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Aliases for SDHA Gene

Aliases for SDHA Gene

  • Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp) 2 3
  • SDHF 3 4 6
  • Flavoprotein Subunit Of Complex II 3 4
  • CMD1GG 3 6
  • SDH2 3 4
  • PGL5 3 6
  • SDH1 3 6
  • FP 3 4
  • Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit, Mitochondrial 3
  • Succinate Dehydrogenase Complex Flavoprotein Subunit 3
  • EC 1.3.5.1 4

External Ids for SDHA Gene

Previous Symbols for SDHA Gene

  • SDH2

Summaries for SDHA Gene

Entrez Gene Summary for SDHA Gene

  • This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

GeneCards Summary for SDHA Gene

SDHA (Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp)) is a Protein Coding gene. Diseases associated with SDHA include cardiomyopathy, dilated, 1gg and paragangliomas 5. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include flavin adenine dinucleotide binding and succinate dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for SDHA Gene

  • Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Can act as a tumor suppressor.

Gene Wiki entry for SDHA Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SDHA Gene

Genomics for SDHA Gene

Genomic Location for SDHA Gene

Start:
218,223 bp from pter
End:
256,700 bp from pter
Size:
38,478 bases
Orientation:
Plus strand

Genomic View for SDHA Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SDHA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SDHA Gene

Regulatory Elements for SDHA Gene

Proteins for SDHA Gene

  • Protein details for SDHA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P31040-SDHA_HUMAN
    Recommended name:
    Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
    Protein Accession:
    P31040
    Secondary Accessions:
    • A8K5J6
    • B4DJ60
    • E9PBJ5
    • Q16395
    • Q59GW8
    • Q8IW48
    • Q9UMY5

    Protein attributes for SDHA Gene

    Size:
    664 amino acids
    Molecular mass:
    72692 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD. Interacts with SDHAF2/SDH5; interaction is required for FAD attachment. Interacts with TRAP1.
    SequenceCaution:
    • Sequence=BAD92228.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA37886.1; Type=Miscellaneous discrepancy; Note=Differs extensively from that shown.; Evidence={ECO:0000305};

    Alternative splice isoforms for SDHA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SDHA Gene

Proteomics data for SDHA Gene at MOPED

Post-translational modifications for SDHA Gene

  • Deacetylated by SIRT3.
  • Phosphorylation at Tyr-215 is important for efficient electron transfer in complex II and the prevention of ROS generation.
  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys92, Lys179, Lys335, and Lys608

Other Protein References for SDHA Gene

No data available for DME Specific Peptides for SDHA Gene

Domains for SDHA Gene

Gene Families for SDHA Gene

HGNC:
  • comII :Mitochondrial respiratory chain complex / Complex II

Suggested Antigen Peptide Sequences for SDHA Gene

Graphical View of Domain Structure for InterPro Entry

P31040

UniProtKB/Swiss-Prot:

SDHA_HUMAN
Family:
  • Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily.:
    • P31040
genes like me logo Genes that share domains with SDHA: view

Function for SDHA Gene

Molecular function for SDHA Gene

GENATLAS Biochemistry: succinate dehydrogenase,flavoprotein,inner mitochondrial membrane,component,70kDa,of complex II of mitochondrial respiratory chain,oxidative phosphorylation,(OXPHOS),also catalyzing the seventh step of the citric acid cycle
UniProtKB/Swiss-Prot CatalyticActivity: Succinate + a quinone = fumarate + a quinol
UniProtKB/Swiss-Prot Function: Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Can act as a tumor suppressor.

Enzyme Numbers (IUBMB) for SDHA Gene

Gene Ontology (GO) - Molecular Function for SDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000104 contributes_to succinate dehydrogenase activity IMP 7550341
GO:0005515 protein binding IPI 15961414
GO:0008177 succinate dehydrogenase (ubiquinone) activity IEA --
GO:0016491 oxidoreductase activity --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors --
genes like me logo Genes that share ontologies with SDHA: view

Phenotypes for SDHA Gene

GenomeRNAi human phenotypes for SDHA:
genes like me logo Genes that share phenotypes with SDHA: view

miRNA for SDHA Gene

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for SDHA Gene

Localization for SDHA Gene

Subcellular locations from UniProtKB/Swiss-Prot for SDHA Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SDHA Gene COMPARTMENTS Subcellular localization image for SDHA gene
Compartment Confidence
mitochondrion 5
nucleus 1

Gene Ontology (GO) - Cellular Components for SDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005749 mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) TAS 7550341
genes like me logo Genes that share ontologies with SDHA: view

Pathways for SDHA Gene

genes like me logo Genes that share pathways with SDHA: view

UniProtKB/Swiss-Prot P31040-SDHA_HUMAN

  • Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1

Gene Ontology (GO) - Biological Process for SDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006099 tricarboxylic acid cycle TAS 7550341
GO:0006105 succinate metabolic process IDA 7550341
GO:0007399 nervous system development IMP 16361598
GO:0022900 electron transport chain --
GO:0022904 respiratory electron transport chain TAS --
genes like me logo Genes that share ontologies with SDHA: view

Compounds for SDHA Gene

(9) HMDB Compounds for SDHA Gene

Compound Synonyms Cas Number PubMed IDs
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Fumaric acid
  • (2E)-But-2-enedioate
110-17-8
Iron
  • Armco iron
7439-89-6
QH2
  • CoQH2
56275-39-9
Succinic acid
  • 1,2-Ethanedicarboxylate
110-15-6

(5) Drugbank Compounds for SDHA Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol
target
Carboxin
  • 2,3-Dihydro-5-carboxanilido-6-methyl-1,4-oxathiin
5234-68-4 target
Succinic acid
  • 1,2-Ethanedicarboxylic acid
110-15-6 target
Thenoyltrifluoroacetone
  • .alpha.-Thenoyltrifluoroacetone
326-91-0 target
UBIQUINONE-1
target

(8) Novoseek inferred chemical compound relationships for SDHA Gene

Compound -log(P) Hits PubMed IDs
succinate 86.9 29
iron-sulfur 76.4 8
glyceraldehyde 3-phosphate 58.7 4
ubiquinone 42.4 1
flavin 38.2 2
genes like me logo Genes that share compounds with SDHA: view

Transcripts for SDHA Gene

Unigene Clusters for SDHA Gene

Succinate dehydrogenase complex, subunit A, flavoprotein (Fp):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SDHA Gene

No ASD Table

Relevant External Links for SDHA Gene

GeneLoc Exon Structure for
SDHA
ECgene alternative splicing isoforms for
SDHA

Expression for SDHA Gene

mRNA expression in normal human tissues for SDHA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SDHA Gene

This gene is overexpressed in Heart - Left Ventricle (6.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SDHA Gene

SOURCE GeneReport for Unigene cluster for SDHA Gene Hs.440475

genes like me logo Genes that share expressions with SDHA: view

No data available for mRNA Expression by UniProt/SwissProt for SDHA Gene

Orthologs for SDHA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SDHA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SDHA 35
  • 99.25 (n)
  • 99.4 (a)
SDHA 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SDHA 35
  • 84.59 (n)
  • 91.11 (a)
SDHA 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SDHA 35
  • 89.06 (n)
  • 95.78 (a)
SDHA 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sdha 35
  • 86.65 (n)
  • 94.88 (a)
Sdha 16
Sdha 36
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SDHA 36
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SDHA 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sdha 35
  • 86.38 (n)
  • 94.82 (a)
chicken
(Gallus gallus)
Aves SDHA 35
  • 77.96 (n)
  • 89.16 (a)
SDHA 36
  • 89 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SDHA 36
  • 88 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68518 35
tropical clawed frog
(Silurana tropicalis)
Amphibia sdha 35
  • 74.26 (n)
  • 87.77 (a)
Str.9006 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.337 35
zebrafish
(Danio rerio)
Actinopterygii sdha 35
  • 74.33 (n)
  • 83.36 (a)
sdha 36
  • 83 (a)
OneToOne
zgc56051 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010429 35
  • 68.34 (n)
  • 78.39 (a)
fruit fly
(Drosophila melanogaster)
Insecta SdhA 35
  • 68.13 (n)
  • 74.66 (a)
SdhA 36
  • 74 (a)
OneToOne
CG5718 37
  • 61 (a)
Scs-fp 37
  • 73 (a)
worm
(Caenorhabditis elegans)
Secernentea sdha-1 35
  • 64.52 (n)
  • 73.39 (a)
C03G5.1 37
  • 72 (a)
C34B2.7 37
  • 71 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR052W 35
  • 62.62 (n)
  • 66.34 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 36
  • 65 (a)
OneToOne
SDH1 35
  • 61.93 (n)
  • 66.67 (a)
SDH1 38
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04444g 35
  • 59.68 (n)
  • 64.63 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10042 35
thale cress
(Arabidopsis thaliana)
eudicotyledons SDH1-1 35
  • 64.04 (n)
  • 70.81 (a)
corn
(Zea mays)
Liliopsida Zm.16820 35
rice
(Oryza sativa)
Liliopsida Os.22581 35
Os07g0134800 35
  • 63.23 (n)
  • 70.6 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.3416 35
bread mold
(Neurospora crassa)
Ascomycetes NCU08336 35
  • 63.88 (n)
  • 69.76 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes sdh1 35
  • 62.64 (n)
  • 70.53 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2710 35
Species with no ortholog for SDHA:
  • Actinobacteria (Mycobacterium tuberculosis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for SDHA Gene

ENSEMBL:
Gene Tree for SDHA (if available)
TreeFam:
Gene Tree for SDHA (if available)

Paralogs for SDHA Gene

Pseudogenes.org Pseudogenes for SDHA Gene

genes like me logo Genes that share paralogs with SDHA: view

No data available for Paralogs for SDHA Gene

Variants for SDHA Gene

Sequence variations from dbSNP and Humsavar for SDHA Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs6960 -- 254,484(+) GTCCT(A/T)TGTGG reference, missense
rs6961 Likely benign 256,357(+) CCCGT(A/G)ATCGA synonymous-codon, reference
rs6962 Likely benign, - 256,394(+) CCACC(A/G)TCCCG missense, reference
rs13992 -- 254,466(+) CTGGA(A/G)GAAGC missense, reference
rs185038 -- 233,256(-) AGCGG(C/T)GTCCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SDHA Gene

Variant ID Type Subtype PubMed ID
essv22552 CNV CNV 17122850
dgv1733e1 CNV Complex 17122850
esv2752083 CNV Gain 17911159
dgv1734e1 CNV Complex 17122850
nsv428458 CNV Loss 18775914
dgv5878n71 CNV Loss 21882294
nsv880815 CNV Loss 21882294
nsv518607 CNV Gain 19592680
nsv523382 CNV Loss 19592680
nsv881455 CNV Loss 21882294
nsv10644 CNV Gain+Loss 18304495
nsv10645 CNV Loss 18304495

Relevant External Links for SDHA Gene

HapMap Linkage Disequilibrium report
SDHA
Human Gene Mutation Database (HGMD)
SDHA
Locus Specific Mutation Databases (LSDB)
SDHA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SDHA Gene

Disorders for SDHA Gene

(4) OMIM Diseases for SDHA Gene (600857)

UniProtKB/Swiss-Prot

SDHA_HUMAN
  • Mitochondrial complex II deficiency (MT-C2D) [MIM:252011]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269 PubMed:10746566, ECO:0000269 PubMed:7550341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1GG (CMD1GG) [MIM:613642]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:20551992}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Paragangliomas 5 (PGL5) [MIM:614165]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear. {ECO:0000269 PubMed:20484225}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(11) Novoseek inferred disease relationships for SDHA Gene

Disease -log(P) Hits PubMed IDs
thyroid-associated ophthalmopathy 90.1 1
paraganglioma 75.2 3
leigh syndrome 72.6 3
hyperthyroidism 67.7 5
hashimotos thyroiditis 61.5 1

Genatlas disease for SDHA Gene

lactate acidosis,Leigh syndrome presenting as a leukodystrophy

Relevant External Links for SDHA

Genetic Association Database (GAD)
SDHA
Human Genome Epidemiology (HuGE) Navigator
SDHA
genes like me logo Genes that share disorders with SDHA: view

Publications for SDHA Gene

  1. Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria. (PMID: 7798181) Hirawake H. … Kita K. (J. Biochem. 1994) 2 3 4 23
  2. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. (PMID: 10746566) Parfait B. … Rustin P. (Hum. Genet. 2000) 3 4 23
  3. Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II. (PMID: 12794685) Van Coster R. … Lissens W. (Am. J. Med. Genet. A 2003) 3 4 23
  4. Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis. (PMID: 17298551) Bonache S. … Larriba S. (Int. J. Androl. 2007) 3 23 48
  5. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. (PMID: 7550341) Bourgeron T. … Roetig A. (Nat. Genet. 1995) 3 4

Products for SDHA Gene

Sources for SDHA Gene

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