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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 our new
 Human Malady Compendium 
Biological research products
for SDHA
    

(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


(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


(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 plasmidSDHA 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

(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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    (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


    (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

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    Inhib. RNA
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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 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



    (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 

    (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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    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 

    571 AceView cDNA sequences (see top 24):

    F06126 BM808232 BP378905 BM853966 AA480637 BX339977 BC001380 BE902398 
    BU542449 BM826249 BG479336 BX405138 BQ709821 BM679157 BQ009493 AK094879 
    BQ959961 AA679148 BG823073 BU173959 AI887650 BQ220377 CA502742 CF128727 
    CA429873 BE253474 CA443925 BQ050641 AL707070 CB153329 AA789066 BM792967 
    AU122719 AA738428 CB157045 BE790932 CA444762 BQ957705 BQ347959 BG338167 
    AI299949 CR624138 F02387 BU509053 AA340287 CB123972 BQ027485 AI817944 
    BP345906 CA434539 CB528304 BE382654 CR592508 AI307149 AU143731 BE734438 
    BQ672437 BU152637 AK131478 BQ890132 AU279614 AL559630 BU846083 M78107 
    BQ919910 BG335484 CB529921 BM550490 AA894593 BQ070379 AI735782 BI820484 
    AI207512 D30648 CD672868 BE617059 BM850237 BQ887411 BF475953 AA873774 
    CR616767 BI754284 AW517459 BU508582 BM837134 CD365904 AA345531 BE888532 
    BU618077 CB991622 CA424722 BI116442 BG764097 AA936684 BE792774 BG218702 
    AA745810 BQ929473 BM809698 BM840640 BQ214766 AL706964 CN481409 BQ020776 
    BF724910 BU164744 AW003399 BM821228 BU628755 BM924377 BQ082719 AA532984 
    AL560291 AI368558 BV202577 BE311537 BV202969 AL515675 BE868147 BU957728 
    BM790973 AA576083 BV202088 BG337590 BV203054 BE888720 CA450210 BG700917 
    BE730704 BU157247 BX445964 AA313770 BV207399 BQ068434 BE794621 BV202841 
    BE382850 BG774817 CA395637 BG114882 BI458313 BM923423 BI869269 BE871717 
    BP381183 AL518021 BQ887093 AW029624 BU845169 BP350734 BV184214 BQ230472 
    BG394312 BQ129991 AL121136 BM842209 BI254306 CF127410 CA424467 AV707721 
    AL516495 BI818909 BG337519 CD644664 BQ006453 BF436738 BV202786 AW662447 
    BI908976 AL581212 BG424627 BF981289 BX352110 AA211639 BE886435 BG470255 
    BE907693 BM044274 BQ424879 BI669055 BV202842 AI453718 BV202876 BE314996 
    BM044687 AU122308 CB156471 BI459431 BG706116 BQ348499 BF206145 BM808946 
    BV203062 BX446080 BQ430447 T70043 BX439768 AL539168 BE732076 NM_004168 
    BF794632 BE563415 BQ349214 BM832499 BV199999 CA495296 BU175089 BG723096 
    BM049674 BI002782 AW958694 BU945531 BE734365 BV207964 BG821630 AL557481 
    BE280726 BG422015 BQ723300 BG774766 AJ709521 BV203025 BQ230301 BC041016 
    AA251833 CF131475 F24185 CA427314 BG763434 CD049468 BU539353 BP378101 
    AL581671 BG769488 BG762818 BU681261 BP351391 BG912642 BE080693 BU165086 
    BQ940013 F36753 BI601938 BP356713 BQ960750 BG768915 BV202950 BE255912 
    BE262308 BE732941 BE784392 BE787005 BX281992 AK131350 AL523761 BU183535 
    BV202864 BG435062 BF311302 CB215692 BE902151 BE304824 AW732770 CB115661 
    BU728030 AA659703 BV202806 AU142536 BG828748 BE869724 L21936 AA317794 
    BI913093 BI458429 T73207 CK905787 CD513318 BM759270 BV199617 CF552744 
    BE222827 BM832489 BX355380 BE731177 BM043726 AA946947 F25375 BM792898 
    BI090000 BM796859 BP354561 BG481562 AV759166 BU517033 BG471655 BG480332 
    BI464152 BU943927 BI771157 AA609656 BG339323 AA452175 BU944622 BE744441 
    BE734209 AL560182 BM750811 BV202960 BV199681 AW103059 BE799641 BV202294 
    CB145217 BP358852 AA564839 BV202923 BG248291 BE676090 BE312094 BV199616 
    BG249135 BG114859 BE273519 BI602374 BE902624 BG686918 BU732633 CF552105 
    BI757684 BQ672890 BI755834 BE207739 BM010676 BG768570 BF529504 BG709607 
    BG770514 CF551807 BM755222 BE263107 BE279623 BM017549 BU618162 AL542161 
    BM550644 BM975179 BI761322 AW249703 BE797525 BI463934 AI094139 AA564565 
    BV208181 BV202787 BM556190 BE221064 BU526883 BM563438 BM462296 BG684847 
    BM809446 AA205842 BI601085 BM835090 BM829226 BI764274 BG424992 BE314150 
    CD558911 F21688 BM854123 CB150631 BI597245 AL569285 BQ654078 AI744961 
    BM910882 BV202990 BM708420 BP345903 BQ422493 BV206918 AW440258 BP358175 
    BP361093 AL559757 AI679245 BI598591 BV202979 BQ673375 AL557709 BM840264 
    BV203330 BQ649603 BG717079 BV202476 AA588054 BG026466 AA340873 BG774574 
    AA664058 BE513237 BF206271 BV199613 BM561797 AL567711 BQ130243 BV199614 
    BQ339676 BG723875 BQ378481 BG769362 BQ330478 BG028900 AW302594 BI562124 
    AU128313 BE260727 AA812421 BG117961 BQ315910 BF967218 AI952406 BE968641 
    BU730742 BG506369 AW337873 BI497078 AA211584 BX427307 AW674207 BE617573 
    AI332320 AI923416 BE264118 BF237678 AV759164 BI517833 BE735286 AA312675 
    BG699136 AL581905 BF317125 AW302365 AI042081 BE541875 BE280188 BG674102 
    BE901229 BF981959 AI289317 BG701327 AW514972 BG696635 BI197818 T23780 
    BF967946 BE797770 AI434211 BI115691 AA324445 AA400427 BI518245 CD690383 
    BG403128 BQ347843 AL523760 AW264769 BF316909 AI344768 BE513195 BG828352 
    AU098692 AW615518 BE903645 BI020799 BE907242 BI199869 BG899776 BM798522 
    BQ349215 BM757457 AI630324 BI260673 AL581308 BQ350047 BG912408 AA780681 
    BG286562 BG699984 BQ353781 AW733056 BM008885 AL560463 BI225023 AA976658 
    BU844706 BM850759 BG027731 BG765318 BQ347699 BG468266 BV202781 BG335341 
    AU147916 BM827757 BM688741 BV202785 AA181026 BQ354123 N74145 BI199223 
    AW080810 BM049608 AL518020 BQ316839 AI499048 BV202413 T92750 BF869343 
    T70233 AW381310 BF127460 AA186534 AA877984 AA862982 BQ347840 AA598744 
    BG897505 AW276280 BF764664 BE538425 BF031199 AI679821 BQ054111 BV207957 
    AI955454 BP363645 AJ707437 BU594832 F24909 BI195200 AW591189 BQ005361 
    AA301997 BQ350046 AI625297 BI197051 AI581531 BV207956 BE799319 BG327636 
    BM835819 AW189471 BQ051806 AL515674 AI246518 BE797616 AW511420 BG769446 
    AU159829 AW381032 AU148235 AI630678 T70109 AU160780 T92829 AU150617 
    AL581761 AA400428 AL579510 

    GeneLoc Exon Structure


    (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
              Housekeeping Genes PCR Array in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

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    (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 more1, 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 more 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 more 77.01(n)   393884  BC045885.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Scs-fp3
    SdhA1
    tricarboxylic acid cycle succinate-CoA
    ligase more3
    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, more4
    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 more 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 cloneJ more 73.38(n)    AK099460.1 


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

    (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


    (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
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    (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

    (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)

    (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)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHA
     SwitchGear 3'UTR luciferase reporter plasmids for SDHA
     SwitchGear Promoter luciferase reporter plasmids for SDHA
     ThermoFisher Antibodies for SDHA
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHA
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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