| 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 |
| |
| Nomenclature |
|---|
| HGNC (Hugo) | SDHD 10683 |
| LRG (Locus Reference Genomic) | LRG_9 |
| Cards |
|---|
| Atlas | SDHDID390 |
| Entrez_Gene (NCBI) | SDHD 6392 succinate dehydrogenase complex subunit D |
| Aliases | CBT1; CII-4; CWS3; PGL; |
| PGL1; QPs3; SDH4; cybS |
| GeneCards (Weizmann) | SDHD |
| Ensembl hg19 (Hinxton) | ENSG00000204370 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000204370 [Gene_View] ENSG00000204370 [Sequence] chr11:112086824-112095801 [Contig_View] SDHD [Vega] |
| ICGC DataPortal | ENSG00000204370 |
| TCGA cBioPortal | SDHD |
| AceView (NCBI) | SDHD |
| Genatlas (Paris) | SDHD |
| WikiGenes | 6392 |
| SOURCE (Princeton) | SDHD |
| Genetics Home Reference (NIH) | SDHD |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | SDHD - chr11:112086824-112095801 + 11q23.1 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | SDHD - 11q23.1 [Description] (hg19-Feb_2009) |
| GoldenPath | SDHD - 11q23.1 [CytoView hg19] SDHD - 11q23.1 [CytoView hg38] |
| ImmunoBase | ENSG00000204370 |
| Mapping of homologs : NCBI | SDHD [Mapview hg19] SDHD [Mapview hg38] |
| OMIM | 168000 171300 252011 602690 606864 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AA374642 AB006202 AI753083 AK075360 BC005263 |
| RefSeq transcript (Entrez) | NM_001276503 NM_001276504 NM_001276506 NM_003002 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | SDHD |
| Alternative Splicing Gallery | ENSG00000204370 |
| Gene Expression | SDHD [ 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] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 6392 |
| GTEX Portal (Tissue expression) | SDHD |
| Human Protein Atlas | ENSG00000204370-SDHD [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | O14521 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | O14521 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | O14521 |
| Splice isoforms : SwissVar | O14521 |
| PhosPhoSitePlus | O14521 |
| Domains : Interpro (EBI) | CybS SQR/QFR_C/D |
| Domain families : Pfam (Sanger) | |
| Domain families : Pfam (NCBI) | |
| Conserved Domain (NCBI) | SDHD |
| DMDM Disease mutations | 6392 |
| Blocks (Seattle) | SDHD |
| Superfamily | O14521 |
| Human Protein Atlas [tissue] | ENSG00000204370-SDHD [tissue] |
| Peptide Atlas | O14521 |
| HPRD | 04069 |
| IPI | IPI00297325 IPI00980617 IPI00976555 IPI00976063 IPI00978980 IPI00985489 IPI00977732 IPI00977213 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | O14521 |
| IntAct (EBI) | O14521 |
| FunCoup | ENSG00000204370 |
| BioGRID | SDHD |
| STRING (EMBL) | SDHD |
| ZODIAC | SDHD |
| Ontologies - Pathways |
|---|
| QuickGO | O14521 |
| Ontology : AmiGO | succinate dehydrogenase activity mitochondrion mitochondrial envelope mitochondrial inner membrane mitochondrial inner membrane mitochondrial inner membrane mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) tricarboxylic acid cycle tricarboxylic acid cycle tricarboxylic acid cycle tricarboxylic acid cycle mitochondrial electron transport, succinate to ubiquinone succinate dehydrogenase (ubiquinone) activity electron transfer activity integral component of membrane heme binding heme binding metal ion binding ubiquinone binding ubiquinone binding |
| Ontology : EGO-EBI | succinate dehydrogenase activity mitochondrion mitochondrial envelope mitochondrial inner membrane mitochondrial inner membrane mitochondrial inner membrane mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) tricarboxylic acid cycle tricarboxylic acid cycle tricarboxylic acid cycle tricarboxylic acid cycle mitochondrial electron transport, succinate to ubiquinone succinate dehydrogenase (ubiquinone) activity electron transfer activity integral component of membrane heme binding heme binding metal ion binding ubiquinone binding ubiquinone binding |
| Pathways : KEGG | Citrate cycle (TCA cycle) Oxidative phosphorylation Non-alcoholic fatty liver disease (NAFLD) Alzheimer's disease Parkinson's disease Huntington's disease |
| REACTOME | O14521 [protein] |
| REACTOME Pathways | R-HSA-71403 [pathway] |
| NDEx Network | SDHD |
| Atlas of Cancer Signalling Network | SDHD |
| Wikipedia pathways | SDHD |
| Orthology - Evolution |
|---|
| OrthoDB | 6392 |
| GeneTree (enSembl) | ENSG00000204370 |
| Phylogenetic Trees/Animal Genes : TreeFam | SDHD |
| HOGENOM | O14521 |
| Homologs : HomoloGene | SDHD |
| Homology/Alignments : Family Browser (UCSC) | SDHD |
| Gene fusions - Rearrangements |
|---|
| Fusion : FusionGDB | 32985 |
| Fusion : Fusion_Hub | SDHD--DLAT SDHD--NUMA1 SDHD--PDGFD SDHD--TEX12 SDHD--XIRP2 SIK3--SDHD ZBTB16--SDHD |
| Fusion : Quiver | SDHD |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | SDHD [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | SDHD |
| dbVar | SDHD |
| ClinVar | SDHD |
| 1000_Genomes | SDHD |
| Exome Variant Server | SDHD |
| ExAC (Exome Aggregation Consortium) | ENSG00000204370 |
| GNOMAD Browser | ENSG00000204370 |
| Varsome Browser | SDHD |
| Genetic variants : HAPMAP | 6392 |
| Genomic Variants (DGV) | SDHD [DGVbeta] |
| DECIPHER | SDHD [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | SDHD |
| Mutations |
|---|
| ICGC Data Portal | SDHD |
| TCGA Data Portal | SDHD |
| Broad Tumor Portal | SDHD |
| OASIS Portal | SDHD [ Somatic mutations - Copy number] |
| Somatic Mutations in Cancer : COSMIC | SDHD [overview] [genome browser] [tissue] [distribution] |
| Somatic Mutations in Cancer : COSMIC3D | SDHD |
| Mutations and Diseases : HGMD | SDHD |
| LOVD (Leiden Open Variation Database) | TCA Cycle Gene Mutation Database |
| BioMuta | search 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) |
| intoGen | SDHD |
| NCG5 (London) | SDHD |
| Cancer3D | SDHD(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 168000 171300 252011 602690 606864 |
| Orphanet | 243 3377 8775 12880 14665 |
| DisGeNET | SDHD |
| Medgen | SDHD |
| Genetic Testing Registry | SDHD
|
| NextProt | O14521 [Medical] |
| TSGene | 6392 |
| GENETests | SDHD |
| Target Validation | SDHD |
| Huge Navigator |
SDHD [HugePedia] |
| snp3D : Map Gene to Disease | 6392 |
| BioCentury BCIQ | SDHD |
| ClinGen | SDHD (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 6392 |
| Chemical/Pharm GKB Gene | PA35608 |
| Clinical trial | SDHD |
| Miscellaneous |
|---|
| canSAR (ICR) | SDHD (select the gene name) |
| DataMed Index | SDHD |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 153 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | SDHD |
| EVEX | SDHD |
| GoPubMed | SDHD |
| iHOP | SDHD |
