Alias (NCBI) | SDH1 (succinate dehydrogenase 1) |
HGNC (Hugo) |
SDHB |
HGNC Alias name | iron-sulfur subunit of complex II |
| succinate dehydrogenase [ubiquinone] iron-sulfur subunit |
HGNC Previous name | SDH1 |
| SDH |
HGNC Previous name | "succinate dehydrogenase complex, subunit B, iron sulfur (Ip) |
| succinate dehydrogenase complex subunit B, iron sulfur (Ip)" |
LocusID (NCBI) |
6390 |
Atlas_Id |
388 |
Location |
1p36.13 [Link to chromosome band 1p36] |
Location_base_pair |
Starts at 17018726 and ends at 17054032 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping SDHB.png] |
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| Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics |
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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 |
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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 |
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| Nomenclature |
HGNC (Hugo) | SDHB 10681 |
LRG (Locus Reference Genomic) | LRG_316 |
| Cards |
Atlas | SDHBID388 |
Entrez_Gene (NCBI) | SDHB 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] chr1:17018726-17054032 [Contig_View] SDHB [Vega] |
ICGC DataPortal | ENSG00000117118 |
TCGA cBioPortal | SDHB |
AceView (NCBI) | SDHB |
Genatlas (Paris) | SDHB |
SOURCE (Princeton) | SDHB |
Genetics Home Reference (NIH) | SDHB |
| Genomic and cartography |
GoldenPath hg38 (UCSC) | SDHB - chr1:17018726-17054032 - 1p36.13 [Description] (hg38-Dec_2013) |
GoldenPath hg19 (UCSC) | SDHB - 1p36.13 [Description] (hg19-Feb_2009) |
GoldenPath | SDHB - 1p36.13 [CytoView hg19] SDHB - 1p36.13 [CytoView hg38] |
ImmunoBase | ENSG00000117118 |
genome Data Viewer NCBI | SDHB [Mapview hg19] |
OMIM | 115310 171300 185470 606764 606864 |
| Gene and transcription |
Genbank (Entrez) | AK312056 BC007840 BF796275 BU554163 D10245 |
RefSeq transcript (Entrez) | NM_003000 |
RefSeq genomic (Entrez) | |
Consensus coding sequences : CCDS (NCBI) | SDHB |
Alternative Splicing Gallery | ENSG00000117118 |
Gene Expression | SDHB [ NCBI-GEO ] SDHB [ EBI - ARRAY_EXPRESS ]
SDHB [ SEEK ] SDHB [ MEM ] |
Gene Expression Viewer (FireBrowse) | SDHB [ Firebrowse - Broad ] |
Genevisible | Expression of SDHB 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 ] [ MEROPS ] |
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 |
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 |
Complex Portal (EBI) | P21912 CPX-561 Mitochondrial respiratory chain complex II |
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 tricarboxylic acid cycle succinate metabolic process succinate dehydrogenase (ubiquinone) activity electron transfer activity 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 tricarboxylic acid cycle succinate metabolic process succinate dehydrogenase (ubiquinone) activity electron transfer activity 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 |
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 : FusionGDB | 1.3.99.1 |
Fusion : Fusion_Hub | ADNP2--SDHB ARHGEF10L--SDHB CSDE1--SDHB FOXK1--SDHB HDLBP--SDHB INPP1--SDHB KCTD19--SDHB MALT1--SDHB OSBPL5--SDHB SDHB--BCL2L2-PABPN1 SDHB--DICER1 SDHB--MALT1 SDHB--MST1P9 SDHB--NARG2 SDHB--PLN |
| SDHB--PRKAR1A SDHB--SDHB SDHB--SND1 SRSF11--SDHB TEF--SDHB TIAL1--SDHB TMEM14B--SDHB UBE4B--SDHB UNK--SDHB VSIG10--SDHB |
Fusion : Quiver | SDHB |
| Polymorphisms : SNP and Copy number variants |
NCBI Variation Viewer | SDHB [hg38] |
dbVar | SDHB |
ClinVar | SDHB |
Monarch | SDHB |
1000_Genomes | SDHB |
Exome Variant Server | SDHB |
GNOMAD Browser | ENSG00000117118 |
Varsome Browser | SDHB |
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] |
Somatic Mutations in Cancer : COSMIC3D | SDHB |
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 |
OncoKB | SDHB |
NCG6 (London) | select SDHB |
Cancer3D | SDHB(select the gene name) |
Impact of mutations | [PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser] |
| Diseases |
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OMIM | 115310 171300 185470 606764 606864 |
Orphanet | 243 3377 8775 10584 12880 |
DisGeNET | SDHB |
Medgen | SDHB |
Genetic Testing Registry | SDHB
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NextProt | P21912 [Medical] |
GENETests | SDHB |
Target Validation | SDHB |
Huge Navigator |
SDHB [HugePedia] |
ClinGen | SDHB (curated) |
| Clinical trials, drugs, therapy |
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MyCancerGenome | SDHB |
Protein Interactions : CTD | |
Pharm GKB Gene | PA35606 |
Pharos | P21912 |
Clinical trial | SDHB |
| Miscellaneous |
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canSAR (ICR) | SDHB (select the gene name) |
Harmonizome | SDHB |
DataMed Index | SDHB |
| Probes |
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| Litterature |
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PubMed | 241 Pubmed reference(s) in Entrez |
GeneRIFs | Gene References Into Functions (Entrez) |
EVEX | SDHB |