, and overall loss of SDHx gene expression is a signature of DTC
25540324 The discovery of SDHC epimutation provides a unifying explanation for the pathogenesis of SDH-deficient gastrointestinal stromal tumors.
25081338 Variant in rs3935401 in the 3' untranslated region of SDHC is associated with hepatocellular carcinoma.
24859990 these data suggest epigenetic inactivation of the SDHC gene locus with functional impairment of the SDHC as a plausible alternate mechanism of tumorigenesis in Carney Triad
24758179 Thoracic paragangliomas are common in patients with SDHC mutations, and imaging of this area should be included in surveillance of mutation carriers.
24423348 this study reports the first patient affected by malignant paraganglioma and< moreover, it reports two more unrelated patients with the same genotype and very different clinical presentations.
23743927 SDH deficiency may promote tumorigenesis through accumulation of succinate and inhibition of dioxygenase enzymes. Inhibition of TET activity may, in turn, alter global DNA methylation and gene expression in SDH-deficient tumors.
23612575 Overall, 9 of the 34 patients with KIT/PDGFRA wild-type GIST carried mutations in one of the four subunits of the SDH complex (six patients in SDHA, two in SDHB, one in SDHC
23174333 Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade.
22573489 Tumor DNA mutation screening of the SDHx, VHL, and RET genes and LOH analyses of the SDHx and VHL genes were performed for pheochromocytoma.
22566194 No SDHC mutation were found in patients with sporadic paraganglioma.
22351710 Biallelic inactivation of the SDHC gene may represent a new pathway of pathogenesis of syndromic and nonsyndromic renal cell carcinoma, perhaps of both clear cell and papillary histologies
21268708 mammalian cells over expressing mutations in SDHC demonstrate low-dose/low-LET radiation sensitization that is mediated by increased levels of O*- and HO.
21106325 Case Report: present a 32-year-old man with a familial SDHC mutation who manifests synchronous paragangliomas of the carotid body and the thoracic aortopulmonary window.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20236688 Approximately 15% of all pheochromocytomas or paragangliomas are associated with germline SDH mutation.
20208144 Observational study of gene-disease association. (HuGE Navigator)
20153743 Observational study of genetic testing. (HuGE Navigator)
19915015 Observational study of gene-disease association. (HuGE Navigator)
19768395 no clear association was found between gene variants involved in oxygen sensing and chemoresponsiveness, although some mutations in the SDHB and SDHD genes deserve further investigations in a larger population.
19768395 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19546167 Gene deletions of SDHD and SDHC represent a substantial proportion of all mutations, and must be considered in paraganglioma patients shown to be negative for mutations by sequencing.
19343621 Observational study of gene-disease association. (HuGE Navigator)
19258401 Observational study of gene-disease association. (HuGE Navigator)
19223516 Observational study of gene-disease association. (HuGE Navigator)
19064571 Observational study of gene-disease association. (HuGE Navigator)
19029228 Observational study of gene-disease association. (HuGE Navigator)
18728283 Observational study of gene-disease association. (HuGE Navigator)
17804857 familial gastrointestinal stromal tumors may be caused by mutations of the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD, and abdominal paragangliomas associated with gastrointestinal tumors may be caused uniquely by SDHC mutations
17667967 investigated 11 patients with the dyad of 'paraganglioma and gastric stromal sarcoma'; in eight, from 7 unrelated families, the GISTs were caused by germline mutations of the genes encoding subunits B, C, or D (the SDHB, SDHC and SDHD genes, respectively)
17599579 Observational study of gene-disease association. (HuGE Navigator)
17298551 Observational study of gene-disease association. (HuGE Navigator)
17250422 Observational study of gene-disease association. (HuGE Navigator)
17102080 Observational study of genotype prevalence. (HuGE Navigator)
16405730 Germline mutations of SDHC play a minor role in sporadic head and neck paraganglioma.
16322339 Observational study of gene-disease association. (HuGE Navigator)
16322339 A possible role for SDH polymorphism as susceptibility/disease modifying factors in familial and sporadic medullary thyroid carcinomas was shown.
15665296 Mutant protein in transgenic mice generates oxidative stress and can contribute to nuclear DNA damage, mutagenesis, and ultimately, tumorigenesis
15342702 description of a large deletion in a complex II gene and confirmation of the role of SDHC in familial and sporadic paragangliomas
12658451 A splice donor site mutation in SDHC is associates with autosomal dominant malignant and catecholamine-producing paraganglioma
12612654 Review. Succinate dehydrogenase catalyses a step in the Krebs tricarboxylic-acid cycle. Inherited heterozygous mutations in the gene encoding this enzyme causes a predisposition to inherited neoplasia syndromes.
11897817 Observational study of genotype prevalence. (HuGE Navigator)
11897817 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas

AA Sequence

MAALLLRHVGRHCLRAHFSPQLCIRNAVPLGTTAKEEMERFWNKNIGSNRPLSPHITIYSWSLPMAMSIC      1 - 70
HRGTGIALSAGVSLFGMSALLLPGNFESYLELVKSLCLGPALIHTAKFALVFPLMYHTWNGIRHLMWDLG     71 - 140
KGLKIPQLYQSGVVVLVLTVLSSMGLAAM                                             141 - 169
//

Text Mined References (65)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26652933 2016 Epigenetic Mutation of the Succinate Dehydrogenase C Promoter in a Patient With Two Paragangliomas.
26377099 2015 Genetic variations in genes of metabolic enzymes predict postoperational prognosis of patients with colorectal cancer.
26259135 2015 Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum.
26162468 2015 Metastatic sympathetic paraganglioma in a patient with loss of the SDHC gene.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25694510 2015 Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer.
25540324 2014 Recurrent epimutation of SDHC in gastrointestinal stromal tumors.
25081338 2014 Genetic variants in genes of tricarboxylic acid cycle key enzymes predict postsurgical overall survival of patients with hepatocellular carcinoma.
24859990 2014 Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad.
24758179 2014 The clinical phenotype of SDHC-associated hereditary paraganglioma syndrome (PGL3).
24423348 2014 Phenotypic variability and risk of malignancy in SDHC-linked paragangliomas: lessons from three unrelated cases with an identical germline mutation (p.Arg133*).
23743927 2013 Succinate dehydrogenase deficiency is associated with decreased 5-hydroxymethylcytosine production in gastrointestinal stromal tumors: implications for mechanisms of tumorigenesis.
23612575 2014 Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.
23174333 2013 The role of complex II in disease.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
22573489 2012 Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma.
22566194 2012 Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium: an update.
22351710 2012 Biallelic inactivation of the SDHC gene in renal carcinoma associated with paraganglioma syndrome type 3.
21269460 2011 Initial characterization of the human central proteome.
21268708 2011 Sensitivity to low-dose/low-LET ionizing radiation in mammalian cells harboring mutations in succinate dehydrogenase subunit C is governed by mitochondria-derived reactive oxygen species.
21106325 2011 Synchronous carotid body and thoracic paraganglioma associated with a germline SDHC mutation.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20236688 2010 Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes.
20208144 2010 Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.
20153743 2010 Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD.
19915015 2010 Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.
19768395 2009 A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia?
19546167 2009 Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.
19343621 2009 Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma.
19258401 2009 Genetics of pheochromocytoma and paraganglioma in Spanish patients.
19223516 2009 Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.
19064571 2008 Polymorphisms in mitochondrial genes and prostate cancer risk.
19029228 2009 Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?
18728283 2008 Germline SDHB mutations and familial renal cell carcinoma.
17804857 2007 Familial gastrointestinal stromal tumors and germ-line mutations.
17667967 2008 Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.
17599579 2007 Malignant head and neck paragangliomas in SDHB mutation carriers.
17376234 2007 Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA.
17298551 2007 Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis.
17250422 No association of an SDHC gene polymorphism with gastric cancer.
17102080 2006 Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience.
16885361 2006 Mutation of succinate dehydrogenase subunit C results in increased O2.-, oxidative stress, and genomic instability.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16405730 2006 Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16322339 2005 No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma.
16143825 2005 Succinate dehydrogenase deficiency in human.
15665296 2005 A mutation in the SDHC gene of complex II increases oxidative stress, resulting in apoptosis and tumorigenesis.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15479192 2004 SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas.
15342702 2004 An Alu-mediated partial SDHC deletion causes familial and sporadic paraganglioma.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12658451 2003 Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC.
12612654 2003 A role for mitochondrial enzymes in inherited neoplasia and beyond.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11897817 2002 Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.
11404820 2001 Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.
11062460 2000 Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
9851882 1998 A human succinate-ubiquinone oxidoreductase CII-3 subunit gene ending in a polymorphic dinucleotide repeat is located within the sulfonylurea receptor (SUR) gene.
9714607 1998 Characterization of the human SDHC gene encoding of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria.
9533030 1997 Cytochrome 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.
7592812 1995 A Chinese hamster mutant cell line with a defect in the integral membrane protein CII-3 of complex II of the mitochondrial electron transport chain.
6934864 1980 Assignment of a gene for succinate dehydrogenase to human chromosome 1 by somatic cell hybridization.
2302193 1990 Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria.