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SDHD (succinate dehydrogenase complex II, subunit D, integral membrane protein)

Written2002-02Anne-Paule Gimenez-Roqueplo
Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20-40, rue Leblanc, 75908 Paris cedex 15, France

(Note : for Links provided by Atlas : click)


Other namesSDH4 (succinate dehydrogenase 4)
LocusID (NCBI) 6392
Atlas_Id 390
Location 11q23.1  [Link to chromosome band 11q23]
Location_base_pair Starts at 111957548 and ends at 111966525 bp from pter ( according to hg19-Feb_2009)  [Mapping SDHD.png]
Fusion genes
(updated 2016)
SDHD (11q23.1) / DLAT (11q23.1)SDHD (11q23.1) / XIRP2 (2q24.3)


Description 8895 bp, 4 exons
Transcription A non transcribed sequence highly homologous to SDHD cDNA is present on chromosome 1p36-p34


Description 159 amino acids and 17 kDa
Expression widely expressed
Localisation mitochondrial inner membrane
Function Complex II (succinate-ubiquinone oxidoreductase) of the respiratory chain is involved in the oxidation of succinate, carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. The subunit D protein or small subunit (cybS) is one of two integral membrane proteins anchoring the complex to membrane.
Homology The complex II includes SDHC (cybL) and SDHB (iron-sulfur protein) which are also implicated in paragangliomas and pheochromocytomas.


Germinal Germline mutations cause hereditary paraganglioma. Different types of mutations are described. False-sense mutations, insertions and deletions leading to protein truncation and missense mutations.
Somatic Loss of wild type allele in tumor DNA is usually observed.

Implicated in

Entity Hereditary paraganglioma type 1 (also called familial non chromaffin paragangliomas 1, or familial glomus tumor)
Disease Hereditary paraganglioma type 1 (PGL1) is a rare autosomal dominant disorder. The disease is transmitted through fathers and no disease phenotype is transmetted maternally in accordance with a maternal genomic imprinting. Paragangliomas are slow growing highly vascular tumor, usually benign, derived from crest-neural cells. They are preferentially located in the neck (carotid body and glomus vagal) and head (glomus jugulare and tympanicum). They may be associated with pheochromocytomas.
Prognosis It depends on extent of the disease at the time of diagnosis.


Germline SDHD mutation in familial phaeochromocytoma.
Astuti D, Douglas F, Lennard TW, Aligianis IA, Woodward ER, Evans DG, Eng C, Latif F, Maher ER
Lancet. 2001 ; 357 (9263) : 1181-1182.
PMID 11323050
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.
Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P, Devlin B
Science (New York, N.Y.). 2000 ; 287 (5454) : 848-851.
PMID 10657297
A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region.
Baysal BE, Willett-Brozick JE, Taschner PE, Dauwerse JG, Devilee P, Devlin B
European journal of human genetics : EJHG. 2001 ; 9 (2) : 121-129.
PMID 11313745
The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.
Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, Rötig A, Jeunemaitre X
American journal of human genetics. 2001 ; 69 (6) : 1186-1197.
PMID 11605159
Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.
Gimm O, Armanios M, Dziema H, Neumann HP, Eng C
Cancer research. 2000 ; 60 (24) : 6822-6825.
PMID 11156372
Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase.
Hirawake H, Taniwaki M, Tamura A, Amino H, Tomitsuka E, Kita K
Biochimica et biophysica acta. 1999 ; 1412 (3) : 295-300.
PMID 10482792
Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.
Milunsky JM, Maher TA, Michels VV, Milunsky A
American journal of medical genetics. 2001 ; 100 (4) : 311-314.
PMID 11343322
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.
Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Bröcker-Vriends AH, van Der Mey AG, van Ommen GJ, Cornelisse CJ, Devilee P
Genes, chromosomes & cancer. 2001 ; 31 (3) : 274-281.
PMID 11391798


This paper should be referenced as such :
Gimenez-Roqueplo, AP
SDHD (succinate dehydrogenase complex II, subunit D, integral membrane protein)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):115-116.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2+1 ]
  Neuro-Endocrine/Endocrine System: Carcinoid tumors
Head and Neck: Paraganglioma: an overview
Neuro-Endocrine/Endocrine System: Phaeochromocytoma

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 3 ]
  Cowden disease Familial nervous system tumour syndromes Hereditary paraganglioma (PGL)

External links

HGNC (Hugo)SDHD   10683
Entrez_Gene (NCBI)SDHD  6392  succinate dehydrogenase complex subunit D
AliasesCBT1; CII-4; CWS3; PGL; 
PGL1; QPs3; SDH4; cybS
GeneCards (Weizmann)SDHD
Ensembl hg19 (Hinxton)ENSG00000204370 [Gene_View]  chr11:111957548-111966525 [Contig_View]  SDHD [Vega]
Ensembl hg38 (Hinxton)ENSG00000204370 [Gene_View]  chr11:111957548-111966525 [Contig_View]  SDHD [Vega]
ICGC DataPortalENSG00000204370
Genatlas (Paris)SDHD
SOURCE (Princeton)SDHD
Genetics Home Reference (NIH)SDHD
Genomic and cartography
GoldenPath hg19 (UCSC)SDHD  -     chr11:111957548-111966525 +  11q23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SDHD  -     11q23   [Description]    (hg38-Dec_2013)
EnsemblSDHD - 11q23 [CytoView hg19]  SDHD - 11q23 [CytoView hg38]
Mapping of homologs : NCBISDHD [Mapview hg19]  SDHD [Mapview hg38]
OMIM114900   168000   171300   602690   606864   615106   
Gene and transcription
Genbank (Entrez)AA374642 AB006202 AI753083 AK075360 BC005263
RefSeq transcript (Entrez)NM_001276503 NM_001276504 NM_001276506 NM_003002
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_012337 NT_033899 NW_004929381
Consensus coding sequences : CCDS (NCBI)SDHD
Cluster EST : UnigeneHs.744039 [ NCBI ]
CGAP (NCI)Hs.744039
Alternative Splicing GalleryENSG00000204370
Gene ExpressionSDHD [ NCBI-GEO ]   SDHD [ EBI - ARRAY_EXPRESS ]   SDHD [ SEEK ]   SDHD [ MEM ]
Gene Expression Viewer (FireBrowse)SDHD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6392
GTEX Portal (Tissue expression)SDHD
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14521 (Uniprot)
NextProtO14521  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14521
Splice isoforms : SwissVarO14521 (Swissvar)
Domains : Interpro (EBI)CybS   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
DMDM Disease mutations6392
Blocks (Seattle)SDHD
Human Protein AtlasENSG00000204370
Peptide AtlasO14521
IPIIPI00297325   IPI00980617   IPI00976555   IPI00976063   IPI00978980   IPI00985489   IPI00977732   IPI00977213   
Protein Interaction databases
IntAct (EBI)O14521
Ontologies - Pathways
Ontology : AmiGOsuccinate dehydrogenase activity  mitochondrion  mitochondrial envelope  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)  tricarboxylic acid cycle  tricarboxylic acid cycle  tricarboxylic acid cycle  electron carrier activity  integral component of membrane  heme binding  metal ion binding  ubiquinone binding  
Ontology : EGO-EBIsuccinate dehydrogenase activity  mitochondrion  mitochondrial envelope  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)  tricarboxylic acid cycle  tricarboxylic acid cycle  tricarboxylic acid cycle  electron carrier activity  integral component of membrane  heme binding  metal ion binding  ubiquinone binding  
Pathways : BIOCARTAElectron Transport Reaction in Mitochondria [Genes]   
Pathways : KEGGCitrate cycle (TCA cycle)    Oxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
REACTOMEO14521 [protein]
REACTOME PathwaysR-HSA-611105 Respiratory electron transport [pathway]
REACTOME PathwaysR-HSA-71403 Citric acid cycle (TCA cycle) [pathway]
NDEx NetworkSDHD
Atlas of Cancer Signalling NetworkSDHD
Wikipedia pathwaysSDHD
Orthology - Evolution
GeneTree (enSembl)ENSG00000204370
Phylogenetic Trees/Animal Genes : TreeFamSDHD
Homologs : HomoloGeneSDHD
Homology/Alignments : Family Browser (UCSC)SDHD
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSDHD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SDHD
Exome Variant ServerSDHD
ExAC (Exome Aggregation Consortium)SDHD (select the gene name)
Genetic variants : HAPMAP6392
Genomic Variants (DGV)SDHD [DGVbeta]
DECIPHER (Syndromes)11:111957548-111966525  ENSG00000204370
CONAN: Copy Number AnalysisSDHD 
ICGC Data PortalSDHD 
TCGA Data PortalSDHD 
Broad Tumor PortalSDHD
OASIS PortalSDHD [ Somatic mutations - Copy number]
Cancer Gene: CensusSDHD 
Somatic Mutations in Cancer : COSMICSDHD 
Mutations and Diseases : HGMDSDHD
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
LOVD (Leiden Open Variation Database)TCA Cycle Gene Mutation Database
BioMutasearch SDHD
DgiDB (Drug Gene Interaction Database)SDHD
DoCM (Curated mutations)SDHD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SDHD (select a term)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
OMIM114900    168000    171300    602690    606864    615106   
Orphanet243    3377    8775    12880    14665   
Genetic Testing Registry SDHD
NextProtO14521 [Medical]
Huge Navigator SDHD [HugePedia]
snp3D : Map Gene to Disease6392
ClinGenSDHD (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6392
Chemical/Pharm GKB GenePA35608
Clinical trialSDHD
canSAR (ICR)SDHD (select the gene name)
PubMed126 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 10 11:36:25 CEST 2016

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