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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SDHA Gene

protein-coding   GIFtS: 65
GCID: GC05P000208

succinate dehydrogenase complex, subunit A, flavoprotein...


(Previous symbol: SDH2)
 Explore 41 diseases affiliated with
SDHA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for SDHA    

Aliases
for SDHA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Succinate Dehydrogenase Complex, Subunit A, Flavoprotein (Fp)1 2     CMD1GG2 5
SDHF1 2 3 5     SDH12 5
SDH21 2 3     PGL52
FP1 2     Succinate Dehydrogenase [Ubiquinone] Flavoprotein Subunit, Mitochondrial2
Flavoprotein Subunit Of Complex II2 3     Succinate Dehydrogenase Complex Flavoprotein Subunit2
EC 1.3.5.13 8     Fp3

External Ids:    HGNC: 106801   Entrez Gene: 63892   Ensembl: ENSG000000735787   OMIM: 6008575   UniProtKB: P310403   

Export aliases for SDHA gene to outside databases

Previous GC identifers: GC05P000259 GC05P000271


Summaries
for SDHA gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SDHA:
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. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040
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

Gene Wiki entry for SDHA


Genomic Views
for SDHA gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000005.9  NC_018916.1  NT_006576.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SDHA gene promoter:
         GATA-3   p53   Brachyury   ATF-2   FOXD3   CUTL1   Ik-3   Evi-1   HOXA5   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SDHA promoter sequence
   Search SABiosciences Chromatin IP Primers for SDHA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SDHA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p15   Ensembl cytogenetic band:  5p15.33   HGNC cytogenetic band: 5p15

SDHA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SDHA gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P000208:  view genomic region     (about GC identifiers)

Start:
 218,356 bp from pter      End:
 256,815 bp from pter
Size:
 38,460 bases      Orientation:
 plus strand

Proteins
for SDHA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040 (See protein sequence)
Recommended Name: Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial precursor  
Size: 664 amino acids; 72692 Da
Cofactor: FAD
Subunit: 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
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Miscellaneous: The complex, present in mitochondria, can be degraded to form EC 1.3.99.1, which no longer reacts with
ubiquinone
Sequence caution: Sequence=CAA37886.1; Type=Miscellaneous discrepancy; Note=Differs extensively from that shown;
Secondary accessions: A8K5J6 Q16395 Q9UMY5

Explore the universe of human proteins at neXtProt for SDHA: NX_P31040

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P31040

    • 4/26 DME Specific Peptides for SDHA (P31040) (see all 26)
     QYPVVDH  EDGSIHR  WNTDLVE  NAGEESV 

    SDHA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004159.2  
    ENSEMBL proteins: 
     ENSP00000264932   ENSP00000426514   ENSP00000427703   ENSP00000425077   ENSP00000422404  
     ENSP00000421911  
    Reactome Protein details: P31040
    Human Recombinant Protein Products: 
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    Uscn Proteins for SDHA

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA7550341
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005749mitochondrial respiratory chain complex II TAS7550341


    SDHA for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SDHA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    SDHA for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR011281 Succ_DH_flav_su_fwd
     IPR015939 Fum_Rdtase/Succ_DH_flav-like_C
     IPR003952 FRD_SDH_FAD_BS
     IPR003953 FAD_bind_dom
     IPR014006 Succ_Dhase_FrdA_Gneg

    Graphical View of Domain Structure for InterPro Entry P31040

    ProtoNet protein and cluster: P31040

    1 Blocks protein family: IPB003952 Fumarate reductase/succinate dehydrogenase

    UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040
    Similarity: Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily


    Function
    for SDHA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040
    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
    Catalytic activity: Succinate + ubiquinone = fumarate + ubiquinol

         Genatlas biochemistry entry for SDHA:
    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

    Enzyme Number (IUBMB): EC 1.3.5.11 2

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: SDHA 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SDHA (see all 7)
    OriGene shRNA RFP: SDHA
    OriGene siRNA: SDHA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SDHA

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for SDHA

    Clone
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHA 

    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000104contributes to succinate dehydrogenase activity IMP7550341
    GO:0005515protein binding IPI19688755
    GO:0008177succinate dehydrogenase (ubiquinone) activity IEA--
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0050660flavin adenine dinucleotide binding IEA--


    SDHA for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SDHA:
     Decreased Salmonella enterica  


    Pathways & Interactions
    for SDHA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    		Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.1.00
    		Oxidative phosphorylation0.63
    		Respiratory electron transport0.81
    		Parkinson's disease0.61
    		Electron Transport Chain0.76
    		Alzheimer's disease0.43
    		The citric acid (TCA) cycle and respiratory electron transport0.72
    		Huntington's disease0.40
    2TCA Cycle
    		TCA Cycle1.00
    		Pyruvate metabolism and Citric Acid (TCA) cycle0.64
    		Citrate cycle (TCA cycle)0.65
    3Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38
    4TCA cycle II (eukaryotic)
    		TCA cycle II (eukaryotic)1.00
    		Citric acid cycle (TCA cycle)0.67
    5Glucose / Energy Metabolism
    		Glucose / Energy Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for SDHA
        Glucose / Energy Metabolism

    3 BioSystems Pathways for SDHA 
        TCA Cycle
    Electron Transport Chain
    TCA cycle II (eukaryotic)

    5/6        Reactome Pathways for SDHA (see all 6)
        Pyruvate metabolism and Citric Acid (TCA) cycle
    Respiratory electron transport
    Metabolism
    Citric acid cycle (TCA cycle)
    Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.


    5/6         Kegg Pathways  (Kegg details for SDHA) (see all 6):
        Citrate cycle (TCA cycle)
    Oxidative phosphorylation
    Metabolic pathways
    Alzheimer's disease
    Parkinson's disease

    UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040
    Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1


    SDHA for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SDHA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

    5/84 Interacting proteins for SDHA (P310401, 2, 3 ENSP000002649324) via UniProtKB, MINT, STRING, and/or I2D (see all 84)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SDHBP219121, 3, ENSP000003646494EBI-1057265,EBI-1056481 I2D: score=8 STRING: ENSP00000364649
    CSNK2BP678702, 3MINT-8253638 I2D: score=2 
    ETFAP138043, ENSP000002679504I2D: score=1 STRING: ENSP00000267950
    FHP079543, ENSP000003555184I2D: score=1 STRING: ENSP00000355518
    HLA-BP304803, ENSP000003991684I2D: score=1 STRING: ENSP00000399168
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0006105succinate metabolic process IDA7550341
    GO:0007399nervous system development IMP16361598
    GO:0022900electron transport chain ----
    GO:0022904respiratory electron transport chain TAS--


    SDHA for ontologies           About GeneDecksing



    Drugs & Compounds
    for SDHA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    SDHA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SDHA

    9 HMDB Compounds for SDHA    About this table
    CompoundSynonyms CAS #PubMed Ids
    FAD1H-Purin-6-amine flavin dinucleotide (see all 21)146-14-5--
    Fumaric acid(2E)-But-2-enedioate (see all 22)110-17-8--
    IronArmco iron (see all 19)7439-89-6--
    QH2CoQH2 (see all 5)56275-39-9--
    Succinic acid1,2-Ethanedicarboxylate (see all 11)110-15-6--
    SulfideSulfide (see all 4)18496-25-8--
    Ubiquinol 8ubiquinol-8 (see all 2)56275-39-9--
    Ubiquinone Q1Coenzyme Q (see all 9)727-81-1--
    Ubiquinone Q22-(3,7-dimethyl-2,6-octadienyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione (see all 7)606-06-4--

    5 DrugBank Compounds for SDHA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--16484232 10779596 17139284 17016423 12231007
    2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol-- --target--10592235
    Carboxin2,3-Dihydro-5-carboxanilido-6-methyl-1,4-oxathiin (see all 6)5234-68-4target--10592235
    Thenoyltrifluoroacetone.alpha.-Thenoyltrifluoroacetone (see all 7)326-91-0target--10592235
    UBIQUINONE-1-- --target--10592235

    8 Novoseek chemical compound relationships for SDHA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    succinate 86.9 32 9467555 (3), 10199764 (2), 17376234 (2), 11404820 (1) (see all 25)
    iron-sulfur 76.4 8 11692162 (1), 8161512 (1), 10799306 (1), 9533030 (1) (see all 8)
    glyceraldehyde 3-phosphate 58.7 4 17026756 (1), 19036168 (1), 17324259 (1), 18460208 (1)
    ubiquinone 42.4 1 15989954 (1)
    flavin 38.2 3 12699430 (1), 7798181 (1)
    nadh 31.5 9 8161512 (1), 15250765 (1), 9396029 (1)
    nad+ 26.7 2 15250765 (1), 9396029 (1)
    oxygen 0 2 11692162 (1), 17376234 (1)

    Search CenterWatch for drugs/clinical trials and news about SDHA / DHSA 

    Transcripts
    for SDHA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SDHA gene: 
    NM_004168.2  

    Unigene Cluster for SDHA:

    Succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
    Hs.440475  [show with all ESTs]
    Unigene Representative Sequence: NM_004168
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000264932(uc003jao.4 uc011clw.2 uc021xvu.1) ENST00000504309
    ENST00000506138 ENST00000502379 ENST00000505555(uc011clv.1) ENST00000510361
    ENST00000509632 ENST00000504824 ENST00000509420 ENST00000514027(uc003jaq.4)
    ENST00000514233 ENST00000512962 ENST00000515752 ENST00000511810 ENST00000515815
    ENST00000509082 ENST00000503674 ENST00000507266

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    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA sequence: 

    AB208991.1 AK094879.1 AK225027.1 AK291311.1 AK295937.1 AK302524.1 BC001380.2 BC004328.1 
    BC041016.1 D30648.1 L21936.1 

    24/38 DOTS entries (see all 38):

    DT.95100115  DT.97817039  DT.454057  DT.100879599  DT.120852151  DT.120852084  DT.92464244  DT.91864402 
    DT.100879621  DT.102843654  DT.120852170  DT.100879608  DT.120852132  DT.97860756  DT.120852137  DT.95100142 
    DT.120852102  DT.92464258  DT.100725649  DT.120852080  DT.120852152  DT.120852163  DT.92464266  DT.95100124 

    24/571 AceView cDNA sequences (see all 571):

    F06126 BM808232 BP378905 BM853966 AA480637 BX339977 BC001380 BE902398 
    BU542449 BM826249 BG479336 BX405138 BQ709821 BM679157 BQ009493 AK094879 
    BQ959961 AA679148 BG823073 BU173959 AI887650 BQ220377 CA502742 CF128727 

    GeneLoc Exon Structure


    Expression
    for SDHA gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SDHA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCATAACTGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See SDHA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SDHA

    SOURCE GeneReport for Unigene cluster: Hs.440475
        SABiosciences Expression via Pathway-Focused PCR Arrays including SDHA: 
              Mitochondrial Energy Metabolism in human mouse rat
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              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

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    In Situ
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    Orthologs
    for SDHA gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for SDHA gene from 11/41 species (see all 41)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Sdha1 , 5 succinate dehydrogenase complex, subunit A, flavoprotein (Fp) less1, 5 86.65(n)1
    94.88(a)1    		   13 (40.15 cM)5
    669451  NM_023281.11  NP_075770.11 
     743222545 
    chicken
    (Gallus gallus)    		 Aves SDHA1 succinate dehydrogenase complex, subunit A, flavoprotein (Fp) less 77.96(n)
    89.16(a)    		   395758  XM_419054.3  XP_419054.2 
    lizard
    (Anolis carolinensis)    		 Reptilia SDHA6
    		 --
    		 89(a)
    		 1 ↔ 1
    		 6(56572378-56594714)
    African clawed frog
    (Xenopus laevis)    		 Amphibia MGC685182 hypothetical protein MGC68518 77.65(n)    BC060446.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc560512 similar to succinate dehydrogenase complex, subunit A, flavoprotein (Fp) less 77.01(n)   393884  BC045885.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Scs-fp3
    SdhA1    		 tricarboxylic acid cycle succinate-CoA
    ligase (GDP-forming) less3
    Succinate dehydrogenase A1    		 73(a)
    (best of 2)3
    68.13(n)1
    74.66(a)1    		   2 56D33
    372281  NM_166344.21  NP_725882.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea C03G5.13
    sdha-11    		 succinate dehydrogenase flavoprotein subunit3
    Protein SDHA-11    		 72(a)
    (best of 2)3
    64.52(n)1
    73.39(a)1    		   X(8578453-8581258)3
    1811081  NM_077045.41  NP_509446.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes SDH1(YKL148C)4
    YJL045W1    		 Flavoprotein subunit of succinate dehydrogenase (Sdh1p, Sdh2p, Sdh3p, Sdh4p), which couples the oxidation of succinate to the transfer of electrons to ubiquinone as part of the TCA cycle and the mitochondrial respiratory chain less4
    hypothetical protein1    		 61.79(n)1
    68.4(a)1    		   11(171129-169207)4
    8534051  NP_012490.11  8537094 
     NP_012774.14 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons SDH1-11 succinate dehydrogenase [ubiquinone] flavoprotein subunit 1 less 64.04(n)
    70.81(a)    		   836809  NM_126074.2  NP_201477.1 
    rice
    (Oryza sativa)    		 Liliopsida Os.225812 Oryza sativa (japonica cultivar-group) cDNA cloneJ013023D02, full insert sequence less 73.38(n)    AK099460.1 


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

    Paralogs
    for SDHA gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SDHA gene

    SDHA for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for SDHA
    PGOHUM00000250273 PGOHUM00000250275 PGOHUM00000250313 PGOHUM00000251283


    Genomic Variants
    for SDHA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1167 NCBI SNPs in SDHA are shown (see all 1167)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 5 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs98092191,2
    		C,Fpathogenic4004826(+) TTGACC/TGGGGT 2 R W mis12Minor allele frequency- T:0.50NA 4
    rs10615171,2
    		Cpathogenic4037579(+) CAGACA/C/GTGTCG 3 M L V mis1 ese31NA 2
    rs623465221,2
    		--207089(+) CGAGGC/TCGCGC 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs751387661,2
    		C,F,--207138(+) CCCCCC/AAAAAA 1 -- us2k14Minor allele frequency- A:0.13WA NA 242
    rs1128795151,2
    		C,--207162(+) AAAGG-/AAAAAA 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs284160841,2
    		C,F,H,--207530(+) ACACCG/AGACAC 1 -- us2k114Minor allele frequency- A:0.11NS EA WA NA 2076
    rs737307671,2
    		C,--207535(+) GGACAT/CTTTCA 1 -- us2k12Minor allele frequency- C:0.25WA 4
    rs21152731,2
    		C,F,A,H,--207811(-) GAAACT/CTCGTG 1 -- us2k112Minor allele frequency- C:0.05EA NS NA 1602
    rs37567171,2
    		C,F,--207861(-) TGGAGG/TTCACA 1 -- us2k16Minor allele frequency- T:0.09NA WA CSA EA 364
    rs37567151,2
    		C,--207926(-) CTCCGA/GCCTCT 1 -- us2k15Minor allele frequency- G:0.35WA NA CSA 244

    HapMap Linkage Disequilibrium report for SDHA (218356 - 256815 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 17 variations for SDHA
         15/17 CNVs (see all 17): 80745 32688 32689 92775 92773 92767 92776 3536 92766 92771 92769 80741 80743 8470 80744
    Human Gene Mutation Database (HGMD): SDHA

    Locus Specific Mutation Databases (LSDB): SDHA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SDHA
    DNA2.0 Custom Variant and Variant Library Synthesis for SDHA

    Disorders / Diseases
    for SDHA gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    SDHA for disorders           About GeneDecksing

    OMIM gene information: 600857   
    OMIM disorders: 256000  252011  613642  
    UniProtKB/Swiss-Prot: DHSA_HUMAN, P31040
  • Defects in SDHA are a cause of 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
  • Defects in SDHA are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe disorder characterized by
    • bilaterally symmetrical necrotic lesions in subcortical brain regions
  • Defects in SDHA are the cause of cardiomyopathy dilated type 1GG (CMD1GG) [MIM:613642]. CMD1GG is a disorder
    • characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and
    arrhythmia. Patients are at risk of premature death
  • Defects in SDHA are the cause of paragangliomas type 5 (PGL5) [MIM:614165]. A neural crest tumor usually
    • derived from the chromoreceptor tissue of a paraganglion. Paragangliomas are most commonly located in the head and
    neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear

    20/41 diseases for SDHA (see all 41):    About MalaCards
    mitochondrial respiratory chain complex ii deficiency    von hippel-lindau disease    kearns-sayre syndrome    seminal vesicle tumor
    cardiomyopathy, dilated, 1gg    leber hereditary optic neuropathy    mitochondrial complex ii deficiency    carney triad
    neural crest tumor    complex partial epilepsy    spastic quadriplegia    gastrointestinal stromal tumor
    quadriplegia    eye disease    paraganglioma    optic atrophy
    chondroma    neurodegenerative disease    acute myocarditis    hyperthyroidism

    3 diseases from the University of Copenhagen DISEASES database for SDHA:
    Paraganglioma     Leigh disease     Seminal vesicle tumor

    10/11 Novoseek disease relationships for SDHA gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    thyroid-associated ophthalmopathy 90.1 1 11952037 (1)
    paraganglioma 75.2 3 11404820 (1), 11692162 (1), 16288654 (1)
    leigh syndrome 72.6 4 12794685 (1), 16288654 (1), 16361598 (1)
    hyperthyroidism 67.7 5 9467555 (2), 10199764 (1), 18568642 (1), 11952037 (1)
    hashimotos thyroiditis 61.5 1 11952037 (1)
    pheochromocytoma 56.1 1 16288654 (1)
    eye diseases 51.8 1 17042681 (1)
    autoimmunity 49.3 2 12568121 (1), 15164997 (1)
    neurodegenerative diseases 27.9 1 15795514 (1)
    tumors 8.9 1 17551252 (1)

    Genatlas disease: SDHA
    lactate acidosis,Leigh syndrome presenting as a leukodystrophy

    Human Genome Epidemiology (HuGE) Navigator: SDHA (3 documents)

    Export disorders for SDHA gene to outside databases

    Publications
    for SDHA gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SDHA gene, integrated from 9 sources (see all 101):
    (articles sorted by number of sources associating them with SDHA)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria. (PubMed id 7798181)1, 2, 3, 9 Hirawake H.... Kita K. (1994)
    2. Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II. (PubMed id 12794685)1, 2, 9 Van Coster R.... Lissens W. (2003)
    3. Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. (PubMed id 10746566)1, 2, 9 Parfait B.... Rustin P. (2000)
    4. Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. (PubMed id 20551992)1, 2 Levitas A.... Parvari R. (2010)
    5. SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. (PubMed id 19628817)1, 2 Hao H.-X.... Rutter J. (2009)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PubMed id 15242332)1, 2 Aboulaich N.... Vener A.V. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. (PubMed id 7550341)1, 2 Bourgeron T.... Roetig A. (1995)
    10. The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase. (PubMed id 8142412)1, 2 Morris A.A.M....Birch-MacHin M.A. (1994)

    External Searches for SDHA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing SDHA gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6389 HGNC: 10680 AceView: SDHA Ensembl:ENSG00000073578 euGenes: HUgn6389
    ECgene: SDHA Kegg: 6389 H-InvDB: SDHA

    Other Databases showing SDHA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SDHA gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SDHA Pharmacogenomics, SNPs, Pathways
    TCA Cycle Gene Mutation Databasehttp://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHA
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SDHA

    Intellectual Property
    for SDHA gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for SDHA gene:
    Search GeneIP for patents involving SDHA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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