| Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. |
| Astuti D, Latif F, Dallol A, Dahia PL, Douglas F, George E, Sköldberg F, Husebye ES, Eng C, Maher ER |
| American journal of human genetics. 2001 ; 69 (1) : 49-54. |
| PMID 11404820 |
| |
| Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase. |
| Au HC, Ream-Robinson D, Bellew LA, Broomfield PL, Saghbini M, Scheffler IE |
| Gene. 1995 ; 159 (2) : 249-253. |
| PMID 7622059 |
| |
| Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. |
| Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, Ferrell RE, Rubinstein WS |
| Journal of medical genetics. 2002 ; 39 (3) : 178-183. |
| PMID 11897817 |
| |
| RASSF1A is part of a complex similar to the Drosophila Hippo/Salvador/Lats tumor-suppressor network. |
| Guo C, Tommasi S, Liu L, Yee JK, Dammann R, Pfeifer GP |
| Current biology : CB. 2007 ; 17 (8) : 700-705. |
| PMID 17379520 |
| |
| The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps to human chromosome 1p35-36.1. |
| Leckschat S, Ream-Robinson D, Scheffler IE |
| Somatic cell and molecular genetics. 1993 ; 19 (5) : 505-511. |
| PMID 8291026 |
| |
| Nomenclature |
|---|
| HGNC (Hugo) | SDHB 10681 |
| LRG (Locus Reference Genomic) | LRG_316 |
| Cards |
|---|
| Atlas | SDHBID388 |
| Entrez_Gene (NCBI) | SDHB 6390 succinate dehydrogenase complex iron sulfur subunit B |
| Aliases | CWS2; IP; PGL4; SDH; |
| SDH1; SDH2; SDHIP |
| GeneCards (Weizmann) | SDHB |
| Ensembl hg19 (Hinxton) | ENSG00000117118 [Gene_View] |
| Ensembl hg38 (Hinxton) | ENSG00000117118 [Gene_View] ENSG00000117118 [Sequence] chr1:17018726-17054170 [Contig_View] SDHB [Vega] |
| ICGC DataPortal | ENSG00000117118 |
| TCGA cBioPortal | SDHB |
| AceView (NCBI) | SDHB |
| Genatlas (Paris) | SDHB |
| WikiGenes | 6390 |
| SOURCE (Princeton) | SDHB |
| Genetics Home Reference (NIH) | SDHB |
| Genomic and cartography |
|---|
| GoldenPath hg38 (UCSC) | SDHB - chr1:17018726-17054170 - 1p36.13 [Description] (hg38-Dec_2013) |
| GoldenPath hg19 (UCSC) | SDHB - 1p36.13 [Description] (hg19-Feb_2009) |
| Ensembl | SDHB - 1p36.13 [CytoView hg19] SDHB - 1p36.13 [CytoView hg38] |
| Mapping of homologs : NCBI | SDHB [Mapview hg19] SDHB [Mapview hg38] |
| OMIM | 115310 171300 185470 606764 606864 612359 |
| Gene and transcription |
|---|
| Genbank (Entrez) | AK312056 BC007840 BF796275 BU554163 D10245 |
| RefSeq transcript (Entrez) | NM_003000 |
| RefSeq genomic (Entrez) | |
| Consensus coding sequences : CCDS (NCBI) | SDHB |
| Cluster EST : Unigene | Hs.465924 [ NCBI ] |
| CGAP (NCI) | Hs.465924 |
| Alternative Splicing Gallery | ENSG00000117118 |
| Gene Expression | SDHB [ NCBI-GEO ] SDHB [ EBI - ARRAY_EXPRESS ]
SDHB [ SEEK ] SDHB [ MEM ] |
| Gene Expression Viewer (FireBrowse) | SDHB [ Firebrowse - Broad ] |
| SOURCE (Princeton) | Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60] |
| Genevestigator | Expression in : [tissues] [cell-lines] [cancer] [perturbations] |
| BioGPS (Tissue expression) | 6390 |
| GTEX Portal (Tissue expression) | SDHB |
| Human Protein Atlas | ENSG00000117118-SDHB [pathology] [cell] [tissue] |
| Protein : pattern, domain, 3D structure |
|---|
| UniProt/SwissProt | P21912 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction] |
| NextProt | P21912 [Sequence] [Exons] [Medical] [Publications] |
| With graphics : InterPro | P21912 |
| Splice isoforms : SwissVar | P21912 |
| Catalytic activity : Enzyme | 1.3.5.1 [ Enzyme-Expasy ] 1.3.5.11.3.5.1 [ IntEnz-EBI ] 1.3.5.1 [ BRENDA ] 1.3.5.1 [ KEGG ] |
| PhosPhoSitePlus | P21912 |
| Domaine pattern : Prosite (Expaxy) | 2FE2S_FER_1 (PS00197) 2FE2S_FER_2 (PS51085) 4FE4S_FER_1 (PS00198) 4FE4S_FER_2 (PS51379) |
| Domains : Interpro (EBI) | 2Fe-2S_ferredoxin-like_sf 2Fe-2S_ferredoxin-type 2Fe2S_fd_BS 4Fe4S_Fe-S-bd 4Fe4S_Fe_S_CS Beta-grasp_dom_sf Helical_ferredxn Succ_DH/fum_Rdtase_Fe-S Succ_DH/fum_Rdtase_N |
| Domain families : Pfam (Sanger) | Fer2_3 (PF13085) |
| Domain families : Pfam (NCBI) | pfam13085 |
| Conserved Domain (NCBI) | SDHB |
| DMDM Disease mutations | 6390 |
| Blocks (Seattle) | SDHB |
| Superfamily | P21912 |
| Human Protein Atlas [tissue] | ENSG00000117118-SDHB [tissue] |
| Peptide Atlas | P21912 |
| HPRD | 01707 |
| IPI | IPI00294911 |
| Protein Interaction databases |
|---|
| DIP (DOE-UCLA) | P21912 |
| IntAct (EBI) | P21912 |
| FunCoup | ENSG00000117118 |
| BioGRID | SDHB |
| STRING (EMBL) | SDHB |
| ZODIAC | SDHB |
| Ontologies - Pathways |
|---|
| QuickGO | P21912 |
| Ontology : AmiGO | protein binding nucleoplasm mitochondrion mitochondrial inner membrane mitochondrial inner membrane mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) plasma membrane tricarboxylic acid cycle succinate metabolic process succinate dehydrogenase (ubiquinone) activity electron transfer activity aerobic respiration aerobic respiration respiratory electron transport chain mitochondrial membrane metal ion binding ubiquinone binding 2 iron, 2 sulfur cluster binding 3 iron, 4 sulfur cluster binding 4 iron, 4 sulfur cluster binding |
| Ontology : EGO-EBI | protein binding nucleoplasm mitochondrion mitochondrial inner membrane mitochondrial inner membrane mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone) plasma membrane tricarboxylic acid cycle succinate metabolic process succinate dehydrogenase (ubiquinone) activity electron transfer activity aerobic respiration aerobic respiration respiratory electron transport chain mitochondrial membrane metal ion binding ubiquinone binding 2 iron, 2 sulfur cluster binding 3 iron, 4 sulfur cluster binding 4 iron, 4 sulfur cluster 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 | P21912 [protein] |
| REACTOME Pathways | R-HSA-71403 [pathway] |
| NDEx Network | SDHB |
| Atlas of Cancer Signalling Network | SDHB |
| Wikipedia pathways | SDHB |
| Orthology - Evolution |
|---|
| OrthoDB | 6390 |
| GeneTree (enSembl) | ENSG00000117118 |
| Phylogenetic Trees/Animal Genes : TreeFam | SDHB |
| HOVERGEN | P21912 |
| HOGENOM | P21912 |
| Homologs : HomoloGene | SDHB |
| Homology/Alignments : Family Browser (UCSC) | SDHB |
| Gene fusions - Rearrangements |
|---|
| Fusion : Mitelman | SDHB/PLN [1p36.13/6q22.31] |
| Fusion Portal | SDHB 1p36.13 PLN 6q22.31 LUAD |
| Fusion : Quiver | SDHB |
| Polymorphisms : SNP and Copy number variants |
|---|
| NCBI Variation Viewer | SDHB [hg38] |
| dbSNP Single Nucleotide Polymorphism (NCBI) | SDHB |
| dbVar | SDHB |
| ClinVar | SDHB |
| 1000_Genomes | SDHB |
| Exome Variant Server | SDHB |
| ExAC (Exome Aggregation Consortium) | ENSG00000117118 |
| GNOMAD Browser | ENSG00000117118 |
| Varsome Browser | SDHB |
| Genetic variants : HAPMAP | 6390 |
| Genomic Variants (DGV) | SDHB [DGVbeta] |
| DECIPHER | SDHB [patients] [syndromes] [variants] [genes] |
| CONAN: Copy Number Analysis | SDHB |
| Mutations |
|---|
| ICGC Data Portal | SDHB |
| TCGA Data Portal | SDHB |
| Broad Tumor Portal | SDHB |
| OASIS Portal | SDHB [ Somatic mutations - Copy number] |
| Cancer Gene: Census | SDHB |
| Somatic Mutations in Cancer : COSMIC | SDHB [overview] [genome browser] [tissue] [distribution] |
| Mutations and Diseases : HGMD | SDHB |
| 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 |
| BioMuta | search SDHB |
| DgiDB (Drug Gene Interaction Database) | SDHB |
| DoCM (Curated mutations) | SDHB (select the gene name) |
| CIViC (Clinical Interpretations of Variants in Cancer) | SDHB (select a term) |
| intoGen | SDHB |
| NCG5 (London) | SDHB |
| Cancer3D | SDHB(select the gene name) |
| Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
|---|
| OMIM | 115310 171300 185470 606764 606864 612359 |
| Orphanet | 243 3377 8775 10584 12880 |
| DisGeNET | SDHB |
| Medgen | SDHB |
| Genetic Testing Registry | SDHB
|
| NextProt | P21912 [Medical] |
| TSGene | 6390 |
| GENETests | SDHB |
| Target Validation | SDHB |
| Huge Navigator |
SDHB [HugePedia] |
| snp3D : Map Gene to Disease | 6390 |
| BioCentury BCIQ | SDHB |
| ClinGen | SDHB (curated) |
| Clinical trials, drugs, therapy |
|---|
| Chemical/Protein Interactions : CTD | 6390 |
| Chemical/Pharm GKB Gene | PA35606 |
| Clinical trial | SDHB |
| Miscellaneous |
|---|
| canSAR (ICR) | SDHB (select the gene name) |
| Probes |
|---|
| Litterature |
|---|
| PubMed | 210 Pubmed reference(s) in Entrez |
| GeneRIFs | Gene References Into Functions (Entrez) |
| CoreMine | SDHB |
| EVEX | SDHB |
| GoPubMed | SDHB |
| iHOP | SDHB |
