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

SDHD Gene

protein-coding   GIFtS: 67
GCID: GC11P111991

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


(Previous symbols: PGL, PGL1)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Succinate Dehydrogenase Complex, Subunit D, Integral Membrane
Protein1 2
     SDH42 3
PGL11 2 5     CBT12
PGL1 2     CWS32
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 carotid body tumor, and merkel cell carcinoma, and among its related super-pathways are Citric acid cycle (TCA cycle) and Electron Transport Chain. GO annotations related to this gene include electron carrier activity and heme 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NT_033899.8  NC_018922.2  
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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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

Explore proteomics data for SDHD at MOPED 

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

SDHD Protein Expression

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 for SDHD: 
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 for SDHD
OriGene Custom MassSpec 
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 Sino Biological Cell Lysates 
Browse ProSpec Recombinant Proteins
Cloud-Clone Corp. 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
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OriGene Custom Antibody Services for SDHD
GenScript Custom Superior Antibodies Services for SDHD
Novus Biologicals SDHD Antibodies
Abcam antibodies for SDHD
Cloud-Clone Corp. Antibodies for SDHD 
ThermoFisher Antibodies for SDHD
LSBio Antibodies in human, mouse, rat for SDHD 

Assay Products for SDHD: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Assay Services for SDHD
Browse R&D Systems for biochemical assays
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)
About This Section
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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    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  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 - Custom generated mouse model solutions for SDHD 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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:
    
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 RNAi products in human, mouse, rat for SDHD
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SDHD

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for SDHD
Sirion Biotech Customized adenovirus for overexpression of SDHD

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for SDHD (see all 7)
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
Sirion Biotech Customized lentivirus for stable overexpression of SDHD 
                     Customized lentivirus expression plasmids for stable overexpression of 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


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

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

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

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


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


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.


5/8         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

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: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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

SDHD for compounds           About GeneDecksing

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

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)

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

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, 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: NM_001276506
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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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 RNAi products in human, mouse, rat for SDHD
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat SDHD
Clone
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OriGene clones in human, mouse for SDHD (see all 7)
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
Sirion Biotech Customized lentivirus for stable overexpression of SDHD 
                     Customized lentivirus expression plasmids for stable overexpression of SDHD 
Primer
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OriGene qPCR primer pairs and template standards for SDHD
OriGene qSTAR qPCR primer pairs in human, mouse for SDHD
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 mRNA 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 NR_077060.1 

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 

1371 AceView cDNA sequences (see top 24):

CB054053 CB216076 BQ229571 BU732625 CB160539 NM_031938 CB157471 CA947141 
BX354210 BG569394 CK430277 BE207116 BG403639 BU839269 BM823116 AA315473 
BC041656 CB269669 CB162567 BQ962548 AL561498 AJ709307 BC022350 BX476384 
AA302990 BM476425 AA421012 BG024667 AA298733 CR617068 BM469844 CD105572 
BM818783 BG106140 BC015188 BG741173 BM758814 BQ938179 T24605 AB096252 
BG501431 BE252963 AX747181 AA303046 BU660434 BE905245 BQ083930 AA306311 
BM272428 CK002387 BM922264 CB054080 BM827899 BG676388 CB155985 NM_031275 
BG527535 CD708042 BC029506 BI833790 AA296985 BE877634 BU159491 BM720390 
BQ272144 BM693361 BI821074 BM904202 BF698281 BQ639133 AK091783 BM312481 
BC071756 BQ222328 CB161846 CD245358 AA297523 CA394937 BI868737 CA311050 
BG506075 BG527797 BG391858 BI522734 BG776458 BG502875 BG527013 BG770957 
BG495621 BG483643 AI300567 AI304373 BG501991 BG527604 BG687002 AA740166 
BU182494 BG505380 BU940005 AV710838 AI167823 BP376448 BG528937 AL036186 
BG615139 BG505151 BU570218 BG504370 BE393191 AI476020 BM091447 BG504926 
BU678212 BU930400 AA999959 AW770165 BG495291 AI276617 BE748731 BG492570 
BG611275 BG505732 BU933753 BG533180 BF029117 BG030502 BG485550 BU171353 
BG531278 BG615271 BT007238 CA435344 BG529021 BG676663 BU570192 BG532188 
BG485126 BG493960 BG617972 BU941396 BQ000498 BG613354 BE566246 BG494606 
BF793482 BG187655 BC009574 BG611536 BG505964 BG248894 BG566314 BF244161 
BI836806 BG613834 BI819162 BF701199 BE748763 BG531005 BG614615 BF665569 
BG700442 BG494749 CD102799 BM272221 BG617680 BM353054 CD237776 AI701392 
BG610865 CB054079 BU194216 AA576734 BF666598 BG779642 BG536039 BF701217 
BF672658 CD638607 CA453375 BG166568 AI803554 BG496178 BG776384 AW001623 
BM548216 BG501156 AI242533 BG502769 AA922636 AI073789 CD516792 BG618124 
BG616015 BG285543 BG502760 AW339125 BQ271817 AA725046 AI805747 BG527800 
BF666348 BU688163 BG565896 BG565672 BG771365 BG502317 BG777242 BQ270086 
BG545916 BG430977 AJ290393 AW089785 CK001612 BE748455 BG615624 BF212264 
CA946862 BF211398 BG687407 BE866755 BG532598 BG494180 AW027345 BF676825 
BQ000300 BC047934 BG529552 BG532295 BG494178 BG495041 BG617544 AI830981 
AI598021 BG700339 BF028867 BG617133 BU932596 BG502335 CF596686 BG536101 
BG777766 T58874 BG776938 CB054052 CB957243 AI521038 BM769499 AW204825 
BF667118 BG119765 BG504726 CB962454 BU166401 BE546206 BG494936 BG612489 
AA579646 BG400730 BG493562 BI820608 BG614134 AW029610 BG528296 BG492447 
BG427142 BG701085 BG615740 CB852725 BG502752 BG497071 BG533873 BC005263 
BM968386 CB305465 BG777848 BC012603 BG426133 BG531210 BQ183244 AW959673 
AV764107 BG527278 BM014133 CD359668 AA281732 BF211316 CB853541 BF126255 
BG776740 AA298591 BG776540 BG499864 BG504181 BG291895 T31432 BF207758 
BU182990 BG615703 BG771235 BF576266 AW768685 BG429241 AI003557 BM819297 
AW615533 BG564735 BI757355 BG502033 CB956386 AI283661 BG496458 BG493837 
BQ438751 BG499490 H98039 BQ217130 BG398602 BG777282 BU569177 CA308458 
AA962638 BI857350 AW028070 BM668635 BG501151 BU853646 BG527233 BI254077 
BG687409 BF575593 CA415110 AA995785 BG494733 BX329991 BI491037 BG541637 
BI253668 CD367399 BG563557 CA413282 AI073763 AV757407 AI262756 BF184575 
BF665977 AV705682 CB999579 AA594536 BG504097 NM_003002 BG613220 BG504524 
BG611944 CF596194 CK002101 BP354058 BI092104 BG563272 BG682061 BG687604 
BG494902 BG501258 AI262604 BM785302 BU655757 BG502952 BU678824 AA398817 
BI561514 AI972092 AK027801 BG484249 AW272831 BM475175 AW081290 BG613374 
AW439529 BG577179 BU941239 CA436645 BG428522 BE748128 BG776375 AW243738 
BG616011 BG497353 BG428111 BG503884 BG535046 BG504510 BF028523 BG568747 
BG431114 AA298664 BG493438 BF028093 AA298476 BF669152 BG504418 BG565074 
BG611782 BG492532 BG534771 BE739520 AA398568 BG429953 BG779603 BF700142 
AI275968 BG527283 BU078640 BF672369 BM678727 BG527668 BG687006 BG776363 
BG541903 BG531538 BF698525 BG566513 BG501916 AI369572 BF055139 BG400782 
BM992070 BG505701 BM921063 BU621122 BG402111 BG538761 BG530469 BQ000415 
R31138 AI022481 BQ677394 BQ214116 CD559440 BG776901 AI418684 BF699625 
AA297843 BE566395 AI203013 BG494833 BU561091 BG433407 BU161235 CA441666 
BG505094 AA781574 BG615140 BG396978 BF666671 BF207676 AW024449 BM477687 
BG565120 AK075360 BE738542 BE379971 BX503569 BG505868 AI473264 BI767441 
BF666017 AI274325 AV715701 BG569591 BG400387 BG399228 BF699441 N72969 
BF701638 AI969515 AI686566 BG533810 BE748058 BU950934 BG254845 BF699618 
AA297884 AI064808 BG427422 BG778735 BG430130 BG530384 BG532441 BF696605 
BG503368 BQ286744 AB006202 BG614204 CB053865 BG546120 BX396327 AW028365 
BG032118 BG494699 AW515484 BE885758 BF212430 BE748247 BE675248 AI701535 
BG505421 BF184116 BU600433 BP357966 BG501719 BG687042 CA848828 BE778251 
AA054014 AV710004 BG503173 BG548503 AW955246 AA035383 BF669231 H65195 
BC071755 BU852437 AF285600 BG496321 BG400457 CD692086 AI423183 BG533627 
BE379886 BG610631 AW078912 BG533055 BG527346 BF665909 AI418618 BU737974 
BE748704 BG502672 AL047871 BG563736 BG718838 BE568213 BG533150 BI908454 
BQ000657 BG611164 AW072772 BG494392 BG495700 BE884781 BM560482 BF212316 
BE748668 N40687 AW192263 BM782871 R37628 BQ432748 BG428562 BI862746 
AA936817 AA648534 BG504742 AI753083 AW473421 BG687046 BG527710 BG390039 
BG506226 BG563753 AA813773 AW572174 AA047823 BF431478 BU657054 BF184515 
CB963132 N51500 AI348441 BG562720 AI284988 BU849279 BM353352 BG391660 
BE880236 BC015992 BM314988 BG504401 BG529609 BG617528 BG616795 BG402314 
AV715023 BQ932668 AI983450 AA296923 BG165568 AA995183 CR456932 BG614614 
AI609501 BG495141 AW513089 CA748720 BG533244 BG534514 BI850337 BF211066 
CB960142 BU567704 AI889302 BE777706 BG563253 BG687381 BG402549 AI819587 
BF183913 BX103977 BG778645 BG494927 BF665908 BG779932 BF575581 CD103823 
AA804772 CD678617 AV706347 BM969835 BG532486 BG499834 BG428709 BG497611 
BG614222 BG613199 BU631575 AI262773 AI284070 BU853330 AA393496 BM993915 
BM908137 CA431826 BC070307 AF276432 AV710461 BG501795 BF104779 BG430168 
BE866666 BU929966 AW512216 BG527799 BG169620 AA576676 CA435658 BF210228 
BF667309 BF540788 BG532918 BG433399 AA152494 AW022485 BF215125 BF244442 
BF965320 AW015714 BG527456 BF574277 BF126336 BF666727 AA001652 BE958240 
BG527407 BF697539 BF665627 BE566609 AA297580 BU194126 BF029101 BE564332 
BF697726 BG495538 BF103967 CD515253 BF698463 BG494818 BF694196 BF542176 
BF701244 AA297115 BE866299 AV709884 BF028669 BG399860 BF696004 BF185006 
BF574853 BF669814 BF676015 BF677687 BF242926 BF245020 BG504582 BG614216 
BF132664 BF701341 CF134739 BF697228 AA298265 BF239134 BE563899 BF212126 
BF211686 BF212431 BF672681 BG496007 H97337 BF103958 BG615895 BF028249 
AL554471 N35386 BG565478 BF576057 BF184424 BF699061 BF666697 BG528507 
BF028769 BU561115 BF211015 W02951 H85510 CD104625 BF028100 BG494870 
BF677662 BG563290 BF183834 BE737552 AI857741 BX435070 BE960884 BG566549 
BF700023 BG528047 BG492631 BG432069 BM457331 BF679002 H98938 BF700399 
BE881539 BF790611 BF184764 BG400068 AA297305 BF207694 H86576 BF211113 
H81657 R91018 BF207543 BF672254 BG531738 BF695166 AI280953 BF697540 
BE865701 AU099484 N33298 N56243 BF213040 BF211484 BE866459 BF697356 
BF211358 BF665900 AA035384 BE777521 BF184170 BF212324 BG400310 BF211724 
R88759 BG401003 BE379806 BF695426 BF212420 BF668671 BE958206 BG493452 
N94940 AI568193 AA630589 BF695444 BF211552 BF697720 BF239148 BF032126 
BF184584 BF691693 BF666477 N53645 BG612531 BF028617 BF694862 AA306998 
BF789931 BG498719 BF669758 CD520555 BF103987 BG498920 BF695435 BG527142 
BF243406 CD702304 BF218086 BG495243 BE958167 BE566624 BF699459 BF692309 
BF672605 BI093275 BG187656 BE569019 BF977700 BG402357 BF126077 BG496446 
BF028287 BE565802 BF694312 BG545574 CD357241 BU934395 BF699403 AA857576 
BU952700 BF239250 BF672708 BG506126 BF209852 BG433360 BF669842 BG499156 
BF213347 AI459593 T67231 N26261 BF211437 BE567310 BG496332 BF666288 
BF695572 BE566225 BG531517 BG505560 BF184094 BG495973 BF577141 BE738032 
BF835025 R57079 BF697954 BF672659 AI523249 BF574718 BF671633 BE139194 
CF596666 BF208146 AI817091 BF668842 N23966 BG531493 BI833977 BE565200 
BF976927 BF132743 CD299624 BE748542 AW614756 BF667103 BE865542 BF668965 
BI862156 AI872047 BF210246 BF666425 AA054006 BF666977 BE739256 H86469 
BF697855 AA298480 BF695392 BF698607 BG495502 BE563962 N27927 BF791257 
CF595627 BF695569 BF126378 BF242453 BF858160 BG492859 BF978665 BF574182 
BG528267 BF238765 BF104909 BF694316 CD521638 BF698257 BU568965 BE564687 
BG505799 AL036245 BG531814 BF243601 AL692050 BG496583 CD693371 BG496786 
BE563927 BF574151 AI719819 BF184385 BE960882 BF697775 CB053864 BF239198 
T86149 BF029013 BF668890 BF219153 BE565513 BE565345 BF698941 AV723194 
BF697048 BF208904 BF701666 BF790917 BF208876 BF208718 BF665258 T67230 
BF694013 BE567790 BF695129 BF699582 BF027731 BG432566 BF669781 CA848894 
AA298047 BF667651 BF214798 BF674958 BF977617 BG502945 BF381938 BF248399 
BF790947 BF698964 BG529227 BG494027 BE568270 BF243600 BF671354 BF668956 
CD700535 BE568531 CD103241 BF670098 BF675641 BF696063 BF673257 BF029300 
BE958129 BF687879 BG504031 BF239423 BF700619 BF185059 BF242529 BF668182 
BE865876 BE958610 BE564270 BG402539 BE564744 CD698467 BE566913 BG614739 
BG545707 BG899977 BF667833 R80515 BF670032 BE565690 CD699997 BF697994 
BF668185 BG495553 AI783892 CB053189 BF573359 BF670361 H78252 BF132565 
BG500331 AA431056 BF668177 N44828 BI858837 BF242815 AA521192 BG527911 
BG425837 CD707748 BU959451 BF382755 R57149 BF207944 BF977774 CD694700 
AV724656 BF694222 BG527881 BF791049 BF104771 BM981005 BF669409 BF241083 
BF542069 BU595214 AA019753 AA297903 BF245269 BF028338 BF210544 BG563502 
BX353067 BF211646 BF696325 BI856588 BF214604 BG492667 BF574601 BE568253 
BG613731 BE564824 CD706856 N55910 BF670006 BF212668 BF207518 BF692007 
BF667759 BE958477 CD695411 BG494486 BF668144 BF031269 BF977195 BF218223 
BF030515 BE569161 BF540931 BE865941 BF238942 BF212819 BE567553 BF184224 
CD704330 BF132633 BF029273 BF670923 BF977098 BG433494 BE379746 BF699141 
BF667649 BF105881 BF211665 BF694936 BE565746 BF977855 BG492707 BE568330 
BF212995 BF696015 BF212003 CD236678 BF699365 BF844325 BG495464 BX419391 
BF028656 BF665400 BF103819 BF242437 BF692899 BF239921 BF668927 BE567489 
BE738197 BF210659 BF666392 BF028599 BF213543 AA298091 BG498766 BF238805 
AV714331 BU166224 BF242319 BG505641 BF700565 BE866440 BF209541 BF675842 
BQ308720 BF576693 H40864 BF211408 BF239941 BF977540 BF028381 BE566529 
BE865915 N56298 BF573234 BE866374 BE567448 BF214738 BF211910 BF103906 
BF030348 BF243829 BE564223 AI963042 BF687570 BF208465 BF577226 CK002571 
BF240154 BF576818 AW884582 BE866397 BF029319 BF574353 BF214472 BF030801 
BG400016 BQ308985 BF671280 BF185103 BG494078 BF790638 BE865715 BE568887 
AA019787 BF693380 BG498554 BF184109 CD512504 BE961000 BF572039 BF692939 
BF242285 AV710579 BF239869 BF215005 BF977661 BF243874 BE565335 BF242522 
BU928358 BF687971 BG547857 BF667796 H60874 AA843621 BG529537 BE958461 
BG614219 BE565844 BF700858 BF976943 T64987 BF240391 BF130070 BF238411 
BF664830 BF835033 T86258 CD684921 BF694411 BF241768 BF126268 BF247403 
N55815 BF575037 AV758857 BF574406 AW813972 BE567534 AA047848 BF239981 
CD558492 BE567134 BG615510 BF209302 R89140 BV179571 BF790735 BF132528 
BF697839 R89133 BF240084 BF209490 BG496103 BF132844 BF239059 BF664778 
CD000503 W21533 BF666706 H81658 R23563 BG400884 BF208166 N95157 
BF571783 BE565583 H60875 BF239943 BF673169 BF790119 BF216078 BF699529 
BF209240 BF572687 BF219047 R85760 BF029367 BF242625 W19557 BF576850 
BF247527 BF130645 BF668184 BF700906 BG614309 BF244502 BF571040 AL577158 
BF029138 BF210734 BF667610 BF219232 BF668423 BF238503 BF241771 R79574 
BE567587 AW190249 BG537921 BG505846 BE568070 BF239193 R84327 BF666083 
CD103434 BF184655 R32639 BF664870 BF241065 BM010244 BF185516 AV740301 
BF208634 BG503990 BF670155 BE565359 BE566288 BF213792 T71736 BF242263 
BF968558 BE971083 BG431857 BE566821 BE568488 BF240541 R58759 H41060 
BF243796 W73982 BF572400 BE565818 BE567949 BF208081 T79921 BF665382 
BF242075 BF208623 BG618528 CA848890 BF243153 BF209155 BF668412 BF665168 
BF668702 BF214457 BF692736 BG401447 BF976866 BU930340 BE566208 BE566820 
BE566124 BF246859 BU569097 BF247142 BF213779 H82781 BF241184 BF695888 
BG498967 BF214203 BG528166 CF595952 BF977074 BG024983 BF242676 AA248082 
BF238471 BQ438470 BF130898 BF211347 BE777578 BG537214 AW020013 BE568936 
BE958589 BF209109 BE866383 BF984647 H78454 BF667440 BF027883 BF214313 
BF238854 BE171595 T58934 CA453759 BF029134 CK003426 BF243325 BF343092 
BF212117 BF240852 BE567854 

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)      SDHD embryonic expression: see
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 
 5/20 selected tissues (see all 20) fully expand
 
 Brain (Nervous System)    fully expand to see all 3 entries
         Medulla Oblongata
         ganglion/cranial   
 
 Heart (Cardiovascular System)    fully expand to see all 2 entries
         heart/ventricle   
 
 Nose (Sensory Organs)    fully expand to see all 2 entries
         sensory organ/nose/nasal cavity   
 
 Blood (Muscoskeletal System)    fully expand to see all 2 entries
         mouse/organ system/cardiovascular system   
 
 Adipose (Muscoskeletal System)    fully expand to see all 2 entries
         Thoracic Perivascular Adipose

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 qPCR primer pairs and template standards for SDHD
OriGene qSTAR qPCR primer pairs in human, mouse for SDHD
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 6/13 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 63.5(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)
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...
35(a)
1 → many
II(11049144-11051753)


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, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/353 SNPs in SDHD are shown (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
SABiosciences Cancer Mutation PCR Assays
SeqTarget long-range PCR primers 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 602690   
OMIM disorders: 168000  171300  114900  606864  612359  
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

  • 20/54 diseases for SDHD (see all 54):    About MalaCards
    carotid body tumor    merkel cell carcinoma    sdhd-related hereditary paraganglioma-pheochromocytoma syndrome    sdhd-related paraganglioma and gastric stromal sarcoma
    paragangliomas, familial nonchromaffin, 1, with or without deafness    carcinoid tumors, intestinal    pheochromocytoma    phaeochromocytoma
    cerebellopontine angle tumor    chondroma    paraganglioma    carney triad
    cowden-like syndrome    paraganglioma and gastric stromal sarcoma    hereditary paraganglioma-pheochromocytoma syndromes    gastric lymphoma
    von hippel-lindau disease    mitochondrial complex ii deficiency    neural crest tumor    neurofibromatosis

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

    SDHD for disorders           About GeneDecksing


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

    10/28 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)
    About This Section

    PubMed articles for SDHD gene, integrated from 9 sources (see all 266):
    (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. 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. (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. (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. (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. (2001)
    7. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (PubMed id 10657297)1, 2, 9 Baysal B.E.... Devlin B. (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. (2008)
    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. (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. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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