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SDHD Gene

protein-coding   GIFtS: 63
GCID: GC11P111991

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


(Previous symbols: PGL, PGL1)
  See 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 D, Integral Membrane
Protein1 2
     SDH42 3
PGL11 2 5     CWS32 5
PGL1 2     CBT12
Succinate-Ubiquinone Oxidoreductase Cytochrome B Small Subunit2 3     cybS2
Succinate-Ubiquinone Reductase Membrane Anchor Subunit2 3     Succinate Dehydrogenase [Ubiquinone] Cytochrome B Small Subunit,
Mitochondrial2
CII-42 3     CybS3
QPs32 3     Succinate Dehydrogenase Complex Subunit D3

External Ids:    HGNC: 106831   Entrez Gene: 63922   Ensembl: ENSG000002043707   OMIM: 6026905   UniProtKB: O145213   

Export aliases for SDHD gene to outside databases

Previous GC identifers: GC11P114310 GC11P113469 GC11P111495 GC11P111462 GC11P107881


(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 SDHD Gene:
This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of
succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side
of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors,
including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal
allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on
chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. (provided by
RefSeq, Feb 2013)

GeneCards Summary for SDHD Gene:
SDHD (succinate dehydrogenase complex, subunit D, integral membrane protein) is a protein-coding gene. Diseases associated with SDHD include sdhd-related hereditary paraganglioma-pheochromocytoma syndrome, and paraganglioma and gastric stromal sarcoma. GO annotations related to this gene include electron carrier activity and ubiquinone binding. An important paralog of this gene is ENSG00000255292.

UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521
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) (By similarity)

Gene Wiki entry for SDHD 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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Regulatory elements:
   Regulatory transcription factor binding sites in the SDHD gene promoter:
         FOXD3   POU3F2 (N-Oct-5b)   POU3F2 (N-Oct-5a)   POU3F2   Tal-1beta   AREB6   RORalpha1   Nkx6-1   Pax-4a   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSDHD promoter sequence
   Search Chromatin IP Primers for SDHD

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


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

Entrez Gene cytogenetic band: 11q23   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q23

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P111991:  view genomic region     (about GC identifiers)

Start:
111,957,497 bp from pter      End:
111,990,353 bp from pter
Size:
32,857 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521 (See protein sequence)
Recommended Name: Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial precursor  
Size: 159 amino acids; 17043 Da
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: A6ND90 B3KQQ8 Q53XW5 Q6IRW2

Explore the universe of human proteins at neXtProt for SDHD: NX_O14521

Explore proteomics data for SDHD at MOPED


See SDHD Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (4 alternative transcripts): 
NP_001263432.1  NP_001263433.1  NP_001263435.1  NP_002993.1  

ENSEMBL proteins: 
 ENSP00000364699   ENSP00000435475   ENSP00000436217   ENSP00000432465   ENSP00000432005  
 ENSP00000436669   ENSP00000432946   ENSP00000433202  
Reactome Protein details: O14521

SDHD Human Recombinant Protein Products:

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OriGene Protein Over-expression Lysate for SDHD
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OriGene Custom Protein Services for SDHD
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Novus Biologicals SDHD Proteins
Novus Biologicals SDHD Lysate
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Browse Sino Biological Cell Lysates
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Cloud-Clone Corp. Proteins for SDHD

SDHD Antibody Products:

EMD Millipore Mono- and Polyclonal Antibodies for the study of SDHD
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OriGene Custom Antibody Services for SDHD
Novus Biologicals SDHD Antibodies
Abcam antibodies for SDHD
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ThermoFisher Antibodies for SDHD
LSBio Antibodies in human, mouse, rat for SDHD

SDHD Assay Products:

Browse Kits and Assays available from EMD Millipore
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GenScript Custom Assay Services for SDHD
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for SDHD
Cloud-Clone Corp. CLIAs for SDHD


(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

1 InterPro protein domain:
 IPR007992 CybS

Graphical View of Domain Structure for InterPro Entry O14521

ProtoNet protein and cluster: O14521

1 Blocks protein domain: IPB007992 CybS

UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521
Similarity: Belongs to the CybS family


SDHD 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,
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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: DHSD_HUMAN, O14521
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) (By similarity)

     Genatlas biochemistry entry for SDHD:
succinate dehydrogenase,cyb S subunit,liver,inner mitochondrial membrane,component 4 of complex II of
mitochondrial respiratory chain (CII-4),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 IDA9533030
GO:0009055electron carrier activity TAS9533030
GO:0020037heme binding ISS--
GO:0046872metal ion binding IEA--
GO:0048039ubiquinone binding ISS--
     
SDHD for ontologies           About GeneDecksing


Phenotypes:
     1 GenomeRNAi human phenotype for SDHD:
 Increased mitotic index 

     11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sdhd):
 behavior/neurological  cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland 
 growth/size/body  homeostasis/metabolism  mortality/aging  nervous system  normal 
 tumorigenesis 

SDHD for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Sdhdtm1Jlob for SDHD

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SDHD
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SDHD

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SDHD
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SDHD

miRNA
Products:
    
Block miRNA regulation of human, mouse, rat SDHD using miScript Target Protectors
3 qRT-PCR Assays for microRNAs that regulate SDHD:
hsa-miR-544 hsa-miR-204 hsa-miR-211
SwitchGear 3'UTR luciferase reporter plasmidSDHD 3' UTR sequence
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for SDHD
Predesigned siRNA for gene silencing in human, mouse, rat SDHD

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

Clone
Products:
     
OriGene clones in human, mouse for SDHD (see all 6)
OriGene ORF clones in mouse, rat for SDHD
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: SDHD (NM_003002)
Sino Biological Human cDNA Clone for SDHD
DNA2.0 Custom Codon Optimized Gene Synthesis Service for SDHD
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHD

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for SDHD
Browse ESI BIO Cell Lines and PureStem Progenitors for SDHD 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHD


(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
DHSD_HUMAN, O14521: Mitochondrion inner membrane; Multi-pass membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
mitochondrion5
extracellular1
lysosome1
nucleus1
plasma membrane1

Gene Ontology (GO): 5 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005739mitochondrion TAS2302193
GO:0005740mitochondrial envelope TAS9533030
GO:0005743mitochondrial inner membrane TAS--
GO:0005749mitochondrial respiratory chain complex II ISS--
GO:0016021integral component of membrane IEA--

SDHD for ontologies           About GeneDecksing


(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 SDHD 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

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


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


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


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

UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521
Pathway: Carbohydrate metabolism; tricarboxylic acid cycle


SDHD for pathways           About GeneDecksing

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

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

Interactions:

    GeneGlobe Interaction Network for SDHD

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

Selected Interacting proteins for SDHD (O145213 ENSP000003646994) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
InteractantInteraction Details
GeneCardExternal ID(s)
SDHCQ996433, ENSP000003569534I2D: score=2 STRING: ENSP00000356953
SDHAP310403, ENSP000002649324I2D: score=1 STRING: ENSP00000264932
MT-CYBENSP000003545544STRING: ENSP00000354554
SUCLA2ENSP000003679234STRING: ENSP00000367923
SUCLG1ENSP000003774464STRING: ENSP00000377446
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Gene Ontology (GO): 4 biological process terms:    About this table

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

SDHD for ontologies           About GeneDecksing



(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 SDHD (DHSD)

9 HMDB Compounds for SDHD    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--

4 DrugBank Compounds for SDHD    About this table
CompoundSynonyms CAS #TypeActionsPubMed Ids
Succinic acid1,2-Ethanedicarboxylic acid (see all 8)110-15-6target--16288654 16374125 15989954 17520677 16405730
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol-- --target--10592235
Hexachlorophene-- 70-30-4targetinhibitor10487417
UBIQUINONE-1-- --target--10592235

7 Novoseek inferred chemical compound relationships for SDHD gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
succinate 92.2 84 16080530 (2), 11404820 (1), 12782822 (1), 12811540 (1) (see all 74)
mibg 67.4 1 17898811 (1)
fumarate 60.2 3 19573790 (1), 16327764 (1), 18728283 (1)
catecholamine 51.5 1 17227803 (1)
ubiquinone 51 1 15989954 (1)
iron-sulfur 48.2 3 11692162 (1), 15989954 (1), 16288654 (1)
oxygen 8.79 5 12811540 (2), 19768395 (1), 17487275 (1), 17376234 (1)



SDHD for compounds           About GeneDecksing



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for SDHD gene (4 alternative transcripts): 
NM_001276503.1  NM_001276504.1  NM_001276506.1  NM_003002.3  

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000375549(uc001pmz.3) ENST00000528182 ENST00000528048 ENST00000528021
ENST00000526592 ENST00000525291 ENST00000530923 ENST00000534010
miRNA
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Block miRNA regulation of human, mouse, rat SDHD using miScript Target Protectors
3 qRT-PCR Assays for microRNAs that regulate SDHD:
hsa-miR-544 hsa-miR-204 hsa-miR-211
SwitchGear 3'UTR luciferase reporter plasmidSDHD 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for SDHD
Predesigned siRNA for gene silencing in human, mouse, rat SDHD
Clone
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OriGene ORF clones in mouse, rat for SDHD
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: SDHD (NM_003002)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for SDHD
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHD
Primer
Products:
    
OriGene qPCR primer pairs and template standards for SDHD
OriGene qSTAR qPCR primer pairs in human, mouse for SDHD
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SDHD
  QuantiTect SYBR Green Assays in human, mouse, rat SDHD
  Search QuantiFast Probe-based Assays in human, mouse, rat SDHD

Selected AceView cDNA sequences (see all 1371):

BM758814 BQ938179 T24605 AB096252 BG501431 BE252963 AX747181 AA303046 
BU660434 AA297523 CA394937 BI868737 BM469844 CD105572 BM818783 BG106140 
BC015188 BG741173 CB054053 CB216076 BQ229571 BU732625 CB160539 NM_031938 

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


SDHD expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 5) fully expand
 
 Adipose (Muscoskeletal System)    fully expand to see all 2 entries
         Thoracic Perivascular Adipose
 
 Thymus (Hematopoietic System)
         Thymus
 
 Kidney (Urinary System)
         Metanephros
 
 Neural Tube (Nervous System)
         Metencephalon
 
 Brain (Nervous System)
         Medulla Oblongata
SDHD Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

SDHD Protein Expression
    Pathway & Disease-focused RT2 Profiler PCR Arrays including SDHD: 
          Mitochondrial Energy Metabolism in human mouse rat
          Molecular Toxicology PathwayFinder 384HT in human mouse rat
          Glucose Metabolism in human mouse rat

Primer
Products:
OriGene qPCR primer pairs and template standards for SDHD
OriGene qSTAR qPCR primer pairs in human, mouse for SDHD
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SDHD
QuantiTect SYBR Green Assays in human, mouse, rat SDHD
Search QuantiFast Probe-based Assays in human, mouse, rat SDHD
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHD

(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 SDHD gene from Selected species (see all 13)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Sdhd1 , 5 succinate dehydrogenase complex, subunit D, integral more1, 5 83.02(n)1
82.39(a)1
  9 (27.75 cM)5
669251  NM_025848.31  NP_080124.11 
 505963405 
chicken
(Gallus gallus)
Aves SDHD1 succinate dehydrogenase complex, subunit D, integral more 63.75(n)
66.42(a)
  419793  NM_001006321.1  NP_001006321.1 
lizard
(Anolis carolinensis)
Reptilia --
Uncharacterized protein
83(a)
1 → many
GL343973.1(62978-65730)
tropical clawed frog
(Xenopus tropicalis)
Amphibia sdhd1 succinate dehydrogenase complex, subunit D, integral more 64.91(n)
69.08(a)
  394986  NM_204026.1  NP_989357.1 
zebrafish
(Danio rerio)
Actinopterygii CB361274.12   -- 77.09(n)    CB361274.1 
fruit fly
(Drosophila melanogaster)
Insecta CG102196
--
27(a)
1 → many
3R(19585207-19586318)
worm
(Caenorhabditis elegans)
Secernentea sdhd-16
Protein SDHD-1 (sdhd-1) mRNA, complete cds
32(a)
1 → many
II(11049144-11051753) WBGene00009353


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for SDHD gene
ENSG000002552922  

SDHD for paralogs           About GeneDecksing


6 Pseudogenes.org Pseudogenes for SDHD (see first 5)
PGOHUM00000234863 PGOHUM00000240819 PGOHUM00000241031 PGOHUM00000258152 PGOHUM00000258163
PGOHUM00000233578


(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 SDHD (see all 353)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0100394
Pheochromocytoma (PCC)4--see VAR_0100392 D Y mis40--------
VAR_0100384
Pheochromocytoma (PCC)4--see VAR_0100382 P L mis40--------
VAR_0543854
Paragangliomas 1 (PGL1)4--see VAR_0543852 G V mis40--------
VAR_0178734
Paragangliomas 1 (PGL1)4--see VAR_0178732 L P mis40--------
VAR_0100404
Paragangliomas 1 (PGL1)4--see VAR_0100402 H L mis40--------
VAR_0178724
Paragangliomas 1 (PGL1)4--see VAR_0178722 Y C mis40--------
rs803388421,2
Cpathogenic1111821102(+) GAGATC/GGCGGT 11 I M mis10--------
rs1048943101,2
Cpathogenic1111821113(+) TCTCTA/GGAGGC 11 * W stg10--------
rs1048943091,2
Cpathogenic1111821132(+) GTTTGA/CGGTGC 9 * C stg10--------
rs346775911,2,,4
C,Fpathogenic1111821133(+) TTTGCG/AGTGCC 9 /S /G mis16Minor allele frequency- A:0.01EU NA 6171

HapMap Linkage Disequilibrium report for SDHD (111957497 - 111990353 bp)

Structural Variations
     Database of Genomic Variants (DGV) 1 variation for SDHD:    About this table    
Variant IDTypeSubtypePubMed ID
esv2745077CNV Deletion23290073

Human Gene Mutation Database (HGMD): SDHD
Locus Specific Mutation Databases (LSDB): SDHD

Site Specific Mutation Identification with PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602690   
OMIM disorders: 168000  171300  114900  606864  615106  
UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521
  • Paragangliomas 1 (PGL1) [MIM:168000]: A neural crest tumor usually derived from the chromoreceptor tissue
    of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly
    benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid
    body is the largest of all paraganglia and is also the most common site of the tumors. Note=The disease is caused
    by mutations affecting the gene represented in this entry
  • 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
  • Intestinal carcinoid tumor (ICT) [MIM:114900]: A yellow, well-differentiated, circumscribed tumor that
    arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the
    gastrointestinal tract. Note=Disease susceptibility is associated with variations 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 3 (CWS3) [MIM:615106]: 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

  • Selected diseases for SDHD (see all 63):    
    About MalaCards
    sdhd-related hereditary paraganglioma-pheochromocytoma syndrome    paraganglioma and gastric stromal sarcoma    carotid body tumor    paragangliomas 1, with or without deafness
    paragangliomas 1    hereditary paraganglioma-pheochromocytoma syndromes    sdhd-related paraganglioma and gastric stromal sarcoma    cowden syndrome 3
    merkel cell carcinoma, somatic    cerebellopontine angle tumor    carcinoid tumors, intestinal    chondroma
    carney triad    phaeochromocytoma    von hippel-lindau disease    neural crest tumor
    sporadic pheochromocytoma    paraganglioma    familial medullary thyroid carcinoma    pheochromocytoma

    5 diseases from the University of Copenhagen DISEASES database for SDHD:
    Paraganglioma     Leprosy     Phaeochromocytoma     Hemangioma
    Neurofibromatosis

    SDHD for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for SDHD gene (see all 28)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paraganglioma 97.5 214 11526495 (5), 15328326 (5), 15905695 (4), 17102086 (4) (see all 99)
    pheochromocytoma 93.1 173 15774781 (6), 11397905 (5), 17308434 (5), 19215943 (5) (see all 81)
    von hippel-lindau disease 86.1 10 16001332 (1), 12928344 (1), 17119341 (1), 19522823 (1) (see all 10)
    carotid body tumor 85.5 7 17041923 (1), 16249420 (1), 11391796 (1), 15602946 (1) (see all 7)
    multiple endocrine neoplasia 85.1 10 15788647 (1), 15531530 (1), 17102076 (1), 17102083 (1) (see all 10)
    neurofibromatosis type 1 78.6 14 15788647 (1), 16001332 (1), 12928344 (1), 17102076 (1) (see all 13)
    carney triad 70 1 19522821 (1)
    germ-line mutation 68.3 13 17576205 (5), 11156372 (2), 19399650 (1), 10657297 (1) (see all 7)
    glomus tumor 61 2 12000816 (1), 17102085 (1)
    multiple tumors 59.7 4 16249420 (1), 16317055 (1), 15774781 (1)

    GeneTests: SDHD
    GeneReviews: SDHD
    Genetic Association Database (GAD): SDHD
    Human Genome Epidemiology (HuGE) Navigator: SDHD (34 documents)

    Export disorders for SDHD 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 SDHD gene, integrated from 10 sources (see all 268):
    (articles sorted by number of sources associating them with SDHD)
        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. (JAMA 2004)
    2. Germ-line mutations in nonsyndromic pheochromocytoma. (PubMed id 12000816)1, 2, 4, 9 Neumann H.P.H.... Eng C. (N. Engl. J. Med. 2002)
    3. Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. (PubMed id 18678321)1, 2, 4 Ni Y.... Eng C. (Am. J. Hum. Genet. 2008)
    4. 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)
    5. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. (PubMed id 11156372)1, 2, 9 Gimm O.... Eng C. (Cancer Res. 2000)
    6. Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. (PubMed id 11391796)1, 2, 9 Badenhop R.F....Schofield P.R. (Genes Chromosomes Cancer 2001)
    7. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (PubMed id 10657297)1, 2, 9 Baysal B.E.... Devlin B. (Science 2000)
    8. Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. (PubMed id 19215943)1, 4, 9 Meyer-Rochow G.Y....Benn D.E. (J. Surg. Res. 2009)
    9. 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)
    10. Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma. (PubMed id 17639058)1, 4, 9 Korpershoek E....de Krijger R.R. (Endocr. Relat. Cancer 2007)

    (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: 6392 HGNC: 10683 AceView: SDHDandTEX12 Ensembl:ENSG00000204370 euGenes: HUgn6392
    ECgene: SDHD Kegg: 6392 H-InvDB: SDHD

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for SDHD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SDHD Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SDHD[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/SDHD
    TCA Cycle Gene Mutation Databasehttp://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHD

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for SDHD gene:
    Search GeneIP for patents involving SDHD

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



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