Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Identity

Other namesSDH1 (succinate dehydrogenase 1)
HGNC (Hugo) SDHB
LocusID (NCBI) 6390
Location 1p36.13
Location_base_pair Starts at 17345225 and ends at 17380665 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

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

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.
  

External links

Nomenclature
HGNC (Hugo)SDHB   10681
Cards
AtlasSDHBID388
Entrez_Gene (NCBI)SDHB  6390  succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
GeneCards (Weizmann)SDHB
Ensembl (Hinxton)ENSG00000117118 [Gene_View]  chr1:17345225-17380665 [Contig_View]  SDHB [Vega]
ICGC DataPortalENSG00000117118
cBioPortalSDHB
AceView (NCBI)SDHB
Genatlas (Paris)SDHB
WikiGenes6390
SOURCE (Princeton)NM_003000
Genomic and cartography
GoldenPath (UCSC)SDHB  -  1p36.13   chr1:17345225-17380665 -  1p36.1-p35   [Description]    (hg19-Feb_2009)
EnsemblSDHB - 1p36.1-p35 [CytoView]
Mapping of homologs : NCBISDHB [Mapview]
OMIM115310   171300   185470   606764   606864   612359   
Gene and transcription
Genbank (Entrez)AK312056 BC007840 BF796275 BU554163 D10245
RefSeq transcript (Entrez)NM_003000
RefSeq genomic (Entrez)AC_000133 NC_000001 NC_018912 NG_012340 NT_004610 NW_001838572 NW_004929289
Consensus coding sequences : CCDS (NCBI)SDHB
Cluster EST : UnigeneHs.465924 [ NCBI ]
CGAP (NCI)Hs.465924
Alternative Splicing : Fast-db (Paris)GSHG0001796
Alternative Splicing GalleryENSG00000117118
Gene ExpressionSDHB [ NCBI-GEO ]     SDHB [ SEEK ]   SDHB [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21912 (Uniprot)
NextProtP21912  [Medical]
With graphics : InterProP21912
Splice isoforms : SwissVarP21912 (Swissvar)
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 ]   
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-type [organisation]   2Fe2S_fd_BS [organisation]   4Fe4S_Fe-S-bd [organisation]   4Fe4S_Fe_S_CS [organisation]   Beta-grasp_dom [organisation]   Helical_ferredxn [organisation]   Succ_DH/fum_Rdtase_Fe-S [organisation]   Succ_DH/fum_Rdtase_N [organisation]  
Related proteins : CluSTrP21912
Domain families : Pfam (Sanger)Fer2_3 (PF13085)   
Domain families : Pfam (NCBI)pfam13085   
DMDM Disease mutations6390
Blocks (Seattle)P21912
Human Protein AtlasENSG00000117118 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP21912
HPRD01707
IPIIPI00294911   
Protein Interaction databases
DIP (DOE-UCLA)P21912
IntAct (EBI)P21912
FunCoupENSG00000117118
BioGRIDSDHB
InParanoidP21912
Interologous Interaction database P21912
IntegromeDBSDHB
STRING (EMBL)SDHB
Ontologies - Pathways
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial respiratory chain complex II  tricarboxylic acid cycle  tricarboxylic acid cycle  succinate metabolic process  succinate dehydrogenase (ubiquinone) activity  electron carrier activity  aerobic respiration  respiratory electron transport chain  cellular metabolic process  small molecule metabolic process  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-EBIprotein binding  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial respiratory chain complex II  tricarboxylic acid cycle  tricarboxylic acid cycle  succinate metabolic process  succinate dehydrogenase (ubiquinone) activity  electron carrier activity  aerobic respiration  respiratory electron transport chain  cellular metabolic process  small molecule metabolic process  metal ion binding  ubiquinone binding  2 iron, 2 sulfur cluster binding  3 iron, 4 sulfur cluster binding  4 iron, 4 sulfur cluster 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   
Protein Interaction DatabaseSDHB
Wikipedia pathwaysSDHB
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)SDHB
snp3D : Map Gene to Disease6390
SNP (GeneSNP Utah)SDHB
SNP : HGBaseSDHB
Genetic variants : HAPMAPSDHB
Exome VariantSDHB
1000_GenomesSDHB 
ICGC programENSG00000117118 
Cancer Gene: CensusSDHB 
Somatic Mutations in Cancer : COSMICSDHB 
CONAN: Copy Number AnalysisSDHB 
Mutations and Diseases : HGMDSDHB
Genomic VariantsSDHB  SDHB [DGVbeta]
dbVarSDHB
ClinVarSDHB
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM115310    171300    185470    606764    606864    612359   
MedgenSDHB
GENETestsSDHB
Disease Genetic AssociationSDHB
Huge Navigator SDHB [HugePedia]  SDHB [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneSDHB
Homology/Alignments : Family Browser (UCSC)SDHB
Phylogenetic Trees/Animal Genes : TreeFamSDHB
Chemical/Protein Interactions : CTD6390
Chemical/Pharm GKB GenePA35606
Clinical trialSDHB
Cancer Resource (Charite)ENSG00000117118
Other databases
Probes
Litterature
PubMed136 Pubmed reference(s) in Entrez
CoreMineSDHB
iHOPSDHB

Bibliography

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
 
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
 
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, Skˆldberg F, Husebye ES, Eng C, Maher ER
American journal of human genetics. 2001 ; 69 (1) : 49-54.
PMID 11404820
 
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
 
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written04-2002Anne-Paule Gimenez-Roqueplo
Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20-40, rue Leblanc, 75908 Paris cedex 15, France

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 online version   Free pdf version   [Bibliographic record ]
URL : http://AtlasGeneticsOncology.org/Genes/SDHBID388.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jul 11 16:41:03 CEST 2014

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.