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

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)
 Explore 41 diseases affiliated with
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Aliases
for SDHC gene

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

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


Summaries
for SDHC gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for SDHC:
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. Several related pseudogenes are located in
different genomic regions. Mutations in this gene have been associated with paragangliomas. Alternatively spliced
transcript variants encoding different isoforms have been described. (provided by RefSeq, Jul 2008)

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)


Genomic Views
for SDHC gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SDHC gene promoter:
         CREB   deltaCREB   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 1q21

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

Proteins
for SDHC gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q99643

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001030588.1  NP_001030589.1  NP_001030590.1  NP_002992.1  

    ENSEMBL proteins: 
     ENSP00000356953   ENSP00000356952   ENSP00000390558   ENSP00000376009   ENSP00000423260  
     ENSP00000423929  
    Reactome Protein details: Q99643
    Human Recombinant Protein Products: 
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    Uscn Proteins for SDHC

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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 to membrane TAS9533030
    GO:0045273respiratory chain complex II TAS9533030


    SDHC for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for SDHC gene

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

    4 InterPro domains/families:
     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 family: IPB000701 Succinate dehydrogenase

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


    Function
    for SDHC gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
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    8/40 QIAGEN miScript miRNA 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 plasmid: SDHC 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000104succinate dehydrogenase activity IEA--
    GO:0009055electron carrier activity IEA--
    GO:0020037heme binding ISS--
    GO:0046872metal ion binding IEA--


    SDHC for ontologies           About GeneDecksing


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

    SDHC for phenotypes           About GeneDecksing


    Pathways & Interactions
    for SDHC gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

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

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


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

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

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


    SDHC for pathways           About GeneDecksing

    Interactions:

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

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

    5/28 Interacting proteins for SDHC (Q996432, 3 ENSP000003569534) via UniProtKB, MINT, STRING, and/or I2D (see all 28)

    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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006099tricarboxylic acid cycle TAS--
    GO:0009060aerobic respiration TAS9533030
    GO:0022904respiratory electron transport chain TAS--
    GO:0044281small molecule metabolic process TAS--
    GO:0055114oxidation-reduction process TAS9533030


    SDHC for ontologies           About GeneDecksing



    Drugs & Compounds
    for SDHC gene

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

    SDHC for compounds           About GeneDecksing

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

    Browse Tocris compounds for SDHC

    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

    10/12 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about SDHC / C560 

    Transcripts
    for SDHC gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for SDHC gene (4 alternative transcripts): 
    NM_001035511.1  NM_001035512.1  NM_001035513.1  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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    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 plasmid: SDHC 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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 

    24/402 AceView cDNA sequences (see all 402):

    AI096989 BG830352 BX098366 AA357724 BQ437130 H97054 CK822167 BF881822 
    AI304575 AA421186 BM927959 BM014925 BG910876 CR608606 CR621523 AI129668 
    CB266231 AI127729 AI346556 AW316770 BI858160 CD723920 D11584 AA983712 

    GeneLoc Exon Structure


    Expression
    for SDHC gene

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

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

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    SDHC expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Cranial Neural Crest CellsNeural Crest
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

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

    SOURCE GeneReport for Unigene cluster: Hs.444472
        SABiosciences Expression via Pathway-Focused PCR Arrays including SDHC: 
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              Molecular Toxicology PathwayFinder 384HT in human mouse rat
              Glucose Metabolism in human mouse rat

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    In Situ
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    Orthologs
    for SDHC gene

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

    Orthologs for SDHC gene from 6/20 species (see all 20)    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 LOC1008596411 succinate dehydrogenase cytochrome b560 subunit, mitochondrial-like 67.89(n)
    69.12(a)    		   100859641  XM_003643816.1  XP_003643864.1 
    lizard
    (Anolis carolinensis)    		 Reptilia SDHC6
    		 --
    		 69(a)
    		 1 ↔ 1
    		 GL344002.1(44619-46446)
    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 48.57(n)
    42.14(a)    		   41340  NM_141790.2  NP_650047.3 
    worm
    (Caenorhabditis elegans)    		 Secernentea mev-16
    		 Succinate dehydrogenase cytochrome b560 subunit, m...
    		 25(a)
    		 1 ↔ 1
    		 III(10334173-10335087)


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

    Paralogs
    for SDHC gene

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

    SDHC for paralogs           About GeneDecksing


    4 Pseudogenes.org Pseudogenes for SDHC
    PGOHUM00000238889 PGOHUM00000242179 PGOHUM00000235094 PGOHUM00000240597


    Genomic Variants
    for SDHC gene

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

    10/1066 NCBI SNPs in SDHC are shown (see all 1066)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1458925531,2
    		--161282225(+) CAATTC/GAAAGT 4 -- us2k10--------
    rs41318251,2
    		C,F,A,,--161282246(-) TGGGGT/GTTTTT 4 -- us2k14Minor allele frequency- G:0.43NA WA CSA 7
    rs1411994221,2
    		--161282246(+) AAAAA-/CCCCCA 4 -- us2k10--------
    rs1414803941,2
    		--161282258(+) AACTC-/TCCCCT 4 -- us2k10--------
    rs41318261,2
    		C,F,A,H,--161282384(-) TCAATA/GAAGAC 4 -- us2k1 tfbs3109Minor allele frequency- G:0.20EA NS NA PA EU CA WA 7082
    rs1140190321,2
    		F,--161282464(+) TTCACG/AGACTG 4 -- us2k11Minor allele frequency- A:0.06WA 118
    rs41318271,2
    		F,--161282538(-) AGCTAC/TCACTC 4 -- us2k11Minor allele frequency- T:0.03NA 120
    rs1385010681,2
    		--161282552(+) ACCTAC/TAATCC 4 -- us2k10--------
    rs112655881,2
    		C,F,--161282662(+) AAAATC/TAGCCG 4 -- us2k12Minor allele frequency- T:0.50WA 4
    rs1927129361,2
    		--161282688(+) GCCTGC/TAATCC 4 -- us2k10--------

    HapMap Linkage Disequilibrium report for SDHC (161284047 - 161334541 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for SDHC: --
    Human Gene Mutation Database (HGMD): SDHC

    Locus Specific Mutation Databases (LSDB): SDHC

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

    Disorders / Diseases
    for SDHC gene

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

    OMIM gene information: 602413   
    OMIM disorders: 605373  606864  
    UniProtKB/Swiss-Prot: C560_HUMAN, Q99643
  • Defects in SDHC are the cause of paragangliomas type 3 (PGL3) [MIM:605373]. 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
  • Defects in SDHC are a cause of paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]; also known as
    • Carney-Stratakis syndrome. 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

    20/41 diseases for SDHC (see all 41):    About MalaCards
    paraganglioma    von hippel-lindau disease    paragangliomas, familial nonchromaffin, 3    carney triad
    multiple endocrine neoplasia    cranial nerve palsy    hereditary paraganglioma-pheochromocytoma syndromes    carotid body tumor
    mitochondrial complex ii deficiency    neural crest tumor    paraganglioma and gastric stromal sarcoma    familial medullary thyroid carcinoma
    chondroma    gastrointestinal stromal tumor    laryngeal squamous cell carcinoma    familial renal cell carcinoma
    thyroid medullary carcinoma    renal cell carcinoma    squamous cell carcinoma    pheochromocytoma

    4 diseases from the University of Copenhagen DISEASES database for SDHC:
    Paraganglioma     Hemangioma     Phaeochromocytoma     Neurofibromatosis

    10/22 Novoseek 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
    Hereditary Paraganglioma-Pheochromocytoma Syndromes

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

    Export disorders for SDHC gene to outside databases

    Publications
    for SDHC gene

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

    PubMed articles for SDHC gene, integrated from 9 sources (see all 203):
    (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. (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. (2006)
    3. 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. (2002)
    4. 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. (2003)
    5. No mutations but an increased frequency of SDHx polymorphisms in patients with sporadic and familial medullary thyroid carcinoma. (PubMed id 16322339)1, 4, 9 Montani M....Perren A. (2005)
    6. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. (PubMed id 11062460)1, 2, 9 Niemann S. and Mueller U. (2000)
    7. Familial gastrointestinal stromal tumors and germ-line mutations. (PubMed id 17804857)1, 2 McWhinney S.R....Stratakis C.A. (2007)
    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. Characterization of the human SDHC gene encoding one of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria. (PubMed id 9714607)1, 2 Elbehti-Green A....Scheffler I.E. (1998)
    10. A human succinate-ubiquinone oxidoreductase CII-3 subunit gene ending in a polymorphic dinucleotide repeat is located within the sulfonylurea receptor (SUR) gene. (PubMed id 9851882)1, 2 Wohllk N.... Cote G.J. (1998)

    External Searches for SDHC gene

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

    Genome Databases showing SDHC gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6391 HGNC: 10682 AceView: SDHC Ensembl:ENSG00000143252 euGenes: HUgn6391
    ECgene: SDHC Kegg: 6391 H-InvDB: SDHC

    Other Databases showing SDHC gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing SDHC gene

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

    Intellectual Property
    for SDHC gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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