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SDHB (succinate dehydrogenase complex II, subunit B, iron-sulfur protein or IP)

Written2002-04Anne-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)

Identity

Alias (NCBI)SDH1 (succinate dehydrogenase 1)
HGNC (Hugo) SDHB
HGNC Alias nameiron-sulfur subunit of complex II
 succinate dehydrogenase [ubiquinone] iron-sulfur subunit
HGNC Previous nameSDH1
 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]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
FOXK1 (7p22.1) / SDHB (1p36.13)SDHB (1p36.13) / CAT (11p13)SDHB (1p36.13) / PLN (6q22.31)
SDHB (1p36.13) / SDHB (1p36.13)

DNA/RNA

Description 1123 bp, 8 exons

Protein

Description 280 amino acids and 31 kDa
Expression widely expressed
Localisation mitochondrial inner membrane
Function The complex II (succinate-ubiquinone oxidoreductase) is un key component of the mitochondrial respiratory chain and the tricarboxylic acid cycle. It is involved in the oxidation of succinate (succinate + ubiquinone = fumarate + ubiquinol) and carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. The subunit B protein or iron-sulfur protein, which binds three different iron-sulfur clusters, is directly involved in the catalytic activity of succinate dehydrogenase.
Homology The complex II includes SDHD (cybS) and SDHC (cybL) which are also implicated in paragangliomas and pheochromocytomas.

Mutations

Germinal Germline mutations cause hereditary paraganglioma, non-familial paraganglioma, familial and sporadic pheochromocytomas. Different germline mutations have been reported: i) a nonsense mutation (R90X) in a family with cervical paraganglioma and ectopic pheochromocytoma, ii) a missense mutation (P197R) in a family with extraadrenal pheochromocytoma and a 1bp deletion in a sporadic pheochromocytoma, iii) a missense (P131R) mutation and 1 bp insertion (M71fsX80) in familial paraganglioma and a nonsense mutation (Q59X) in sporadic paraganglioma.
Somatic Loss of wild type allele in tumor DNA is usually observed.

Implicated in

Note
  
Entity Hereditary paraganglioma type 4
Note Alias: Familial non chromaffin paragangliomas 4; Familial glomus tumor; Familial and sporadic pheochromocytoma
Disease Hereditary paraganglioma type 4 (PGL4) is a rare autosomal dominant disorder non maternally imprinted. Paragangliomas are slow growing highly vascular tumor, usually benigns, 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 adrenal or extraadrenal pheochromocytomas which produce catecholamines.
Prognosis It depends on extent of the disease at the time of diagnosis.
  

Bibliography

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
 

Citation

This paper should be referenced as such :
Gimenez-Roqueplo, AP
SDHB (succinate dehydrogenase complex II, subunit B, iron-sulfur protein or IP)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):202-203.
Free journal version : [ pdf ]   [ DOI ]


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 4 ]
  Head and Neck: Paraganglioma: an overview
Neuro-Endocrine/Endocrine system: Phaeochromocytoma
Kidney: Succinate dehydrogenase-deficient renal cell carcinoma
t(1;6)(p36;q22) SDHB/PLN


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 4 ]
  Cowden disease Familial nervous system tumour syndromes Familial /sporadic gastrointestinal stromal tumors (GISTs) Hereditary paraganglioma (PGL)


External links

Nomenclature
HGNC (Hugo)SDHB   10681
LRG (Locus Reference Genomic)LRG_316
Cards
AtlasSDHBID388
Entrez_Gene (NCBI)SDHB    succinate dehydrogenase complex iron sulfur subunit B
AliasesCWS2; 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 DataPortalENSG00000117118
TCGA cBioPortalSDHB
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)
GoldenPathSDHB - 1p36.13 [CytoView hg19]  SDHB - 1p36.13 [CytoView hg38]
ImmunoBaseENSG00000117118
genome Data Viewer NCBISDHB [Mapview hg19]  
OMIM115310   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 GalleryENSG00000117118
Gene ExpressionSDHB [ NCBI-GEO ]   SDHB [ EBI - ARRAY_EXPRESS ]   SDHB [ SEEK ]   SDHB [ MEM ]
Gene Expression Viewer (FireBrowse)SDHB [ Firebrowse - Broad ]
GenevisibleExpression of SDHB in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6390
GTEX Portal (Tissue expression)SDHB
Human Protein AtlasENSG00000117118-SDHB [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21912   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21912  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21912
Splice isoforms : SwissVarP21912
Catalytic activity : Enzyme1.3.5.1 [ Enzyme-Expasy ]   1.3.5.11.3.5.1 [ IntEnz-EBI ]   1.3.5.1 [ BRENDA ]   1.3.5.1 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP21912
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
SuperfamilyP21912
Human Protein Atlas [tissue]ENSG00000117118-SDHB [tissue]
Peptide AtlasP21912
HPRD01707
IPIIPI00294911   
Protein Interaction databases
DIP (DOE-UCLA)P21912
IntAct (EBI)P21912
Complex Portal (EBI)P21912 CPX-561 Mitochondrial respiratory chain complex II
BioGRIDSDHB
STRING (EMBL)SDHB
ZODIACSDHB
Ontologies - Pathways
QuickGOP21912
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 : KEGGCitrate cycle (TCA cycle)    Oxidative phosphorylation    Non-alcoholic fatty liver disease (NAFLD)    Alzheimer's disease    Parkinson's disease    Huntington's disease   
REACTOMEP21912 [protein]
REACTOME PathwaysR-HSA-71403 [pathway]   
NDEx NetworkSDHB
Atlas of Cancer Signalling NetworkSDHB
Wikipedia pathwaysSDHB
Orthology - Evolution
OrthoDB6390
GeneTree (enSembl)ENSG00000117118
Phylogenetic Trees/Animal Genes : TreeFamSDHB
HOGENOMP21912
Homologs : HomoloGeneSDHB
Homology/Alignments : Family Browser (UCSC)SDHB
Gene fusions - Rearrangements
Fusion : MitelmanSDHB/PLN [1p36.13/6q22.31]  
Fusion PortalSDHB 1p36.13 PLN 6q22.31 LUAD
Fusion : FusionGDB1.3.99.1   
Fusion : Fusion_HubADNP2--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 : QuiverSDHB
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSDHB [hg38]
dbVarSDHB
ClinVarSDHB
MonarchSDHB
1000_GenomesSDHB 
Exome Variant ServerSDHB
GNOMAD BrowserENSG00000117118
Varsome BrowserSDHB
Genomic Variants (DGV)SDHB [DGVbeta]
DECIPHERSDHB [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSDHB 
Mutations
ICGC Data PortalSDHB 
TCGA Data PortalSDHB 
Broad Tumor PortalSDHB
OASIS PortalSDHB [ Somatic mutations - Copy number]
Cancer Gene: CensusSDHB 
Somatic Mutations in Cancer : COSMICSDHB  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DSDHB
Mutations and Diseases : HGMDSDHB
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 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)
intoGenSDHB
OncoKBSDHB
NCG6 (London) select SDHB
Cancer3DSDHB(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM115310    171300    185470    606764    606864   
Orphanet243    3377    8775    10584    12880   
DisGeNETSDHB
MedgenSDHB
Genetic Testing Registry SDHB
NextProtP21912 [Medical]
GENETestsSDHB
Target ValidationSDHB
Huge Navigator SDHB [HugePedia]
ClinGenSDHB (curated)
Clinical trials, drugs, therapy
MyCancerGenomeSDHB
Protein Interactions : CTD
Pharm GKB GenePA35606
PharosP21912
Clinical trialSDHB
Miscellaneous
canSAR (ICR)SDHB (select the gene name)
HarmonizomeSDHB
DataMed IndexSDHB
Probes
Litterature
PubMed241 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXSDHB
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Feb 19 17:59:55 CET 2021

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