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

SDHB Gene

protein-coding   GIFtS: 69
GCID: GC01M017345

Succinate Dehydrogenase Complex, Subunit B, Iron Sulfur...


(Previous symbols: SDH1, SDH)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Succinate Dehydrogenase Complex, Subunit B, Iron Sulfur (Ip)1 2     SDH22 5
SDH1 2 3     SDHIP2 5
SDH11 2 3     CWS22
Iron-Sulfur Subunit Of Complex II2 3     IP2
EC 1.3.5.13 8     Succinate Dehydrogenase [Ubiquinone] Iron-Sulfur Subunit, Mitochondrial2
PGL42 5     Ip3

External Ids:    HGNC: 106811   Entrez Gene: 63902   Ensembl: ENSG000001171187   OMIM: 1854705   UniProtKB: P219123   

Export aliases for SDHB gene to outside databases

Previous GC identifers: GC01M017082 GC01M016386 GC01M016726 GC01M017090 GC01M017217 GC01M015589


(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 SDHB Gene:
Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries
electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the
mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich
clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene
result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and
tumorigenesis. (provided by RefSeq, Jul 2008)

GeneCards Summary for SDHB Gene: 
SDHB (succinate dehydrogenase complex, subunit B, iron sulfur (Ip)) is a protein-coding gene. Diseases associated with SDHB include pheochromocytoma, and phaeochromocytoma, and among its related super-pathways are Citric acid cycle (TCA cycle) and Electron Transport Chain. GO annotations related to this gene include electron carrier activity and 2 iron, 2 sulfur cluster binding.

UniProtKB/Swiss-Prot: DHSB_HUMAN, P21912
Function: Iron-sulfur protein (IP) 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)

Gene Wiki entry for SDHB 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.2  NT_004610.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SDHB gene promoter:
         TBP   Lmo2   Nkx2-5   c-Ets-1   PPAR-gamma1   TFIID   PPAR-gamma2   ZID   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSDHB promoter sequence
   Search SABiosciences Chromatin IP Primers for SDHB

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


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

Entrez Gene cytogenetic band: 1p36.1-p35   Ensembl cytogenetic band:  1p36.13   HGNC cytogenetic band: 1p36.1-p35

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M017345:  view genomic region     (about GC identifiers)

Start:
17,345,217 bp from pter      End:
17,380,665 bp from pter
Size:
35,449 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: DHSB_HUMAN, P21912 (See protein sequence)
Recommended Name: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial precursor  
Size: 280 amino acids; 31630 Da
Cofactor: Binds 1 2Fe-2S cluster (By similarity)
Cofactor: Binds 1 3Fe-4S cluster (By similarity)
Cofactor: Binds 1 4Fe-4S cluster (By similarity)
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
Subcellular location: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side
Secondary accessions: B2R545 Q9NQ12

Explore the universe of human proteins at neXtProt for SDHB: NX_P21912

Explore proteomics data for SDHB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P21912

  • 4/9 DME Specific Peptides for SDHB (P21912) (see all 9)
     YLGPAVL  QYKSIEP  GKQQYLQS  LNPGKAIA 

    SDHB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SDHB Protein Expression
    REFSEQ proteins: NP_002991.2  
    ENSEMBL proteins: 
     ENSP00000364649  
    Reactome Protein details: P21912
    Human Recombinant Protein Products for SDHB: 
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    Cloud-Clone Corp. Proteins for SDHB 

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

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

    SDHB for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    comII: Mitochondrial respiratory chain complex / Complex II

    5/9 InterPro protein domains (see all 9):
     IPR001041 2Fe-2S_ferredoxin-type
     IPR012675 Beta-grasp_dom
     IPR025192 Succ_DH/fum_Rdtase_N
     IPR012285 Fum_reductase_C
     IPR006058 2Fe2S_fd_BS

    Graphical View of Domain Structure for InterPro Entry P21912

    ProtoNet protein and cluster: P21912

    1 Blocks protein domain: IPB001041 Ferredoxin

    UniProtKB/Swiss-Prot: DHSB_HUMAN, P21912
    Similarity: Belongs to the succinate dehydrogenase/fumarate reductase iron-sulfur protein family
    Similarity: Contains 1 2Fe-2S ferredoxin-type domain
    Similarity: Contains 1 4Fe-4S ferredoxin-type domain


    SDHB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DHSB_HUMAN, P21912
    Function: Iron-sulfur protein (IP) 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)
    Catalytic activity: Succinate + ubiquinone = fumarate + ubiquinol

         Genatlas biochemistry entry for SDHB:
    succinate dehydrogenase 1,iron sulfur protein,inner mitochondrial membrane, component,27.4kDa,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

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15961414
    GO:0008177succinate dehydrogenase (ubiquinone) activity IEA--
    GO:0009055electron carrier activity IEA--
    GO:0016491oxidoreductase activity ----
    GO:0046872metal ion binding IEA--
         
    SDHB for ontologies           About GeneDecksing


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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for SDHB About   (see all 6)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.89
    TCA cycle0.84
    TCA Cycle0.89
    Citrate cycle (TCA cycle)0.58
    2Respiratory 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.0.81
    Parkinson's disease0.61
    Respiratory electron transport0.81
    Huntington's disease0.47
    Electron Transport Chain0.75
    Alzheimer's disease0.46
    The citric acid (TCA) cycle and respiratory electron transport0.72
    Non-alcoholic fatty liver disease (NAFLD)0.41
    3Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    4Pyruvate metabolism
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    5Glycolysis and gluconeogenesis (short map)
    Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for SDHB
        TCA Cycle
    Electron Transport Chain
    TCA cycle
    Conversion of glucose to acetyl CoA and entry into the TCA cycle

    5/6        Reactome Pathways for SDHB (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.


    5/8         Kegg Pathways  (Kegg details for SDHB) (see all 8):
        Citrate cycle (TCA cycle)
    Oxidative phosphorylation
    Metabolic pathways
    Carbon metabolism
    Non-alcoholic fatty liver disease (NAFLD)

    UniProtKB/Swiss-Prot: DHSB_HUMAN, P21912
    Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1


    SDHB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SDHB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/88 Interacting proteins for SDHB (P219121, 2, 3 ENSP000003646494) via UniProtKB, MINT, STRING, and/or I2D (see all 88)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    SPRY2O435972, 3, ENSP000003663064MINT-8272050 I2D: score=2 STRING: ENSP00000366306
    SDHAP310401, 3, ENSP000002649324EBI-1056481,EBI-1057265 I2D: score=8 STRING: ENSP00000264932
    CDAP323203, ENSP000003642124I2D: score=5 STRING: ENSP00000364212
    PIK3R5Q8WYR13, ENSP000002693004I2D: score=2 STRING: ENSP00000269300
    CTPS1P178123, ENSP000003616994I2D: score=1 STRING: ENSP00000361699
    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 IEA--
    GO:0009060aerobic respiration TAS2302193
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--

    SDHB for ontologies           About GeneDecksing



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

    SDHB for compounds           About GeneDecksing

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

    Browse Tocris compounds for SDHB (DHSB)

    9 HMDB Compounds for SDHB    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--

    3 DrugBank Compounds for SDHB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--16288654 17636259 16232421 17520677 16405730
    2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol-- --target--10592235
    UBIQUINONE-1-- --target--10592235

    10/64 Novoseek inferred chemical compound relationships for SDHB gene (see all 64)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    succinate 95.9 336 16892081 (3), 7833834 (3), 7622334 (3), 8487494 (2) (see all 99)
    fumarate 68.1 16 16892081 (3), 19778456 (2), 7622334 (2), 17325041 (1) (see all 12)
    iron-sulfur 64 17 19233206 (2), 11692162 (1), 8161512 (1), 7958999 (1) (see all 13)
    alpha-ketoglutarate 62.2 9 19028544 (2), 15337301 (1), 17668068 (1), 16906525 (1) (see all 5)
    3-nitropropionic acid 61 31 9453576 (4), 7798946 (3), 7689641 (2), 17011837 (1) (see all 6)
    mannitol 59.2 57 8344129 (4), 18760274 (3), 16483355 (2), 18566893 (2) (see all 27)
    mibg 58.8 2 17898811 (1), 19864450 (1)
    glycerol 3-phosphate 58.6 11 8167100 (1), 12632195 (1), 2167865 (1), 1816079 (1) (see all 10)
    thenoyltrifluoroacetone 55.7 4 10693744 (1), 7622334 (1)
    methylmalonic acid 55.3 7 12895456 (2), 8929440 (1), 16469366 (1), 19073247 (1)

    Search CenterWatch for drugs/clinical trials and news about SDHB / DHSB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    About This Section

    REFSEQ mRNAs for SDHB gene: 
    NM_003000.2  

    Unigene Cluster for SDHB:

    Succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
    Hs.465924  [show with all ESTs]
    Unigene Representative Sequence: BQ073692
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375499(uc001bae.3) ENST00000485092 ENST00000475049 ENST00000485515
    ENST00000491274 ENST00000475506 ENST00000463045 ENST00000466613

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    Additional mRNA sequence: 

    AK312056.1 BC007840.2 D10245.1 M32246.1 U17248.1 

    14 DOTS entries:

    DT.118174  DT.100883438  DT.100698505  DT.91752291  DT.101975035  DT.91732755  DT.100883432  DT.100883437 
    DT.121451924  DT.95322231  DT.95322232  DT.99943940  DT.121451899  DT.95322230 

    24/335 AceView cDNA sequences (see all 335):

    BM989497 CD364613 CD742634 F31160 CB162078 N34666 CD105760 CD366559 
    BQ001365 CB306362 AA169839 AA169559 BQ181265 BM789508 CR610874 CB158714 
    AW296192 CR593493 CR596635 CB156477 BU789942 BQ218209 AA371546 AW627604 

    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

    SDHB expression in normal human tissues (normalized intensities)      SDHB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATAATAAAA
    SDHB Expression
    About this image


    SDHB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/39 selected tissues (see all 39) fully expand
     
     Brain (Nervous System)    fully expand to see all 12 entries
             Cerebral Cortex
             ganglion/cranial   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             heart muscle ; myocytes   
             heart/ventricle   
     
     Lung (Respiratory System)    fully expand to see all 3 entries
             Trachea
             bronchus ; respiratory epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 3 entries
             uterus, post-menopause ; glandular cells   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             urinary bladder ; urothelial cells   
             visceral organ   

    See SDHB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SDHB

    SOURCE GeneReport for Unigene cluster: Hs.465924
        SABiosciences Expression via Pathway-Focused PCR Arrays including SDHB: 
              Mitochondrial Energy Metabolism 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 common ancestor of eukaryotes.

    Orthologs for SDHB gene from 10/29 species (see all 29)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sdhb1 , 5 succinate dehydrogenase complex, subunit B, iron sulfur more1, 5 85.85(n)1
    92.45(a)1
      4 (73.24 cM)5
    676801  NM_023374.31  NP_075863.21 
     1409612035 
    chicken
    (Gallus gallus)
    Aves SDHB1 succinate dehydrogenase complex, subunit B, iron sulfur more 79.5(n)
    86.69(a)
      770063  NM_001080875.1  NP_001074344.1 
    lizard
    (Anolis carolinensis)
    Reptilia SDHB6
    Uncharacterized protein
    72(a)
    1 ↔ 1
    GL344735.1(1385-15034)
    African clawed frog
    (Xenopus laevis)
    Amphibia sdhb-prov2 succinate dehydrogenase complex, subunit B, iron sulfur more 80.96(n)    BC043859.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sdhb1 succinate dehydrogenase complex, subunit B, iron sulfur more 76.52(n)
    84.67(a)
      562149  NM_001098740.1  NP_001092210.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SdhB1 , 3 tricarboxylic acid cycle succinate
    dehydrogenase more3
    Succinate dehydrogenase B1
    75(a)
    (best of 2)3
    65.34(n)1
    70.29(a)1
      2 42D13
    355901  NM_057753.41  NP_477101.11 
    worm
    (Caenorhabditis elegans)
    Secernentea F42A8.23
    sdhb-11
    succinate dehydrogenase (ubiquinone)
    iron sulphur more3
    Protein SDHB-11
    66(a)3
    62.95(n)1
    63.94(a)1
      II(9350781-9352642)3
    1744821  NM_063591.51  NP_495992.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes SDH2(YLL041C)4
    SDH21
    Iron-sulfur protein subunit of succinate dehydrogenase more4
    Sdh2p1
    65.6(n)1
    72.69(a)1
      12(53931-53131)4
    8506851, 4  NP_013059.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons SDH2-31 succinate dehydrogenase [ubiquinone] iron-sulfur subunit more 60.65(n)
    62.11(a)
      836640  NM_148160.2  NP_680465.2 
    rice
    (Oryza sativa)
    Liliopsida Os.54992 Oryza sativa (japonica cultivar-group) mRNA for mitochondrial more 75.36(n)    AK099077.1 


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

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

    SDHB for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for SDHB
    PGOHUM00000238204


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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

    10/841 SNPs in SDHB are shown (see all 841)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0543794
    Pheochromocytoma (PCC)4--see VAR_0543792 L H mis40--------
    VAR_0543764
    Pheochromocytoma (PCC)4--see VAR_0543762 A P mis40--------
    VAR_0543804
    Pheochromocytoma (PCC)4--see VAR_0543802 L P mis40--------
    VAR_0350674
    Pheochromocytoma (PCC)4--see VAR_0350672 C Y mis40--------
    VAR_0376214
    Paragangliomas 4 (PGL4)4--see VAR_0376212 H P mis40--------
    VAR_0350664
    Pheochromocytoma (PCC)4--see VAR_0350662 C R mis40--------
    VAR_0350654
    Pheochromocytoma (PCC)4--see VAR_0350652 C Y mis40--------
    VAR_0543784
    Pheochromocytoma (PCC)4--see VAR_0543782 G R mis40--------
    VAR_0178684
    Paragangliomas 4 (PGL4)4--see VAR_0178682 P R mis40--------
    VAR_0185174
    Pheochromocytoma (PCC)4--see VAR_0185172 L S mis40--------

    HapMap Linkage Disequilibrium report for SDHB (17345217 - 17380665 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for SDHB:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2662800CNV Deletion23128226
    nsv834269CNV Loss17160897
    nsv834280CNV Loss17160897
    nsv428421CNV Gain+Loss18775914
    dgv40e1CNV Complex17122850
    dgv29e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): SDHB

    Locus Specific Mutation Databases (LSDB): SDHB
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for SDHB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 185470   
    OMIM disorders: 115310  171300  606864  612359  
    UniProtKB/Swiss-Prot: DHSB_HUMAN, P21912
  • Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal
    medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and
    norepinephrine, is hypertension, which may be persistent or intermittent. Note=Disease susceptibility is
    associated with variations affecting the gene represented in this entry
  • Paragangliomas 4 (PGL4) [MIM:115310]: 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. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: Gastrointestinal stromal tumors may be
    sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with
    other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal
    stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant
    manner, with incomplete penetrance. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Cowden syndrome 2 (CWS2) [MIM:612359]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with
    age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of
    ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair
    follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several
    types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon
    cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but
    most commonly in the skin, gastrointestinal tract, breast and thyroid. Note=The disease may be caused by
    mutations affecting the gene represented in this entry

  • 20/86 diseases for SDHB (see all 86):    About MalaCards
    pheochromocytoma    phaeochromocytoma    carney triad    paraganglioma and gastric stromal sarcoma
    sdhb-related hereditary paraganglioma-pheochromocytoma syndrome    sdhb-related paraganglioma and gastric stromal sarcoma    paraganglioma, familial chromaffin, 4    paraganglioma
    cowden-like syndrome    leigh syndrome with leukodystrophy    hereditary paraganglioma-pheochromocytoma syndromes    vhl-related pheochromocytoma
    neural crest tumor    seminal vesicle tumor    gastrointestinal stromal tumor    multiple symmetric lipomatosis
    multiple symmetrical lipomatosis    mitochondrial complex ii deficiency    carotid body tumor    von hippel-lindau disease

    6 diseases from the University of Copenhagen DISEASES database for SDHB:
    Paraganglioma     Phaeochromocytoma     Hemangioma     Neurofibromatosis
    Gastrointestinal stromal tumor     Chondroma

    SDHB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/55 Novoseek inferred disease relationships for SDHB gene (see all 55)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraganglioma 96.1 258 19576851 (7), 18551016 (6), 18362451 (6), 18382370 (6) (see all 99)
    pheochromocytoma 91 223 17308434 (7), 19576851 (7), 12618761 (6), 19215943 (5) (see all 99)
    paraganglioma extra-adrenal 83 3 18509008 (1), 20498024 (1), 18551016 (1)
    multiple endocrine neoplasia 82.7 16 15788647 (1), 15988378 (1), 17121518 (1), 15531530 (1) (see all 15)
    von hippel-lindau disease 82.2 13 16001332 (1), 15988378 (1), 17121518 (1), 12928344 (1) (see all 12)
    neurofibromatosis type 1 74.5 21 15788647 (1), 16001332 (1), 15988378 (1), 17121518 (1) (see all 18)
    carotid body tumor 72 2 17041923 (1), 12381538 (1)
    carney triad 68.1 1 19522821 (1)
    hlrcc 67.6 1 15987702 (1)
    germ-line mutation 59.8 8 14500403 (2), 17159241 (1), 19223516 (1), 19763184 (1) (see all 6)

    GeneTests: SDHB
    GeneReviews: SDHB
    Genetic Association Database (GAD): SDHB
    Human Genome Epidemiology (HuGE) Navigator: SDHB (38 documents)

    Export disorders for SDHB 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 SDHB gene, integrated from 9 sources (see all 472):
    (articles sorted by number of sources associating them with SDHB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (PubMed id 15328326)1, 2, 4, 9 Neumann H.P.H.... Eng C. (2004)
    2. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. (PubMed id 11897817)1, 2, 4, 9 Baysal B.E.... Rubinstein W.S. (2002)
    3. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. (PubMed id 18678321)1, 2, 4, 9 Ni Y.... Eng C. (2008)
    4. Germ-line mutations in nonsyndromic pheochromocytoma. (PubMed id 12000816)1, 2, 4, 9 Neumann H.P.H.... Eng C. (2002)
    5. Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene. (PubMed id 12213855)1, 2, 4, 9 Young A.L.... Young W.F. Jr. (2002)
    6. Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas. (PubMed id 12618761)1, 2, 9 Benn D.E.... Robinson B.G. (2003)
    7. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. (PubMed id 14500403)2, 4, 9 Gimenez-Roqueplo A.-P....Jeunemaitre X. (2003)
    8. High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing. (PubMed id 16912137)1, 4, 9 Brouwers F.M....Pacak K. (2006)
    9. High prevalence of SDHB mutations in head and neck paraganglioma in Belgium. (PubMed id 18551016)1, 4, 9 Persu A....Vikkula M. (2008)
    10. Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma. (PubMed id 16405730)1, 7, 9 Bayley J.P....Taschner P.E. (2006)

    (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: 6390 HGNC: 10681 AceView: SDHB Ensembl:ENSG00000117118 euGenes: HUgn6390
    ECgene: SDHB Kegg: 6390 H-InvDB: SDHB

    (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 SDHB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SDHB Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SDHB
    TCA Cycle Gene Mutation Databasehttp://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHB

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

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



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