SDHA (succinate dehydrogenase complex flavoprotein subunit A)

2009-11-01  

Identity

HGNC
LOCATION
5p15.33
LOCUSID
ALIAS
CMD1GG,FP,MC2DN1,NDAXOA,PGL5,SDH1,SDH2,SDHF
FUSION GENES

Other Information

Locus ID:

NCBI: 6389
MIM: 600857
HGNC: 10680
Ensembl: ENSG00000073578

Variants:

dbSNP: 6389
ClinVar: 6389
TCGA: ENSG00000073578
COSMIC: SDHA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000073578ENST00000264932P31040
ENSG00000073578ENST00000264932A0A024QZ30
ENSG00000073578ENST00000504309D6RFM5
ENSG00000073578ENST00000509564H0Y8S2
ENSG00000073578ENST00000509632D6REB7
ENSG00000073578ENST00000510361P31040
ENSG00000073578ENST00000515815H0Y8X1
ENSG00000073578ENST00000617470A0A087X1I3

Expression (GTEx)

0
50
100
150
200
250
300
350

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
226775462012Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors.274
126126542003A role for mitochondrial enzymes in inherited neoplasia and beyond.72
270110362016Molecular Subtypes of KIT/PDGFRA Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Gastrointestinal Stromal Tumor Clinic.66
215051572011SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing.52
232829682013Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation.42
231743332013The role of complex II in disease.40
283847942017Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.31
236125752014Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.30
236332032013Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma.28
231749392013SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors.27

Citation

Dessen P

SDHA (succinate dehydrogenase complex flavoprotein subunit A)

Atlas Genet Cytogenet Oncol Haematol. 2009-11-01

Online version: http://atlasgeneticsoncology.org/gene/51180/sdha-(succinate-dehydrogenase-complex-flavoprotein-subunit-a)