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SDHC Gene

protein-coding   GIFtS: 64
GCID: GC01P161285

Succinate Dehydrogenase Complex, Subunit C, Integral Membrane...

(Previous names: succinate dehydrogenase complex, subunit C, integral membrane...)
(Previous symbol: PGL3)
  See SDHC-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Succinate Dehydrogenase Complex, Subunit C, Integral Membrane Protein,
15kDa1 2
     Integral Membrane Protein CII-3b2
PGL31 2 5     Succinate Dehydrgenase Cytochrome B2
Succinate-Ubiquinone Oxidoreductase Cytochrome B Large Subunit2 3     Succinate Dehydrogenase 3, Integral Membrane Subunit2
CYB5602 3     Succinate Dehydrogenase Cytochrome B560 Subunit, Mitochondrial2
CYBL2 3     QPs-13
SDH32 3     QPs13
Succinate Dehydrogenase Complex, Subunit C, Integral Membrane Protein,
15kD1
     Integral Membrane Protein CII-33
QPS12     Succinate Dehydrogenase Complex Subunit C3
Cytochrome B Large Subunit Of Complex II2     

External Ids:    HGNC: 106821   Entrez Gene: 63912   Ensembl: ENSG000001432527   OMIM: 6024135   UniProtKB: Q996433   

Export aliases for SDHC gene to outside databases

Previous GC identifers: GC01P158995 GC01P157016 GC01P158061 GC01P158500 GC01P158097 GC01P159550 GC01P132641


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for SDHC Gene:
This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as
mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of
mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the
complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related
pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with
paragangliomas. Alternatively spliced transcript variants have been described. (provided by RefSeq, May 2013)

GeneCards Summary for SDHC Gene:
SDHC (succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa) is a protein-coding gene. Diseases associated with SDHC include sdhc-related paraganglioma and gastric stromal sarcoma, and paragangliomas 3. GO annotations related to this gene include electron carrier activity and succinate dehydrogenase activity.

UniProtKB/Swiss-Prot: C560_HUMAN, Q99643
Function: Membrane-anchoring 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 SDHC (Succinate dehydrogenase complex subunit C) 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000001.10  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the SDHC gene promoter:
         CREB   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSDHC promoter sequence
   Search Chromatin IP Primers for SDHC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SDHC


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

Entrez Gene cytogenetic band: 1q23.3   Ensembl cytogenetic band:  1q23.3   HGNC cytogenetic band: 1q23.3

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P161285:  view genomic region     (about GC identifiers)

Start:
161,284,047 bp from pter      End:
161,334,541 bp from pter
Size:
50,495 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: C560_HUMAN, Q99643 (See protein sequence)
Recommended Name: Succinate dehydrogenase cytochrome b560 subunit, mitochondrial precursor  
Size: 169 amino acids; 18610 Da
Cofactor: Heme group. The heme is bound between the two transmembrane subunits SDHC and SDHD (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
Secondary accessions: O75609 Q3C259 Q3C2D8 Q3C2H4 Q5VTH3
Alternative splicing: 5 isoforms:  Q99643-1   Q99643-2   Q99643-3   Q99643-4   Q99643-5   

Explore the universe of human proteins at neXtProt for SDHC: NX_Q99643

Explore proteomics data for SDHC at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SDHC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001030588.1  NP_001030589.1  NP_001030590.1  NP_001265101.1  NP_002992.1  

    ENSEMBL proteins: 
     ENSP00000356953   ENSP00000356952   ENSP00000390558   ENSP00000376009   ENSP00000423260  
     ENSP00000423929  
    Reactome Protein details: Q99643

    SDHC Human Recombinant Protein Products:

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    Novus Biologicals SDHC Protein
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SDHC

     
    Search eBioscience for Proteins for SDHC 

     
    antibodies-online proteins for SDHC (2 products) 

     
    antibodies-online peptides for SDHC

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    antibodies-online antibodies for SDHC (31 products) 

    SDHC Assay Products:

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    antibodies-online kits for SDHC (5 products) 


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

    4 InterPro protein domains:
     IPR018495 Succ_DH_cyt_bsu_CS
     IPR014361 Succ_DH_cytb560
     IPR000701 Succ_DH_Fumarate_Rdtase_TM-su
     IPR014314 Succ_DH_cytb556

    Graphical View of Domain Structure for InterPro Entry Q99643

    ProtoNet protein and cluster: Q99643

    1 Blocks protein domain: IPB000701 Succinate dehydrogenase

    UniProtKB/Swiss-Prot: C560_HUMAN, Q99643
    Similarity: Belongs to the cytochrome b560 family


    Find genes that share domains with SDHC           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C560_HUMAN, Q99643
    Function: Membrane-anchoring 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)

         Genatlas biochemistry entry for SDHC:
    succinate dehydrogenase,cyb L subunit,liver,inner mitochondrial membrane,component 3 of complex II of
    mitochondrial respiratory chain (CII-3),oxidative phosphorylation,(OXPHOS),also catalyzing the seventh step of
    the citric acid cycle

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000104succinate dehydrogenase activity IEA--
    GO:0009055electron carrier activity IEA--
    GO:0016627oxidoreductase activity, acting on the CH-CH group of donors ----
    GO:0020037heme binding ISS--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with SDHC           About GenesLikeMe


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sdhc):
     mortality/aging  vision/eye 

    Find genes that share phenotypes with SDHC           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for SDHC

    miRNA
    Products:
        
    miRTarBase miRNAs that target SDHC:
    hsa-mir-877-3p (MIRT036997), hsa-mir-615-3p (MIRT040069), hsa-mir-320a (MIRT044536), hsa-mir-7-5p (MIRT025841)

    Block miRNA regulation of human, mouse, rat SDHC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SDHC (see all 40):
    hsa-miR-642a hsa-miR-3921 hsa-miR-449a hsa-miR-192* hsa-miR-1290 hsa-miR-365 hsa-miR-1266 hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidSDHC 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for SDHC
    Predesigned siRNA for gene silencing in human, mouse, rat SDHC

    Gene Editing
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    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): SDHC (NM_003001)
    Sino Biological Human cDNA Clone for SDHC
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SDHC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHC

    Cell Line
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    C560_HUMAN, Q99643: Mitochondrion inner membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    plasma membrane3
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion TAS2302193
    GO:0005743mitochondrial inner membrane TAS--
    GO:0005749mitochondrial respiratory chain complex II ISS--
    GO:0016021integral component of membrane TAS9533030
    GO:0045273respiratory chain complex II TAS9533030

    Find genes that share ontologies with SDHC           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for SDHC About    
    See pathways by source

    SuperPathContained pathways About
    1Citric acid cycle (TCA cycle)
    Citric acid cycle (TCA cycle)0.55
    conversion of glucose to acetyl CoA and entry into the TCA cycle0.43
    Citrate cycle (TCA cycle)0.55
    TCA Cycle0.00
    Pyruvate metabolism and Citric Acid (TCA) cycle0.49
    TCA cycle0.00
    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
    Oxidative phosphorylation0.64
    Respiratory electron transport0.81
    Parkinson's disease0.57
    Electron Transport Chain0.75
    Huntington's disease0.45
    The citric acid (TCA) cycle and respiratory electron transport0.71
    Non-alcoholic fatty liver disease (NAFLD)0.41
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Alzheimer's disease
    Alzheimer's disease0.44
    5Carbon metabolism
    Carbon metabolism0.38


    Find genes that share SuperPaths with SDHC           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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


    2 Reactome Pathways for SDHC
        Respiratory electron transport
    Citric acid cycle (TCA cycle)


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

    UniProtKB/Swiss-Prot: C560_HUMAN, Q99643
    Pathway: Carbohydrate metabolism; tricarboxylic acid cycle

        Pathway & Disease-focused RT2 Profiler PCR Arrays including SDHC: 

              Mitochondrial Energy Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for SDHC

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

    Selected Interacting proteins for SDHC (Q996432, 3 ENSP000003569534) via UniProtKB, MINT, STRING, and/or I2D (see all 39)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    XRCC6P129562, 3, ENSP000003522574MINT-8270022 I2D: score=2 STRING: ENSP00000352257
    ARHGDIAP525652, 3, ENSP000002693214MINT-8270011 I2D: score=2 STRING: ENSP00000269321
    SDHBP219123, ENSP000003646494I2D: score=2 STRING: ENSP00000364649
    SDHDO145213, ENSP000003646994I2D: score=2 STRING: ENSP00000364699
    SDHAP310403, ENSP000002649324I2D: score=3 STRING: ENSP00000264932
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006099tricarboxylic acid cycle TAS9533030
    GO:0009060aerobic respiration TAS9533030
    GO:0022904respiratory electron transport chain TAS--
    GO:0044237cellular metabolic process TAS--
    GO:0044281small molecule metabolic process TAS--

    Find genes that share ontologies with SDHC           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for SDHC (C560)

    9 HMDB Compounds for SDHC    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--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    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--
    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 SDHC    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--16288654 17636259 16232921 15986240 16405730
    2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol-- --target--10592235
    UBIQUINONE-1-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for SDHC gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    succinate 88.6 53 11404820 (1), 12782822 (1), 15905695 (1), 16001332 (1) (see all 50)
    fumarate 61.1 3 19573790 (1), 16327764 (1), 18728283 (1)
    ubiquinone 52.1 1 15989954 (1)
    iron-sulfur 49.3 3 11692162 (1), 15989954 (1), 16288654 (1)
    polyethylenimine 49 10 18260146 (2), 15820411 (1), 14499197 (1)
    oxygen 10.8 3 12925748 (1), 17487275 (1), 17376234 (1)
    chitosan 3.65 5 11432586 (3)
    superoxide 3.24 2 16885361 (1), 17250422 (1)
    cholesterol 0 1 10864036 (1)
    steroid 0 1 16116793 (1)



    Find genes that share compounds with SDHC           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for SDHC gene (5 alternative transcripts): 
    NM_001035511.1  NM_001035512.1  NM_001035513.1  NM_001278172.1  NM_003001.3  

    Unigene Cluster for SDHC:

    Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
    Hs.444472  [show with all ESTs]
    Unigene Representative Sequence: NM_003001
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000367975(uc001gag.3 uc001gah.3 uc001gai.3 uc001gaj.3 uc001gak.3)
    ENST00000515731 ENST00000342751 ENST00000432287 ENST00000392169 ENST00000513009
    ENST00000504963 ENST00000470743 ENST00000513700
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate SDHC (see all 40):
    hsa-miR-642a hsa-miR-3921 hsa-miR-449a hsa-miR-192* hsa-miR-1290 hsa-miR-365 hsa-miR-1266 hsa-miR-34c-5p
    SwitchGear 3'UTR luciferase reporter plasmidSDHC 3' UTR sequence
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    Predesigned siRNA for gene silencing in human, mouse, rat SDHC
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    GenScript: all cDNA clones in your preferred vector (see all 4): SDHC (NM_003001)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SDHC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHC
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SDHC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SDHC
      QuantiTect SYBR Green Assays in human, mouse, rat SDHC
      QuantiFast Probe-based Assays in human, mouse, rat SDHC

    Additional mRNA sequence: 

    AB201252.1 AB211234.1 AB211235.1 AB212048.1 AK131051.1 AK293687.1 AK294305.1 BC012735.2 
    BC020808.1 BC033626.1 BC066329.1 CR457102.1 D49737.1 U57877.1 

    19 DOTS entries:

    DT.451616  DT.100684063  DT.91874090  DT.100819962  DT.95343082  DT.100819963  DT.100819971  DT.121417224 
    DT.100819957  DT.91980783  DT.40106418  DT.92443541  DT.92443542  DT.100819972  DT.100819958  DT.92443537 
    DT.92443539  DT.100799910  DT.95094401 

    Selected AceView cDNA sequences (see all 402):

    BM927959 R86202 CB068501 BM854322 D11584 CR614683 AI684355 CR602016 
    CB149370 AI922761 AA687908 AI346556 AL545686 AL540947 CR594069 AL530759 
    BM907849 BU162088 AA766140 D49737 AA721062 CR597554 AA857723 BM750437 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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


    SDHC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Brain (Nervous System)
             Medulla Oblongata
    SDHC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SDHC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.444472
        Pathway & Disease-focused RT2 Profiler PCR Arrays including SDHC: 
              Mitochondrial Energy Metabolism in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for SDHC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SDHC
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHC

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SDHC gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sdhc1 , 5 succinate dehydrogenase complex, subunit C, integral more1, 5 83.63(n)1
    79.88(a)1
      1 (78.99 cM)5
    660521  NM_025321.31  NP_079597.21 
     1711271655 
    chicken
    (Gallus gallus)
    Aves SDHC6
    succinate dehydrogenase complex, subunit C, integr...
    74(a)
    1 ↔ 1
    JH376252.1(4289-9884)
    lizard
    (Anolis carolinensis)
    Reptilia SDHC6
    succinate dehydrogenase complex, subunit C, integr...
    70(a)
    1 ↔ 1
    GL344002.1(42287-46452)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia sdhc1 succinate dehydrogenase complex, subunit C, integral more 69.63(n)
    74.56(a)
      496650  NM_001142899.1  NP_001136371.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufa91d042 Transcribed sequence with weak similarity to protein more 69.94(n)    CK400964.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta SdhC1 Succinate dehydrogenase C 50.93(n)
    44.8(a)
      41340  NM_141790.3  NP_650047.3 


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

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

    Find genes that share paralogs with SDHC           About GenesLikeMe


    4 Pseudogenes.org Pseudogenes for SDHC
    PGOHUM00000238889 PGOHUM00000242179 PGOHUM00000235094 PGOHUM00000240597


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for SDHC (see all 1250)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs571183661,2
    C--161284225(+) CAGTG-/GT/TG 
            
    GGACT
    6 -- int11CSA 2
    rs1117676271,2
    C,F--161290765(+) GCGTGC/TGCCAC 6 -- int11Minor allele frequency- T:0.50CSA 2
    rs616993431,2
    C--161292361(+) TTTTT-/TGAGAC 6 -- int10--------
    rs802451011,2
    C--161292546(+) GAGAT-/GGGGTT 6 -- int10--------
    rs360478601,2
    C--161302427(+) TTTTTT/-GAGAT 6 -- int11Minor allele frequency- -:0.50NA 2
    rs2021531531,2
    C--161306243(+) AAAAA-/AGTTTT 6 -- int10--------
    rs350469311,2
    C,F--161314113(+) CTGGAA/GTGGTG 6 -- int14Minor allele frequency- G:0.18NA 126
    rs577282041,2
    C--161316535(+) CCAAC-/AAAAAATA 6 -- cds1 int10--------
    rs681321021,2
    C--161318490(-) CCACC-/CACAAC 6 -- int12Minor allele frequency- C:0.00NA CSA 4
    rs1127448701,2
    C,F--161320033(+) GATGAG/AGTTTC 6 -- int12Minor allele frequency- A:0.15CSA WA 120

    HapMap Linkage Disequilibrium report for SDHC (161284047 - 161334541 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for SDHC: --
    Human Gene Mutation Database (HGMD): SDHC
    Locus Specific Mutation Databases (LSDB): SDHC

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing SDHC
    DNA2.0 Custom Variant and Variant Library Synthesis for SDHC

    (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.)
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    OMIM gene information: 602413   
    OMIM disorders: 605373  606864  606764  
    UniProtKB/Swiss-Prot: C560_HUMAN, Q99643
  • Paragangliomas 3 (PGL3) [MIM:605373]: 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

  • 18 diseases for SDHC:    
    About MalaCards
    sdhc-related paraganglioma and gastric stromal sarcoma    paragangliomas 3    gastrointestinal stromal tumor    carotid body tumor
    paragangliomas 5    paraganglioma and gastric stromal sarcoma    carney triad    cowden syndrome 1
    paraganglioma    chondroma    mitochondrial complex ii deficiency    familial medullary thyroid carcinoma
    von hippel-lindau disease    hereditary paraganglioma-pheochromocytoma syndromes    phaeochromocytoma    multiple endocrine neoplasia
    familial renal cell carcinoma    pheochromocytoma

    5 diseases from the University of Copenhagen DISEASES database for SDHC:
    Paraganglioma     Hemangioma     Phaeochromocytoma     Neurofibromatosis
    Gastrointestinal stromal tumor

    Find genes that share disorders with SDHC           About GenesLikeMe

    Selected Novoseek inferred disease relationships for SDHC gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraganglioma 95.7 101 17102086 (4), 16405730 (4), 19546167 (3), 20071235 (3) (see all 71)
    pheochromocytoma 88.1 52 16249420 (4), 16405730 (3), 19576851 (3), 17102086 (2) (see all 33)
    von hippel-lindau disease 80.7 5 16001332 (1), 19522823 (1), 18045948 (1), 19958924 (1) (see all 5)
    multiple endocrine neoplasia 79.4 3 15531530 (1), 19522823 (1), 19576851 (1)
    carotid body tumor 77.7 3 16249420 (1), 12381538 (1)
    carney triad 70.9 1 19522821 (1)
    neurofibromatosis type 1 68.3 6 16001332 (1), 19522823 (1), 19899721 (1), 18045948 (1) (see all 6)
    chondroma 50.2 1 19522821 (1)
    multiple endocrine neoplasia type 1 48.1 2 19522821 (1), 18045948 (1)
    tumors 45.3 36 12925748 (2), 17967865 (2), 19343621 (2), 12384970 (1) (see all 30)

    GeneTests: SDHC
    GeneReviews: SDHC
    Genetic Association Database (GAD): SDHC
    Human Genome Epidemiology (HuGE) Navigator: SDHC (23 documents)

    Export disorders for SDHC 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)
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    PubMed articles for SDHC gene, integrated from 10 sources (see all 208):
    (articles sorted by number of sources associating them with SDHC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23. (PubMed id 9533030)1, 2, 3 Hirawake H.... Kita K. (Cytogenet. Cell Genet. 1997)
    2. 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. (BMC Med. Genet. 2006)
    3. No association of an SDHC gene polymorphism with gastric cancer. (PubMed id 17250422)1, 4, 9 Goto Y....Hamajima N. (Asian Pac. J. Cancer Prev. 2006)
    4. Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. (PubMed id 11897817)1, 4, 9 Baysal B.E.... Rubinstein W.S. (J. Med. Genet. 2002)
    5. Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC. (PubMed id 12658451)1, 3, 9 Niemann S....Lohse P. (Hum. Genet. 2003)
    6. Malignant head and neck paragangliomas in SDHB mutation carriers. (PubMed id 17599579)1, 4, 9 Boedeker C.C....Ridder G.J. (Otolaryngol Head Neck Surg 2007)
    7. Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas. (PubMed id 19915015)1, 4, 9 Gaal J....Dinjens W.N. (J. Clin. Endocrinol. Metab. 2010)
    8. A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia? (PubMed id 19768395)1, 4, 9 Richalet J.P....Elghozi J.L. (Clin. Auton. Res. 2009)
    9. Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation? (PubMed id 19029228)1, 4, 9 Pigny P....Porchet N. (Eur. J. Endocrinol. 2009)
    10. Genetics of pheochromocytoma and paraganglioma in Spanish patients. (PubMed id 19258401)1, 4, 9 CascA^n A....Robledo M. (J. Clin. Endocrinol. Metab. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 6391 HGNC: 10682 AceView: SDHC Ensembl:ENSG00000143252 euGenes: HUgn6391
    ECgene: SDHC Kegg: 6391 H-InvDB: SDHC

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SDHC Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SDHC Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SDHC[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/SDHC_%28gene%29
    TCA Cycle Gene Mutation Databasehttp://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHC

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

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



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