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

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

Written	2002-04	Anne-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

Other names	SDH1 (succinate dehydrogenase 1)
HGNC (Hugo)	SDHB
LocusID (NCBI)	6390
Atlas_Id	388
Location	1p36.13 [Link to chromosome band 1p36]
Location_base_pair	Starts at 17345225 and ends at 17380665 bp from pter ( according to hg19-Feb_2009) [Mapping SDHB.png]


	Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

Fusion genes (updated 2016)	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 ]

On line version : http://AtlasGeneticsOncology.org/Genes/SDHBID388.html

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]

Head and Neck: Paraganglioma: an overview
Neuro-Endocrine/Endocrine System: Phaeochromocytoma

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
	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] chr1:17345225-17380665 [Contig_View] SDHB [Vega]
Ensembl hg38 (Hinxton)	ENSG00000117118 [Gene_View] chr1:17345225-17380665 [Contig_View] SDHB [Vega]
ICGC DataPortal	ENSG00000117118
TCGA cBioPortal	SDHB
AceView (NCBI)	SDHB
Genatlas (Paris)	SDHB
WikiGenes	6390
SOURCE (Princeton)	SDHB
	Genomic and cartography
GoldenPath hg19 (UCSC)	SDHB - chr1:17345225-17380665 - 1p36.1-p35 [Description] (hg19-Feb_2009)
GoldenPath hg38 (UCSC)	SDHB - 1p36.1-p35 [Description] (hg38-Dec_2013)
Ensembl	SDHB - 1p36.1-p35 [CytoView hg19] SDHB - 1p36.1-p35 [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)	NC_000001 NC_018912 NG_012340 NT_032977 NW_004929289
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]
Genevisible	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	6390
GTEX Portal (Tissue expression)	SDHB
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P21912 (Uniprot)
NextProt	P21912 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	P21912
Splice isoforms : SwissVar	P21912 (Swissvar)
Catalytic activity : Enzyme	1.3.5.1 [ Enzyme-Expasy ] 1.3.5.1 1.3.5.1 [ 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-type 2Fe2S_fd_BS 4Fe4S_Fe-S-bd 4Fe4S_Fe_S_CS Beta-grasp_dom 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
DMDM Disease mutations	6390
Blocks (Seattle)	SDHB
Superfamily	P21912
Human Protein Atlas	ENSG00000117118
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 tricarboxylic acid cycle succinate metabolic process succinate dehydrogenase (ubiquinone) activity electron carrier activity aerobic respiration respiratory electron transport chain metal ion binding ubiquinone binding 2 iron, 2 sulfur cluster binding 3 iron, 4 sulfur cluster binding 4 iron, 4 sulfur cluster binding extracellular exosome
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 carrier activity aerobic respiration respiratory electron transport chain metal ion binding ubiquinone binding 2 iron, 2 sulfur cluster binding 3 iron, 4 sulfur cluster binding 4 iron, 4 sulfur cluster binding extracellular exosome
Pathways : BIOCARTA	Electron Transport Reaction in Mitochondria [Genes]
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-611105 Respiratory electron transport [pathway]
REACTOME Pathways	R-HSA-71403 Citric acid cycle (TCA cycle) [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
Homologs : HomoloGene	SDHB
Homology/Alignments : Family Browser (UCSC)	SDHB
	Gene fusions - Rearrangements
Fusion : Mitelman	SDHB/PLN [1p36.13/6q22.31]
Fusion: TCGA	SDHB 1p36.13 PLN 6q22.31 LUAD
	Polymorphisms : SNP, 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)	SDHB (select the gene name)
Genetic variants : HAPMAP	6390
Genomic Variants (DGV)	SDHB [DGVbeta]
	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
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
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor]
	Diseases
DECIPHER (Syndromes)	1:17345225-17380665 ENSG00000117118
CONAN: Copy Number Analysis	SDHB
Mutations and Diseases : HGMD	SDHB
OMIM	115310 171300 185470 606764 606864 612359
Medgen	SDHB
Genetic Testing Registry	SDHB
NextProt	P21912 [Medical]
TSGene	6390
GENETests	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	166 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	SDHB
EVEX	SDHB
GoPubMed	SDHB
iHOP	SDHB

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Mon Sep 19 19:21:17 CEST 2016

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