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Aliases for SDHA Gene

Aliases for SDHA Gene

  • Succinate Dehydrogenase Complex Flavoprotein Subunit A 2 3
  • Succinate Dehydrogenase Complex Subunit A, Flavoprotein (Fp) 2 3 5
  • Flavoprotein Subunit Of Complex II 2 3 4
  • Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp) 2 3
  • Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit 2 3
  • SDH2 3 4
  • SDHF 3 4
  • FP 3 4
  • EC 1.3.5.1 4
  • CMD1GG 3
  • PGL5 3
  • SDH1 3

External Ids for SDHA Gene

Previous HGNC Symbols for SDHA Gene

  • SDH2

Previous GeneCards Identifiers for SDHA Gene

  • GC05P000259
  • GC05P000271

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 Flavoprotein Subunit A) is a Protein Coding gene. Diseases associated with SDHA include paragangliomas 5 and cardiomyopathy, dilated, 1gg. Among its related pathways are Alzheimer's disease and Carbon metabolism. GO annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on the CH-CH group of donors.

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) (PubMed:24781757). Can act as a tumor suppressor (PubMed:20484225).

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

Regulatory Elements for SDHA Gene

Enhancers for SDHA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SDHA on UCSC Golden Path with GeneCards custom track

Promoters for SDHA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around SDHA on UCSC Golden Path with GeneCards custom track

Genomic Location for SDHA Gene

Chromosome:
5
Start:
218,223 bp from pter
End:
264,816 bp from pter
Size:
46,594 bases
Orientation:
Plus strand

Genomic View for SDHA Gene

Genes around SDHA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SDHA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SDHA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 (By similarity). Interacts with SDHAF2/SDH5; interaction is required for FAD attachment (PubMed:19628817). Interacts with TRAP1 (PubMed:23747254).
    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

  • Acetylated. Deacetylated by SIRT3.
  • Phosphorylation at Tyr-215 is important for efficient electron transfer in complex II and the prevention of ROS generation.
  • Ubiquitination at Lys 92, Lys 335, and Lys 608
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SDHA (SDHA)

No data available for DME Specific Peptides for SDHA Gene

Domains & Families for SDHA Gene

Suggested Antigen Peptide Sequences for SDHA Gene

Graphical View of Domain Structure for InterPro Entry

P31040

UniProtKB/Swiss-Prot:

SDHA_HUMAN :
  • Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily.
Family:
  • Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily.
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) (PubMed:24781757). Can act as a tumor suppressor (PubMed:20484225).

Enzyme Numbers (IUBMB) for SDHA Gene

Gene Ontology (GO) - Molecular Function for SDHA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008177 succinate dehydrogenase (ubiquinone) activity IEA,IMP 24781757
GO:0016491 oxidoreductase activity IEA --
GO:0016627 oxidoreductase activity, acting on the CH-CH group of donors IEA --
genes like me logo Genes that share ontologies with SDHA: view
genes like me logo Genes that share phenotypes with SDHA: view

Human Phenotype Ontology for SDHA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SDHA Gene

MGI Knock Outs for SDHA:
  • Sdha tm2b(KOMP)Wtsi

Animal Model Products

miRNA for SDHA Gene

No data available for Transcription Factor Targets 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

No data available for Gene Ontology (GO) - Cellular Components for SDHA Gene

Pathways & Interactions 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:0006105 succinate metabolic process IDA 7550341
GO:0007399 nervous system development IMP 16361598
genes like me logo Genes that share ontologies with SDHA: view

No data available for SIGNOR curated interactions for SDHA Gene

Drugs & Compounds for SDHA Gene

(11) Drugs for SDHA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Succinic acid Approved Nutra Full agonist, Agonist, Target 0
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
Carboxin Experimental Pharma Target 0

(11) Additional Compounds for SDHA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
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 differential expression in normal tissues according to GTEx for SDHA Gene

This gene is overexpressed in Heart - Left Ventricle (x6.6).

Protein differential expression in normal tissues from HIPED for SDHA Gene

This gene is overexpressed in Heart (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with SDHA: view

Protein tissue co-expression partners for SDHA Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
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 36
  • 95 (a)
OneToOne
Sdha 16
chimpanzee
(Pan troglodytes)
Mammalia SDHA 36
  • 99 (a)
OneToOne
SDHA 35
  • 99.25 (n)
  • 99.4 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia SDHA 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SDHA 36
  • 91 (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 Str.9006 35
sdha 35
  • 74.26 (n)
  • 87.77 (a)
zebrafish
(Danio rerio)
Actinopterygii sdha 35
  • 74.33 (n)
  • 83.36 (a)
zgc56051 35
sdha 36
  • 83 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.337 35
fruit fly
(Drosophila melanogaster)
Insecta CG5718 37
  • 61 (a)
Scs-fp 37
  • 73 (a)
SdhA 35
  • 68.13 (n)
  • 74.66 (a)
SdhA 36
  • 74 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010429 35
  • 68.34 (n)
  • 78.39 (a)
worm
(Caenorhabditis elegans)
Secernentea C03G5.1 37
  • 72 (a)
C34B2.7 37
  • 71 (a)
sdha-1 35
  • 64.52 (n)
  • 73.39 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ACR052W 35
  • 62.62 (n)
  • 66.34 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D04444g 35
  • 59.68 (n)
  • 64.63 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SDH1 38
-- 36
  • 65 (a)
OneToOne
SDH1 35
  • 61.93 (n)
  • 66.67 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons SDH1-1 35
  • 64.04 (n)
  • 70.81 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.10042 35
corn
(Zea mays)
Liliopsida Zm.16820 35
wheat
(Triticum aestivum)
Liliopsida Ta.3416 35
rice
(Oryza sativa)
Liliopsida Os07g0134800 35
  • 63.23 (n)
  • 70.6 (a)
Os.22581 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2710 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)
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
VAR_002449 Leigh syndrome (LS)
VAR_016878 Leigh syndrome (LS)
VAR_016879 Cardiomyopathy, dilated 1GG (CMD1GG)
VAR_016879 Mitochondrial complex II deficiency (MT-C2D)
rs1061518 - 223,515(+) GAGGT(G/T)TTCAC nc-transcript-variant, reference, missense

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

Variation tolerance for SDHA Gene

Residual Variation Intolerance Score: 16.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.69; 78.59% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SDHA Gene

HapMap Linkage Disequilibrium report
SDHA
Human Gene Mutation Database (HGMD)
SDHA

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

Disorders for SDHA Gene

MalaCards: The human disease database

(33) MalaCards diseases for SDHA Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
paragangliomas 5
  • pgl5
cardiomyopathy, dilated, 1gg
  • cardiomyopathy, dilated 1gg
mitochondrial complex ii deficiency
  • mitochondrial respiratory chain complex ii deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
paragangliomas 4
  • paraganglioma, familial malignant
- elite association - COSMIC cancer census association via MalaCards
Search SDHA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SDHA_HUMAN
  • 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.
  • 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:24781757, ECO:0000269 PubMed:7550341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:12794685}.
  • 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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 67
  2. Cytopathies involving mitochondrial complex II. (PMID: 12231007) Ackrell B.A. (Mol. Aspects Med. 2002) 23 25 26
  3. 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
  4. Sequence variation in human succinate dehydrogenase genes: evidence for long-term balancing selection on SDHA. (PMID: 17376234) Baysal B.E. … Ferrell R.E. (BMC Biol. 2007) 3 23
  5. Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). (PMID: 16361598) HorvA!th R. … Jaksch M. (J. Neurol. Neurosurg. Psychiatr. 2006) 3 23

Products for SDHA Gene

Sources for SDHA Gene

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