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SDHD Gene

protein-coding GIFtS: 63
GCID: GC11P111991

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

(Previous symbols: PGL, PGL1)

See SDHD-related diseases
at

MalaCards

(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		CWS3² ⁵
PGL¹ ²		CBT1²
Succinate-Ubiquinone Oxidoreductase Cytochrome B Small Subunit² ³		cybS²
Succinate-Ubiquinone Reductase Membrane Anchor Subunit² ³		Succinate Dehydrogenase [Ubiquinone] Cytochrome B Small Subunit, Mitochondrial²
CII-4² ³		CybS³
QPs3² ³		Succinate Dehydrogenase Complex Subunit D³

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

Export aliases for SDHD gene to outside databases

Previous GC identifers: GC11P114310 GC11P113469 GC11P111495 GC11P111462 GC11P107881

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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 paragangliomas 1, and cowden syndrome 3. GO annotations related to this gene include electron carrier activity and ubiquinone binding. An important paralog of this gene is ENSG00000255292.

UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521

Function: Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the

mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone

(coenzyme Q) (By similarity)

Gene Wiki entry for SDHD Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

Regulatory elements:

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

SwitchGear Promoter luciferase reporter plasmid: SDHD promoter sequence

Search Chromatin IP Primers for SDHD

Epigenetics:

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

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

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

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

GeneLoc information about chromosome 11 GeneLoc Exon Structure

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

Start:	111,957,497 bp from pter	End:	111,990,353 bp from pter
Size:	32,857 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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

Secondary accessions: A6ND90 B3KQQ8 Q53XW5 Q6IRW2

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

Explore proteomics data for SDHD at MOPED

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

REFSEQ proteins (4 alternative transcripts):

NP_001263432.1 NP_001263433.1 NP_001263435.1 NP_002993.1

ENSEMBL proteins:

ENSP00000364699 ENSP00000435475 ENSP00000436217 ENSP00000432465 ENSP00000432005

ENSP00000436669 ENSP00000432946 ENSP00000433202

Reactome Protein details: O14521

SDHD Human Recombinant Protein Products:

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	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
	Search eBioscience for Proteins for SDHD
	Search GeneTex for Proteins for SDHD
	antibodies-online proteins for SDHD (4 products)
	antibodies-online peptides for SDHD

SDHD Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of SDHD
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	Novus Biologicals SDHD Antibodies
	Abcam antibodies for SDHD
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SDHD Assay Products:

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	Browse Enzo Life Sciences for kits & assays
	Cloud-Clone Corp. ELISAs for SDHD Cloud-Clone Corp. CLIAs for SDHD
	Search eBioscience for ELISAs for SDHD
	antibodies-online kits for SDHD (8 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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

Find genes that share domains with SDHD About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000104	succinate dehydrogenase activity	IDA	9533030
GO:0009055	electron carrier activity	TAS	9533030
GO:0020037	heme binding	ISS	--
GO:0046872	metal ion binding	IEA	--
GO:0048039	ubiquinone binding	ISS	--

Find genes that share ontologies with SDHD About GenesLikeMe

Phenotypes:
1 GenomeRNAi human phenotype for SDHD:

Increased mitotic index

11 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Sdhd):

behavior/neurological	cardiovascular system	cellular	embryogenesis	endocrine/exocrine gland
growth/size/body	homeostasis/metabolism	mortality/aging	nervous system	normal
tumorigenesis

Find genes that share phenotypes with SDHD About GenesLikeMe

Animal Models:
MGI mouse knock-out Sdhd^tm1Jlob for SDHD

genOway: Develop your customized and physiologically relevant rodent model for SDHD

miRNA Products:		Block miRNA regulation of human, mouse, rat SDHD using miScript Target Protectors
		3 qRT-PCR Assays for microRNAs that regulate SDHD:
		hsa-miR-544 hsa-miR-204 hsa-miR-211
		SwitchGear 3'UTR luciferase reporter plasmid: SDHD 3' UTR sequence

Inhib. RNA Products:		OriGene RNAi products in human, mouse, rat for SDHD
		Predesigned siRNA for gene silencing in human, mouse, rat SDHD

Gene Editing
Products:

DNA2.0 Custom Protein Engineering Service for SDHD

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		GenScript: all cDNA clones in your preferred vector: SDHD (NM_003002)
		Sino Biological Human cDNA Clone for SDHD
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for SDHD
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SDHD

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

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHD

Flow Cytometry
Products:

eBioscience FlowRNA Probe Sets ( VA1-12218) for SDHD

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

DHSD_HUMAN, O14521: Mitochondrion inner membrane; Multi-pass membrane protein

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
mitochondrion	5
extracellular	1
lysosome	1
nucleus	1
plasma membrane	1

About this image

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	TAS	2302193
GO:0005740	mitochondrial envelope	TAS	9533030
GO:0005743	mitochondrial inner membrane	TAS	--
GO:0005749	mitochondrial respiratory chain complex II	ISS	--
GO:0016021	integral component of membrane	IEA	--

Find genes that share ontologies with SDHD About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
About This Section

SuperPaths for SDHD About

See pathways by source

Powered
by

SuperPath

Contained pathways About

Citric acid cycle (TCA cycle)

Citric acid cycle (TCA cycle)	0.55	conversion of glucose to acetyl CoA and entry into the TCA cycle	0.43
Citrate cycle (TCA cycle)	0.55	TCA Cycle	0.00
Pyruvate metabolism and Citric Acid (TCA) cycle	0.49	TCA cycle	0.00

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.

Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	0.81	Oxidative phosphorylation	0.64
Respiratory electron transport	0.81	Parkinson's disease	0.57
Electron Transport Chain	0.75	Huntington's disease	0.45
The citric acid (TCA) cycle and respiratory electron transport	0.71	Non-alcoholic fatty liver disease (NAFLD)	0.41

Metabolism

Metabolism

0.38

Metabolic pathways

0.38

Alzheimer's disease

Alzheimer's disease

0.44

Carbon metabolism

Carbon metabolism

0.38

Find genes that share SuperPaths with SDHD About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

4 BioSystems Pathways for SDHD

	TCA Cycle
	Electron Transport Chain
	TCA cycle
	conversion of glucose to acetyl CoA and entry into the TCA cycle

2 Reactome Pathways for SDHD

	Respiratory electron transport
	Citric acid cycle (TCA cycle)

Selected Kegg Pathways (Kegg details for SDHD) (see all 8):

	Citrate cycle (TCA cycle)
	Oxidative phosphorylation
	Metabolic pathways
	Carbon metabolism
	Non-alcoholic fatty liver disease (NAFLD)

UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521

Pathway: Carbohydrate metabolism; tricarboxylic acid cycle

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

Mitochondrial Energy Metabolism in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Glucose Metabolism in human mouse rat

Interactions:

GeneGlobe Interaction Network for SDHD

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

Selected Interacting proteins for SDHD (O14521³ ENSP00000364699⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 48)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SDHC	Q99643³, ENSP00000356953⁴	I2D: score=2 STRING: ENSP00000356953
SDHA	P31040³, ENSP00000264932⁴	I2D: score=1 STRING: ENSP00000264932
MT-CYB	ENSP00000354554⁴	STRING: ENSP00000354554
SUCLA2	ENSP00000367923⁴	STRING: ENSP00000367923
SUCLG1	ENSP00000377446⁴	STRING: ENSP00000377446

About this table

Gene Ontology (GO): 4 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006099	tricarboxylic acid cycle	TAS	--
GO:0022904	respiratory electron transport chain	TAS	--
GO:0044237	cellular metabolic process	TAS	--
GO:0044281	small molecule metabolic process	TAS	--

Find genes that share ontologies with SDHD About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for SDHD (DHSD)

9 HMDB Compounds for SDHD About this table

Compound	Synonyms	CAS #	PubMed Ids
FAD	1H-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	--
Iron	Armco iron (see all 19)	7439-89-6	--
QH2	CoQH2 (see all 5)	56275-39-9	--
Succinic acid	1,2-Ethanedicarboxylate (see all 11)	110-15-6	--
Sulfide	Sulfide (see all 4)	18496-25-8	--
Ubiquinone Q1	Coenzyme Q (see all 9)	727-81-1	--
Ubiquinone Q2	2-(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

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Succinic acid	1,2-Ethanedicarboxylic acid (see all 8)	110-15-6	target	--	16288654 16374125 15989954 17520677 16405730
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol	--	--	target	--	10592235
Hexachlorophene	--	70-30-4	target	inhibitor	10487417
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)

Find genes that share compounds with SDHD About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
About This Section

REFSEQ mRNAs for SDHD gene (4 alternative transcripts):

NM_001276503.1 NM_001276504.1 NM_001276506.1 NM_003002.3

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000375549(uc001pmz.3) ENST00000528182 ENST00000528048 ENST00000528021

ENST00000526592 ENST00000525291 ENST00000530923 ENST00000534010

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat SDHD
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		Search QuantiFast Probe-based Assays in human, mouse, rat SDHD

Flow Cytometry
Products:

eBioscience FlowRNA Probe Sets ( VA1-12218) for SDHD

Selected AceView cDNA sequences (see all 1371):

BM758814 BQ938179 T24605 AB096252 BG501431 BE252963 AX747181 AA303046

BU660434 AA297523 CA394937 BI868737 BM469844 CD105572 BM818783 BG106140

BC015188 BG741173 CB054053 CB216076 BQ229571 BU732625 CB160539 NM_031938

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

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

About this image

SDHD expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 5) fully expand


Adipose (Muscoskeletal System) fully expand to see all 2 entries
Thoracic Perivascular Adipose

Thymus (Hematopoietic System)
Thymus

Kidney (Urinary System)
Metanephros

Neural Tube (Nervous System)
Metencephalon

Brain (Nervous System)
Medulla Oblongata

SDHD Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

SDHD Protein Expression

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

Mitochondrial Energy Metabolism in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Glucose Metabolism in human mouse rat

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

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SDHD

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

This gene was present in the common ancestor of animals.

Orthologs for SDHD gene from Selected species (see all 13) About this table

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

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
About This Section

Paralogs for SDHD gene

ENSG00000255292²

Find genes that share paralogs with SDHD About GenesLikeMe

Selected 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Valid	Clinical significance	Chr 11 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_010039⁴		Pheochromocytoma (PCC)⁴	--	see VAR_010039	2	D Y	mis⁴		0	--	--	--	--
VAR_010038⁴		Pheochromocytoma (PCC)⁴	--	see VAR_010038	2	P L	mis⁴		0	--	--	--	--
VAR_054385⁴		Paragangliomas 1 (PGL1)⁴	--	see VAR_054385	2	G V	mis⁴		0	--	--	--	--
VAR_017873⁴		Paragangliomas 1 (PGL1)⁴	--	see VAR_017873	2	L P	mis⁴		0	--	--	--	--
VAR_010040⁴		Paragangliomas 1 (PGL1)⁴	--	see VAR_010040	2	H L	mis⁴		0	--	--	--	--
VAR_017872⁴		Paragangliomas 1 (PGL1)⁴	--	see VAR_017872	2	Y C	mis⁴		0	--	--	--	--
rs80338842^1,2	C	pathogenic¹	111821102(+)	`GAGATC/GGCGGT`	11	I M	mis¹		0	--	--	--	--
rs104894310^1,2	C	pathogenic¹	111821113(+)	`TCTCTA/GGAGGC`	11	* W	stg¹		0	--	--	--	--
rs104894309^1,2	C	pathogenic¹	111821132(+)	`GTTTGA/CGGTGC`	9	* C	stg¹		0	--	--	--	--
rs34677591^1,2,,4	C,F	pathogenic¹	111821133(+)	`TTTGCG/AGTGCC`	9	/S /G	mis¹		6		EU 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 ID	Type	Subtype	PubMed ID
esv2745077	CNV	Deletion	23290073

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

Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
About This Section

OMIM gene information: 602690
OMIM disorders: 168000 171300 114900 606864 615106
UniProtKB/Swiss-Prot: DHSD_HUMAN, O14521

Paragangliomas 1 (PGL1) [MIM:168000]: A neural crest tumor usually derived from the chromoreceptor tissue

of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly

benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid

body is the largest of all paraganglia and is also the most common site of the tumors. Note=The disease is caused

by mutations affecting the gene represented in this entry

Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal

medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and

norepinephrine, is hypertension, which may be persistent or intermittent. Note=Disease susceptibility is

associated with variations affecting the gene represented in this entry

Intestinal carcinoid tumor (ICT) [MIM:114900]: A yellow, well-differentiated, circumscribed tumor that

arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the

gastrointestinal tract. Note=Disease susceptibility is associated with variations affecting the gene represented

in this entry

Paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: Gastrointestinal stromal tumors may be

sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with

other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal

stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant

manner, with incomplete penetrance. Note=The disease is caused by mutations affecting the gene represented in

this entry

Cowden syndrome 3 (CWS3) [MIM:615106]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with

age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of

ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair

follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several

types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon

cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but

most commonly in the skin, gastrointestinal tract, breast and thyroid. Note=The disease may be caused by

mutations affecting the gene represented in this entry

Selected diseases for SDHD (see all 28):
About MalaCards

paragangliomas 1 cowden syndrome 3 cerebellopontine angle tumor paraganglioma and gastric stromal sarcoma

carotid body tumor carney triad merkel cell carcinoma phaeochromocytoma

chondroma extra-adrenal pheochromocytoma merkel cell carcinoma, somatic paragangliomas 1, with or without deafness

carcinoid tumors, intestinal sdhd-related paraganglioma and gastric stromal sarcoma pheochromocytoma paraganglioma

hereditary paraganglioma-pheochromocytoma syndromes von hippel-lindau disease neural crest tumor sporadic pheochromocytoma

5 inferred disease relationships from the University of Copenhagen DISEASES database for SDHD:

Paraganglioma Leprosy Phaeochromocytoma Hemangioma

Neurofibromatosis

Find genes that share disorders with SDHD About GenesLikeMe

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

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

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

Export disorders for SDHD gene to outside databases

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

PubMed articles for SDHD gene, integrated from 10 sources (see all 268):
(articles sorted by number of sources associating them with SDHD)

Utopia: connect your pdf to the dynamic
world of online information

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. (PubMed id 15328326)^{1, 2, 4, 9} Neumann H.P.H.... Eng C. (JAMA 2004)
Germ-line mutations in nonsyndromic pheochromocytoma. (PubMed id 12000816)^{1, 2, 4, 9} Neumann H.P.H.... Eng C. (N. Engl. J. Med. 2002)
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. (PubMed id 18678321)^{1, 2, 4} Ni Y.... Eng C. (Am. J. Hum. Genet. 2008)
Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23. (PubMed id 9533030)^{1, 2, 3} Hirawake H.... Kita K. (Cytogenet. Cell Genet. 1997)
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. (PubMed id 11156372)^{1, 2, 9} Gimm O.... Eng C. (Cancer Res. 2000)
Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. (PubMed id 11391796)^{1, 2, 9} Badenhop R.F....Schofield P.R. (Genes Chromosomes Cancer 2001)
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. (PubMed id 10657297)^{1, 2, 9} Baysal B.E.... Devlin B. (Science 2000)
Denaturing high performance liquid chromatography detection of SDHB, SDHD, and VHL germline mutations in pheochromocytoma. (PubMed id 19215943)^{1, 4, 9} Meyer-Rochow G.Y....Benn D.E. (J. Surg. Res. 2009)
Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. (PubMed id 11897817)^{1, 4, 9} Baysal B.E.... Rubinstein W.S. (J. Med. Genet. 2002)
Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma. (PubMed id 17639058)^{1, 4, 9} Korpershoek E....de Krijger R.R. (Endocr. Relat. Cancer 2007)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
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, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and 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/books/NBK1116/?term=SDHD[genesymbol]
Wikipedia	http://en.wikipedia.org/wiki/SDHD
TCA Cycle Gene Mutation Database	http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHD

Intellectual Property for SDHD gene
(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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, GeneTex, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
About This Section

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

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Neuroendocrine Tumors
CARNEY TRIAD
Adenoma Adrenocortical
Genetic Susceptibility
von Hippel-Lindau Disease
NASOPHARYNGEAL CARCINOMA
Glomus Tumor
MEN 2a
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SDHD Gene

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