Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

SDHD Gene

protein-coding   GIFtS: 61
GCID: GC11P111991

succinate dehydrogenase complex, subunit D, integral membrane...


(Previous symbols: PGL, PGL1)
 Explore 55 diseases affiliated with
SDHD via our new
 Human Malady Compendium 
Biological research products
for SDHD
    

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

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SDHD:
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)

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


(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_000011.9  NC_018922.1  NT_033899.8  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SDHD

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, 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: 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
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Secondary accessions: A6ND90 B3KQQ8 Q53XW5 Q6IRW2

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

SDHD Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

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
Human Recombinant Protein Products: 
Browse Purified and Recombinant Proteins at EMD Millipore
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
OriGene Protein Over-expression Lysate: SDHD
OriGene Custom Protein Services for SDHD 
GenScript Custom Purified and Recombinant Proteins Services for SDHD
Novus Biologicals SDHD Proteins
Novus Biologicals SDHD Lysate
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins
Uscn Proteins for SDHD

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:0005740mitochondrial envelope TAS9533030
GO:0005743mitochondrial inner membrane TAS--
GO:0005749mitochondrial respiratory chain complex II ISS--
GO:0016021integral to membrane IEA--


SDHD for ontologies           About GeneDecksing



SDHD Antibody Products: 
EMD Millipore Mono- and Polyclonal Antibodies for the study of SDHD
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
OriGene Custom Antibody Services for SDHD 
GenScript Custom Superior Antibodies Services for SDHD
Novus Biologicals SDHD Antibodies
Search for Antibodies for SDHD at Abcam  
Uscn Antibodies for SDHD
Search ThermoFisher Antibodies for SDHD

Assay Products for SDHD: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Immunoassay Development
Browse OriGene Fluorogenic Cell Assay Kits
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for SDHD
Browse Enzo Life Sciences for kits & assays
Uscn ELISAs and CLIAs for SDHD


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

SDHD for domains           About GeneDecksing

1 InterPro domain/family:
 IPR007992 CybS

Graphical View of Domain Structure for InterPro Entry O14521

ProtoNet protein and cluster: O14521

1 Blocks protein family: IPB007992 CybS

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


(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: 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

miRNA
Products:
    
OriGene 3'-UTR Clone: SDHD
Browse MicroRNA Expression Plasmids
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SDHD
3 QIAGEN miScript miRNA 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:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SDHD (see all 7)
OriGene shRNA RFP: SDHD
OriGene siRNA: SDHD
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SDHD

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

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SDHD (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, 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)
Browse Sino Biological Human cDNA Clones
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
Search LifeMap BioReagents cell lines for SDHD

In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHD

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

GO IDQualified GO termEvidencePubMed IDs
GO:0000104succinate dehydrogenase activity IDA9533030
GO:0005506iron ion binding IEA--
GO:0009055electron carrier activity TAS9533030
GO:0020037heme binding ISS--
GO:0048039ubiquinone binding ISS--


SDHD for ontologies           About GeneDecksing


1 GenomeRNAi human phenotype for SDHD:
 Increased mitotic index 

Animal Models:
     Mouse knock-out Sdhdtm1Jlob for SDHD
     11 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Sdhd):
 behavior/neurological  cardiovascular system  cellular  embryogenesis  endocrine/exocrine gland 
 growth/size  homeostasis/metabolism  mortality/aging  nervous system  normal 
 tumorigenesis 

SDHD for phenotypes           About GeneDecksing


(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 SDHD 
    TCA Cycle
Electron Transport Chain
TCA cycle II (eukaryotic)

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

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


SDHD for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SDHD

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/21 Interacting proteins for SDHD (O145213 ENSP000003646994) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

InteractantInteraction Details
GeneCardExternal ID(s)
SDHCQ996433, ENSP000003569534I2D: score=2 STRING: ENSP00000356953
SDHAP310403, ENSP000002649324I2D: score=1 STRING: ENSP00000264932
CYC1ENSP000003171594STRING: ENSP00000317159
ENSG00000267059ENSP000002629464STRING: ENSP00000262946
FHENSP000003555184STRING: ENSP00000355518
About this table

Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006099tricarboxylic acid cycle TAS--
GO:0006121mitochondrial electron transport, succinate to ubiquinone IEA--
GO:0022904respiratory electron transport chain TAS--
GO:0044281small molecule metabolic process TAS--


SDHD for ontologies           About GeneDecksing



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

SDHD for compounds           About GeneDecksing

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

Browse Tocris compounds for SDHD

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 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)

Search CenterWatch for drugs/clinical trials and news about SDHD / DHSD 

(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 SDHD gene (4 alternative transcripts): 
NM_001276503.1  NM_001276504.1  NM_001276506.1  NM_003002.3  

Unigene Cluster for SDHD:

Succinate dehydrogenase complex, subunit D, integral membrane protein
Hs.744039  [show with all ESTs]
Unigene Representative Sequence: BF240727
8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000375549(uc001pmz.3) ENST00000528182 ENST00000528048 ENST00000528021
ENST00000526592 ENST00000525291 ENST00000530923 ENST00000534010

miRNA
Products:
     
OriGene 3'-UTR Clone: SDHD
Browse OriGene MicroRNA Expression Plasmids
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SDHD
3 QIAGEN miScript miRNA 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:
     
Browse for Gene Knock-down Tools from EMD Millipore
OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SDHD (see all 7)
OriGene shRNA RFP: SDHD
OriGene siRNA: SDHD
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SDHD
Clone
Products:
     
OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SDHD (see first 1)
NM_003002 (human cat#: RC203269)  NM_025848 (mouse cat#: MR221556)  NM_198788 (rat cat#: RR206013)  
OriGene untagged cDNA clones in CMV expression vector in human, 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 genome-wide validated SYBR primer pairs in human, mouse, rat for SDHD
Browse OriGene validated miRNA SYBR primer pairs
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SDHD
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SDHD
  Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SDHD

Additional cDNA sequence: 

AB006202.1 AK075360.1 BC005263.1 BC009574.1 BC012603.1 BC015188.1 BC015992.1 BC022350.1 
BC070307.1 BC071755.1 BC071756.1 BT007238.1 CR456932.1 

24/31 DOTS entries (see all 31):

DT.92472464  DT.92472520  DT.102843291  DT.92472459  DT.100863770  DT.95280165  DT.100863783  DT.120733756 
DT.120733813  DT.92472499  DT.100863779  DT.120733902  DT.121396544  DT.100863778  DT.120733779  DT.121100864 
DT.100039225  DT.100863769  DT.100863776  DT.100863781  DT.120733736  DT.120733740  DT.120733796  DT.120733817 

24/1371 AceView cDNA sequences (see all 1371):

BQ962548 BG024667 BU839269 BG403639 AA315473 BE207116 AL561498 BM758814 
BQ938179 T24605 AB096252 BG501431 BE252963 AX747181 AA303046 BU660434 
BE905245 BQ083930 BM272428 AA306311 CK002387 BM922264 BM827899 CB054080 

GeneLoc Exon Structure


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

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

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

About this image
See SDHD Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SDHD

SOURCE GeneReport for Unigene cluster: Hs.744039
    SABiosciences Expression via Pathway-Focused 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 genome-wide validated SYBR primer pairs in human, mouse, rat for SDHD
Browse OriGene validated miRNA SYBR primer pairs
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SDHD
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SDHD
Search QIAGEN 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)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SDHD gene from 5/19 species (see all 19)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves SDHD1 succinate dehydrogenase complex, subunit D, integral more 63.5(n)
66.42(a)
  419793  NM_001006321.1  NP_001006321.1 
lizard
(Anolis carolinensis)
Reptilia SDHD6
--
83(a)
1 → many
GL343973.1(62978-65730)
zebrafish
(Danio rerio)
Actinopterygii CB361274.12   -- 77.09(n)    CB361274.1 
fruit fly
(Drosophila melanogaster)
Insecta CG102191 CG10219 47.84(n)
37.04(a)
  42808  NM_142924.2  NP_651181.1 
worm
(Caenorhabditis elegans)
Secernentea sdhd-16
Putative succinate dehydrogenase [ubiquinone] cyto...
34(a)
1 → many
II(11049086-11051695)


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)
About This Section
Paralogs for SDHD gene
ENSG000002552922  

SDHD for paralogs           About GeneDecksing


5/6 Pseudogenes.org Pseudogenes for SDHD (see all 6)
PGOHUM00000234863 PGOHUM00000240819 PGOHUM00000241031 PGOHUM00000258152 PGOHUM00000258163


(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

10/295 NCBI SNPs in SDHD are shown (see all 295    About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 11 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs803388471,2
Cpathogenic125484354(+) TGGGCC/TTTGCT 2 P L mis10--------
rs1048943041,2
Cpathogenic125484429(+) TGACTA/GTGTTC 2 Y C mis10--------
rs803388451,2
Cpathogenic125490289(+) CGATGG/TACTAT 2 D Y mis10--------
rs803388441,2
Cpathogenic125490321(+) GCTTCC/TGGCTG 2 P L mis10--------
rs112140771,2
C,F,pathogenic125491307(+) CATACA/GCTTGT 4 H R us2k1 mis1 ese38Minor allele frequency- G:0.01EU NS NA 6335
rs1048943081,2
Cpathogenic125491327(+) GAATGA/GTGTGG 4 * W us2k1 stg10--------
rs1048943031,2
Cpathogenic125491350(+) TTCTTC/TAGGAC 4 Q * stg1 us2k10--------
rs1048943061,2
Cpathogenic125491392(+) TGCTTC/TGAACT 4 R * us2k1 stg10--------
rs346775911,2
C,F,pathogenic125492319(+) TTTGCG/AGTGCC 4 /S /G us2k1 mis16Minor allele frequency- A:0.01EU NA 6171
rs803388421,2
Cpathogenic125492350(+) GAGATC/GGCGGT 4 I M mis1 us2k10--------

HapMap Linkage Disequilibrium report for SDHD (111957497 - 111990353 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for SDHD: --
Human Gene Mutation Database (HGMD): SDHD

Locus Specific Mutation Databases (LSDB): SDHD

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

(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

SDHD for disorders           About GeneDecksing

OMIM gene information: 602690   
OMIM disorders: 168000  171300  114900  606864  612359  
UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521
  • Defects in SDHD are a cause of paragangliomas type 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
  • Defects in SDHD are a cause of susceptibility to 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
  • Defects in SDHD may be a cause of susceptibility to 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
  • Defects in SDHD are a cause of paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]; also called
  • 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
  • Defects in SDHD are a cause of Cowden-like syndrome (CWDLS) [MIM:612359]. Cowden-like syndrome is a cancer
  • predisposition syndrome associated with elevated risk for tumors of the breast, thyroid, kidney and uterus

    20/55 diseases for SDHD (see all 55):    About MalaCards
    paragangliomas, familial nonchromaffin, 1, with or without deafness    paraganglioma    von hippel-lindau disease    carney triad
    multiple endocrine neoplasia    cowden-like syndrome    merkel cell carcinoma, somatic    cranial nerve palsy
    hereditary paraganglioma-pheochromocytoma syndromes    carotid body tumor    mitochondrial complex ii deficiency    carcinoid tumors, intestinal
    cerebellopontine angle tumor    human immunodeficiency virus infectious disease    neural crest tumor    merkel cell carcinoma
    paraganglioma and gastric stromal sarcoma    sensorineural hearing loss    glomus tumor    familial medullary thyroid carcinoma

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

    10/28 Novoseek 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
    Hereditary Paraganglioma-Pheochromocytoma Syndromes

    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)
    About This Section

    PubMed articles for SDHD gene, integrated from 9 sources (see all 263):
    (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. (2004)
    2. Germ-line mutations in nonsyndromic pheochromocytoma. (PubMed id 12000816)1, 2, 4, 9 Neumann H.P.H.... Eng C. (2002)
    3. 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)
    4. 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. (2000)
    5. 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. (2001)
    6. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (PubMed id 10657297)1, 2, 9 Baysal B.E.... Devlin B. (2000)
    7. 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)
    8. Germline SDHD mutation in paraganglioma of the spinal cord. (PubMed id 11526495)1, 2, 9 Masuoka J.... Ohgaki H. (2001)
    9. Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. (PubMed id 11391798)1, 2, 9 Taschner P.E.M.... Devilee P. (2001)
    10. Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase. (PubMed id 10482792)1, 2, 9 Hirawake H.... Kita K. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6392 HGNC: 10683 AceView: SDHDandTEX12 Ensembl:ENSG00000204370 euGenes: HUgn6392
    ECgene: SDHD Kegg: 6392 H-InvDB: SDHD

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SDHD Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for SDHD Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SDHD
    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,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     Browse for Gene Knock-down Tools from EMD Millipore
     Browse Small Molecules at EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of SDHD
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for SDHD  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for SDHD   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SDHD  
     OriGene Protein Over-expression Lysate for SDHD   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for SDHD   OriGene 3'-UTR Clone for SDHD  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for SDHD   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for SDHD  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     Browse OriGene full length recombinant human proteins expressed in human HEK293 cells   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SDHD   OriGene Custom Protein Services for SDHD  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat SDHD
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SDHD
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SDHD
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SDHD
     Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SDHD
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SDHD
     GenScript Custom Purified and Recombinant Proteins Services for SDHD GenScript cDNA clones with any tag delivered in your preferred vector for SDHD
     GenScript Custom Assay Services for SDHD GenScript Custom Superior Antibodies Services for SDHD
     GenScript Custom overexpressing Cell Line Services for SDHD CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in SDHD promoter
     Search Chromatin IP Primers for SDHD
     RT2 qPCR Primer Assay in human, mouse, rat SDHD
     GNC Network for SDHD
     SABiosciences PCR Arrays including human, mouse, rat SDHD
     Search Tocris compounds for SDHD
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     SDHD antibodies
     SDHD proteins
     SDHD lysates
     Search for Antibodies for SDHD at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for SDHD
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     SDHD Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for SDHD
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHD
     SwitchGear 3'UTR luciferase reporter plasmids for SDHD
     SwitchGear Promoter luciferase reporter plasmids for SDHD
     Search ThermoFisher Antibodies for SDHD
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHD
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

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


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SDHD gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 100 solr: 1.4