SDHD Gene
protein-coding GIFtS: 61
GCID: GC11P111991
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|
succinate dehydrogenase complex, subunit D, integral membrane... (Previous symbols: PGL, PGL1)
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Aliases for SDHD gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
|---|
| Succinate Dehydrogenase Complex, Subunit 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 | | |
Export aliases for SDHD gene to outside databasesPrevious GC identifers: GC11P114310 GC11P113469 GC11P111495 GC11P111462 GC11P107881 |
Summaries for SDHD gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for 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 themitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditaryparaganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that thislocus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternativesplicing results in multiple transcript variants. (provided by RefSeq, Feb 2013) UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521Function: Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of themitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone(coenzyme Q) (By similarity) Gene Wiki entry for SDHD
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Genomic Views 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 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
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: 11q23SDHD Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

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:
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plus strand |
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Proteins for SDHD gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: 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 Q6IRW2Explore the universe of human proteins at neXtProt for SDHD: NX_O14521
SDHD Protein expression data from MOPED and PaxDb: About this image 
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:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
SDHD for ontologies About GeneDecksing
SDHD Antibody Products: Assay Products for SDHD: |
Protein
Domains / Families for SDHD gene(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:Graphical View of Domain Structure for InterPro Entry O14521ProtoNet protein and cluster: O14521 1 Blocks protein family: IPB007992 CybS
UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521Similarity: Belongs to the CybS family |
Function for SDHD gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521Function: Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of themitochondrial 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 mitochondrialrespiratory chain (CII-4),oxidative phosphorylation,(OXPHOS),also catalyzing the seventh step of the citric acid cycle
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  |
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
SDHD for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for SDHD: Animal Models: Mouse knock-out Sdhdtm1Jlob for SDHD 11 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Sdhd):
SDHD for phenotypes About GeneDecksing
|
Pathways & Interactions for SDHD gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | TCA Cycle | | | 3 | Metabolism | | | 4 | TCA cycle II (eukaryotic) | |
Pathway sources See GeneCards unified pathways Show all pathways
3 BioSystems Pathways for SDHD 
5/6
Reactome Pathways for SDHD (see all 6)
5/6
Kegg Pathways (Kegg details for SDHD) (see all 6): UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521Pathway: 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) About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006099 | tricarboxylic acid cycle |
TAS | -- | | GO:0006121 | mitochondrial electron transport, succinate to ubiquinone |
IEA | -- | | GO:0022904 | respiratory electron transport chain |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- |
SDHD for ontologies About GeneDecksing
|
Drugs & Compounds for SDHD gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
SDHD for compounds About GeneDecksing
Browse Tocris compounds for SDHD
9 HMDB Compounds for SDHD About this table
4 DrugBank Compounds for SDHD About this table
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 
|
Transcripts for SDHD gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for 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: BF2407278 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000375549(uc001pmz.3) ENST00000528182 ENST00000528048 ENST00000528021 ENST00000526592 ENST00000525291 ENST00000530923 ENST00000534010
Clone Products: |  | 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) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for SDHD | |  | Vector BioLabs ready-to-use adenovirus/AAV for 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 1371 AceView cDNA sequences (see top 24): BQ962548 BG024667 BU839269 BG403639 AA315473 BE207116 AL561498 BM758814 BQ938179 T24605 AB096252 BG501431 BE252963 AX747181 AA303046 BU660434 BE905245 BQ083930 BM272428 AA306311 CK002387 BM922264 BM827899 CB054080 BG676388 CB155985 NM_031275 BG527535 CD708042 BC029506 BI833790 AA296985 BE877634 BU159491 BM720390 BM693361 BQ272144 BI821074 BM904202 BF698281 BQ639133 AK091783 BM312481 BC071756 BQ222328 CD245358 CB161846 AA297523 CA394937 BI868737 BM469844 CD105572 BM818783 BG106140 BC015188 BG741173 CB054053 CB216076 BQ229571 BU732625 CB160539 NM_031938 CB157471 CA947141 BX354210 BG569394 CK430277 BC041656 CR617068 AA298733 BM476425 AA421012 BM823116 CB162567 CB269669 AJ709307 AA302990 BX476384 BC022350 BG777242 BG502317 BG527800 BG494178 BG532598 BG529552 BF667118 BG504726 CB962454 BU166401 BG494936 BG494749 CA453375 BG531005 BG166568 BF701199 BE748763 BG614615 BG613834 BI836806 BG566314 CB054079 BI819162 CD638607 BG536039 AA576734 BG496178 BF672658 BU194216 BG610865 BG617680 BF666598 BM272221 AI701392 CD237776 BM353054 BG700442 CA946862 AW089785 BI254077 BF575593 BG687409 AA995785 CA415110 BG494733 BI491037 BG563557 BG541637 BX329991 BI253668 CA413282 BF184575 AI262756 CD367399 AI073763 AV757407 BG504097 CB999579 BF665977 AA594536 AV705682 NM_003002 BG611944 BG613220 BG504524 CF596194 CK002101 BG687604 BG494902 BG563272 BP354058 BG682061 BG501258 BI092104 BU655757 AI262604 BM785302 BG502952 BU678824 AW272831 BI561514 AA398817 AI972092 AK027801 BG484249 BG613374 AW081290 BM475175 BG577179 AW439529 BG428522 CA436645 BG616011 BU941239 BE748128 BG497353 BG776375 AW243738 BG428111 BG503884 BG504510 BG535046 BG568747 BG431114 BF028523 AA298664 BF028093 BG493438 BF669152 AA298476 BG504418 BG611782 BE739520 BG534771 BG565074 BG492532 BG429953 AA398568 BF700142 BF672369 BG779603 AI275968 BG527283 BU078640 BG527668 BM678727 BG776363 BG566513 BG687006 BG541903 BG531538 BF698525 AI369572 BG501916 BF055139 BM992070 BG505701 BG400782 BM921063 AI022481 BU621122 BG530469 BG402111 BG538761 AI418684 BQ677394 BQ000415 BQ214116 R31138 AA297843 BG776901 BG433407 CD559440 BE566395 BF699625 BU561091 AI203013 BU161235 AA781574 CA441666 BG494833 BG505094 BG396978 BF666671 BG615140 BM477687 BG565120 AK075360 BF207676 BX503569 AW024449 BE738542 BG505868 BE379971 BF666017 BI767441 BG399228 BG569591 AI473264 AI274325 AV715701 BF699441 BG400387 N72969 BF701638 BG254845 AI969515 BG533810 BE748058 AI686566 BU950934 BF699618 BG427422 AI064808 AA297884 BG778735 BF696605 BG532441 BG430130 BG503368 BG530384 AB006202 BQ286744 BG614204 BE885758 BX396327 BG546120 CB053865 AW028365 BG494699 BE675248 BG032118 BF212430 AI701535 BE748247 AW515484 BF184116 BG505421 BG501719 BU600433 BG687042 BP357966 CA848828 BG503173 BE778251 AW955246 BG548503 AV710004 BF669231 AA054014 BU852437 H65195 AA035383 BC071755 AI423183 AF285600 BG400457 BG496321 BG533627 CD692086 BE379886 BE748704 AW078912 BG533055 BG610631 BG502672 BU737974 AI418618 BG563736 BG527346 BE568213 BF665909 BG718838 AL047871 BI908454 BG533150 BQ000657 BG611164 AW072772 BG495700 BG494392 BM560482 BE884781 BF212316 BE748668 R37628 BI862746 BM782871 BG428562 N40687 BQ432748 AW192263 AA936817 AA648534 BG687046 AI753083 BG504742 AW473421 BG390039 BG506226 BG563753 BG527710 AW572174 BF431478 AA047823 AA813773 BF184515 CB963132 BU657054 BG562720 BM353352 N51500 BC015992 BU849279 AI284988 BE880236 AI348441 BG391660 BG616795 BM314988 BG617528 BG504401 BG529609 AV715023 BG402314 BQ932668 AA296923 BG165568 AI983450 CR456932 BG495141 CA748720 BG614614 AI609501 AA995183 BF211066 AW513089 BG534514 BU567704 BG533244 BI850337 CB960142 AI889302 BE777706 BG563253 BG402549 BX103977 BG779932 BF183913 AI819587 BG778645 BF665908 BG687381 CD103823 AA804772 BG494927 CD678617 BF575581 BM969835 AV706347 BG532486 BG497611 BG428709 BG499834 BG613199 AA393496 BU631575 AI284070 BG614222 BU853330 AI262773 CA431826 BC070307 BM993915 BM908137 AF276432 BG430168 BF104779 BG501795 AV710461 BU929966 AW512216 BG527799 AA576676 BE866666 AA579646 CA435658 BG169620 BG493562 AW029610 BI820608 BG400730 BG614134 BG528296 BG427142 BG492447 BG701085 BG615740 BG502752 BG533873 BC005263 CB852725 BM968386 BG497071 BG777848 BG426133 CB305465 BG531210 AW959673 AV764107 BQ183244 BC012603 BM014133 AA281732 CD359668 BF211316 CB853541 BG527278 BF126255 BG776540 AA298591 BG504181 BG776740 BG499864 BG291895 BF576266 BU182990 BF207758 T31432 BG771235 AW768685 BG429241 AI003557 BG502033 AW615533 BG615703 BM819297 BG564735 BI757355 CB956386 AI283661 BG496458 BG493837 BQ438751 BG398602 BG499490 BQ217130 H98039 BU569177 AA962638 CA308458 BI857350 BG777282 BG501151 BM668635 BU853646 CA311050 BG527233 AW028070 BG506075 BG527797 BG527013 BI522734 BG776458 BG502875 BG391858 BG770957 BG501991 AI304373 BG495621 BG527604 BG483643 AI300567 BG687002 BU182494 BG505380 AA740166 BU940005 AI167823 AV710838 BP376448 BU570218 BG528937 BG615139 BG505151 AL036186 BG504370 BM091447 BE393191 AI476020 BU930400 BG504926 AA999959 AI276617 BU678212 BG495291 BE748731 BG492570 AW770165 BG505732 BG611275 BG533180 BF029117 BG531278 BU933753 BG485550 BU171353 BG615271 BG030502 BT007238 BG529021 BG676663 CA435344 BU570192 BQ000498 BG485126 BU941396 BG613354 BG617972 BG493960 BG532188 BE566246 BC009574 BF793482 BG187655 BG494606 BG505964 BG611536 BG617133 BG565896 AI830981 BF666348 CK001612 BM548216 AW001623 BG618124 AA922636 AI073789 CD516792 BG616015 BG502760 AI805747 AI242533 AA725046 BG501156 BG536101 AW339125 BM769499 BE546206 AI803554 AI521038 BG119765 BG612489 CB957243 AW204825 T58874 BG776938 CB054052 BG777766 BG502335 BU932596 BG545916 CF596686 BG779642 BF701217 CD102799 BF665569 BG248894 BU688163 BG776384 BQ271817 BG502769 BG285543 AJ290393 BG617544 BG565672 BF212264 BG532295 BF676825 BF211398 BG495041 BG494180 BQ000300 BC047934 BE866755 AW027345 BG687407 BG430977 BG771365 BE748455 BF028867 BF244161 BG615624 BG700339 AI598021 BQ270086 BG496007 BG528507 BG432069 BX435070 BF183834 BG528047 BF210228 BF694196 BF669814 AA297115 BF701244 BG399860 BE866299 BF542176 BF242926 BF245020 BG614216 BF701341 BF132664 BF677687 BF676015 BG504582 BF574853 N94940 AA630589 AI568193 BF695444 BF211552 BF239148 BF697720 BF032126 BF184584 BF666477 BF691693 N53645 BG612531 BF028617 BF694862 AA306998 BF789931 BF669758 BG498719 BF695435 CD520555 BF218086 BG498920 BF103987 BG495243 BG527142 BF243406 CD702304 BE958167 BF692309 BE566624 BF672605 BF699459 BI093275 BE569019 BG187656 BF126077 BF977700 BG402357 BG496446 BF028287 BE565802 BF694312 BG545574 BU934395 CD357241 BF699403 BU952700 BF672708 AA857576 BF239250 BG506126 BG433360 BF669842 BF209852 BG499156 T67231 BF213347 AI459593 BF211437 N26261 BE567310 BG496332 BF666288 BF695572 BG505560 BG531517 BE566225 BF184094 BG495973 BF577141 BF835025 BE738032 R57079 BF697954 BF672659 AI523249 BF671633 BF574718 BE139194 CF596666 AI817091 N23966 BF208146 BF668842 BG531493 BE565200 BI833977 BF132743 BF976927 AW614756 CD299624 BF667103 BE748542 BE865542 BF668965 BI862156 AI872047 AA054006 BF210246 BF666425 BE739256 BF666977 H86469 BF697855 BF695392 AA298480 BF698607 BE563962 BG495502 N27927 BF791257 BF695569 CF595627 BF126378 BF242453 BF858160 BG492859 BF574182 BF978665 BF238765 BG528267 BF104909 BF694316 CD521638 BF698257 BE564687 BU568965 BG505799 BG531814 AL036245 BF243601 AL692050 BG496583 CD693371 BE563927 BG496786 BF574151 AI719819 BF184385 BE881539 BF679002 H98938 BG400068 BF700399 BF790611 BF184764 H86576 AA297305 BF211113 BF207694 BF672254 BF207543 R91018 H81657 BF695166 BF697540 BG531738 AI280953 BE865701 AU099484 N56243 N33298 BF211484 BF697356 BF211358 BF213040 BE866459 BF184170 BF665900 AA035384 BE777521 BF212324 BG400310 BF211724 R88759 BF212420 BG401003 BE379806 BF668671 BF695426 BG493452 BE958206 BF667309 BG433399 BG532918 BF540788 BF215125 AA152494 BF965320 BF244442 AW022485 AW015714 BG527456 AA001652 BF666727 BF574277 BF126336 BE958240 BG527407 BF697539 BF665627 BU194126 BE566609 AA297580 BE564332 BF029101 BG495538 BF697726 BF103967 CD515253 BF698463 BG494818 AL554471 BG563290 BF239134 BF697228 CF134739 BF211686 BF212126 BF212431 BF672681 AI857741 BF700023 BG492631 BE960884 BM457331 BE737552 BF184424 BG566549 BF028100 BG615895 H97337 BF677662 BF185006 BF696004 BF576057 BF211015 BE563899 BF028249 AA298265 BF028769 W02951 BG565478 BU561115 H85510 BF666697 BF699061 BF103958 N35386 AV709884 CD104625 BF028669 BG494870 BF242529 BF700619 BG432566 CA848894 BF699582 BF027731 BF669781 BE958129 N44828 BF242815 BI858837 AA521192 BG527911 BG425837 BU959451 BF382755 R57149 CD707748 BF207944 CD694700 BF977774 BG527881 AV724656 BF694222 BF791049 BF104771 BM981005 BF669409 BF241083 BF542069 BU595214 AA297903 AA019753 BF245269 BF028338 BG563502 BF211646 BX353067 BF210544 BF696325 BI856588 BF214604 BF574601 BG492667 BE568253 BG613731 BE564824 CD706856 N55910 BF670006 BF692007 BF667759 BE958477 CD695411 BF207518 BF212668 BG494486 BF668144 BF031269 BF977195 BE569161 BF218223 BF030515 BF540931 BE865941 BF212819 BF238942 BE567553 BF184224 CD704330 BF029273 BF132633 BF670923 BF977098 BG433494 BE379746 BF699141 BF667649 BF105881 BF211665 BF694936 BE565746 BG492707 BF977855 BE568330 BF212995 BF696015 BG495464 CD236678 BF212003 BF699365 BF844325 BF028656 BX419391 BF665400 BF242437 BF103819 BF692899 BF239921 BE567489 BF668927 BE738197 BF666392 BF210659 BF213543 BF028599 AA298091 BG498766 AV714331 BU166224 BF238805 BF242319 BG505641 BE958610 BF700565 BE865876 BE564270 BE564744 BG402539 BE566913 CD698467 BG614739 BG545707 BG899977 BF667833 R80515 BF670032 CD699997 BF697994 BE565690 BG495553 BF668185 AI783892 CB053189 BF573359 BF670361 BG500331 H78252 BF132565 AA431056 BF668177 BE960882 BF697775 CB053864 T86149 BF239198 BF029013 BF219153 BF668890 BE565513 BE565345 AV723194 BF698941 BF697048 BF208904 BF701666 BF208876 BF790917 BF208718 BF665258 T67230 BF694013 BF695129 BF667651 BF674958 BG502945 BF381938 BF790947 BF214798 BF248399 BF698964 BG529227 BF668182 BG504031 BF239423 BF185059 BF977617 AA298047 BG494027 BF243600 BE567790 CD103241 BE568531 BF673257 BF029300 CD700535 BF670098 BF675641 BF696063 BE568270 BF668956 BF687879 BF671354 BF029319 BE866397 BE566529 BF028381 N56298 BE865915 BF790638 BE865715 BE568887 AA019787 BF693380 BG498554 BF184109 BF572039 CD512504 BE961000 BF692939 BF242285 AV710579 BF239869 BF215005 BF977661 BF243874 BE565335 BF242522 BF687971 BU928358 BG547857 AA843621 BF667796 H60874 BG529537 BG614219 BE565844 BE958461 BF700858 T64987 BF976943 BF240391 BF130070 BF238411 BF664830 BF835033 T86258 CD684921 BF694411 BF126268 BF241768 BF247403 N55815 BF575037 AV758857 BF574406 AW813972 BE567534 AA047848 BF239981 CD558492 BG615510 BE567134 BF209302 R89140 BF790735 BV179571 BF132528 BF030801 BG400016 BQ308985 BF671280 BF185103 BG494078 BE866440 BF209541 BF675842 BQ308720 BF576693 H40864 BF977540 BF211408 BF239941 BF214738 BE567448 BF573234 BE866374 BF211910 BF574353 BF214472 BF030348 BF243829 BF240154 BF208465 CK002571 BF577226 BF103906 AI963042 BF687570 AW884582 BF576818 BE564223 BF208166 BE565583 H60875 W19557 BF576850 BF668184 BF130645 BF247527 BF700906 BG614309 BF244502 AL577158 BF571040 BF029138 BF210734 BF667610 BF219232 BF668423 BF238503 BF241771 R79574 BE567587 AW190249 BG537921 BG505846 BE568070 BF239193 R84327 CD103434 BF666083 BF184655 R32639 BF664870 BF241065 BM010244 BF185516 AV740301 BF673169 BF790119 BF216078 BF699529 BF209240 BF219047 BF572687 R85760 BF029367 BF242625 BF697839 R89133 BF240084 BF209490 BG496103 BF132844 BF239059 W21533 CD000503 BF666706 BF664778 BF239943 R23563 H81658 BG400884 N95157 BF571783 H41060 BE566288 BF213792 BE567949 BF208081 BF665382 T79921 BF242075 BF208623 BG618528 CA848890 BF243153 BF209155 BF668412 BF665168 BF668702 BF214457 BF692736 BF976866 BG401447 BU930340 BE566208 BE566820 BE566124 BF246859 BU569097 BF247142 BF213779 H82781 BF241184 BF695888 BG498967 BF214203 BG528166 W73982 BF572400 BE565818 BF208634 BG503990 BF670155 BE565359 BF242263 BF243796 T71736 BF240541 BG431857 R58759 BE566821 BE568488 BE971083 BF968558 BQ438470 AA248082 BF238471 AW020013 BE568936 BE958589 BF209109 BE866383 BF984647 H78454 BF667440 BF027883 BF214313 BE777578 BG537214 CF595952 BF977074 BG024983 BF242676 BF211347 BF130898 CA453759 BF029134 CK003426 BF243325 BF343092 BF212117 BF240852 BE567854 T58934 BF238854 BE171595 GeneLoc Exon Structure
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Expression for SDHD gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| SDHD expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: AATAAAAACT
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:
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 for SDHD gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for 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 for SDHD gene(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
|
Genomic Variants for SDHD gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 11 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
|---|
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 |
|
Disorders
/ Diseases for SDHD gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
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 derivedfrom the chromoreceptor tissue of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized bythe development of mostly benign, highly vascular, slowly growing tumors in the head and neck. In the head and neckregion, 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]. Acatecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinalsymptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may bepersistent 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, lessfrequently, in other parts of the gastrointestinal tract Defects in SDHD are a cause of paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]; also calledCarney-Stratakis syndrome. Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominantmanner, alone or as a component of a syndrome associated with other tumors, such as in the context ofneurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibilityto 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 cancerpredisposition syndrome associated with elevated risk for tumors of the breast, thyroid, kidney and uterus 20/55 diseases for SDHD (see all 55): About MalaCardsparagangliomas, 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
|
Publications for SDHD gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for 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 |
- 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)
- Germ-line mutations in nonsyndromic pheochromocytoma. (PubMed id 12000816)1, 2, 4, 9 Neumann H.P.H.... Eng C. (2002)
- 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)
- 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)
- 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)
- Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (PubMed id 10657297)1, 2, 9 Baysal B.E.... Devlin B. (2000)
- 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)
- Germline SDHD mutation in paraganglioma of the spinal cord. (PubMed id 11526495)1, 2, 9 Masuoka J.... Ohgaki H. (2001)
- 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)
- 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)
|
External Searches for SDHD gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing SDHD gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing SDHD gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing SDHD gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for SDHD | Pharmacogenomics, SNPs, Pathways | | ATLAS Chromosomes in Cancer entry for SDHD | Genetics and Cytogenetics in Oncology and Haematology | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SDHD | | Wikipedia | http://en.wikipedia.org/wiki/SDHD | | TCA Cycle Gene Mutation Database | http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHD |
|
| | |
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
|
Products for SDHD gene(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 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 | | |
| |  |
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| | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHD |
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| | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHD |
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