SDHA (succinate dehydrogenase complex flavoprotein subunit A)

2009-11-01  

Identity

HGNC
SDHA
LOCATION
5p15.33
LOCUSID
6389
ALIAS
CMD1GG,FP,MC2DN1,NDAXOA,PGL5,SDH1,SDH2,SDHF
FUSION GENES
Show Gene Fusions

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
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
369809172023SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.4
369809172023SDHA Germline Mutations in SDH-Deficient GISTs: A Current Update.4
336020192022Upregulation of SDHA inhibited proliferation, migration, and invasion of clear cell renal cell carcinoma cells via inactivation of the Wnt/β-catenin pathway.5
354639782022Subcellular Proteome Analysis Reveals Apoptotic Vulnerability of T-Cell Acute Lymphoblastic Leukemia.0
362326042022PIKE-A Modulates Mitochondrial Metabolism through Increasing SDHA Expression Mediated by STAT3/FTO Axis.2
336020192022Upregulation of SDHA inhibited proliferation, migration, and invasion of clear cell renal cell carcinoma cells via inactivation of the Wnt/β-catenin pathway.5
354639782022Subcellular Proteome Analysis Reveals Apoptotic Vulnerability of T-Cell Acute Lymphoblastic Leukemia.0
362326042022PIKE-A Modulates Mitochondrial Metabolism through Increasing SDHA Expression Mediated by STAT3/FTO Axis.2
334712992021A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.3
338542142021Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.1
340146042021Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.8
334712992021A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.3
338542142021Familial wild-type gastrointestinal stromal tumour in association with germline truncating variants in both SDHA and PALB2.1
340146042021Single nucleotide variants of succinate dehydrogenase A gene in renal cell carcinoma.8
320202092020Clinical significance of the molecular heterogeneity of gastrointestinal stromal tumors and related research: A systematic review.8

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