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)

Identity

Other names	SDH1 (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
Entrez_Gene (NCBI)	SDHB 6390 succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
	Cards
Atlas	SDHBID388
GeneCards (Weizmann)	SDHB
Ensembl (Hinxton)	ENSG00000117118 [Gene_View] chr1:17345225-17380665 [Contig_View] SDHB [Vega]
AceView (NCBI)	SDHB
Genatlas (Paris)	SDHB
SOURCE (Stanford)	NM_003000
	Genomic and cartography
GoldenPath (UCSC)	SDHB - 1p36.13 chr1:17345225-17380665 - 1p36.1-p35 [Description] (hg19-Feb_2009)
Ensembl	SDHB - 1p36.1-p35 [CytoView]
Mapping of homologs : NCBI	SDHB [Mapview]
OMIM	115310 171300 185470 606764 606864 612359
	Gene and transcription
Genbank (Entrez)	AK312056 BC007840 BF796275 BU554163 D10245
RefSeq transcript (SRS)	NM_003000
RefSeq transcript (Entrez)	NM_003000
RefSeq genomic (SRS)	AC_000133 NC_000001 NC_018912 NG_012340 NT_004610 NW_001838572 NW_004929289
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 : Unigene	Hs.465924 [ SRS ] Hs.465924 [ NCBI ]
CGAP (NCI)	Hs.465924
Alternative Splicing : Fast-db (Paris)	GSHG0001796
Alternative Splicing Gallery	ENSG00000117118
Gene Expression	SDHB [ NCBI-GEO ] SDHB [ EBI - ARRAY_EXPRESS ]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	P21912 (SRS) P21912 (Uniprot)
NextProt	P21912 [Medical]
With graphics : InterPro	P21912
Splice isoforms : SwissVar	P21912(Swissvar)
Domaine pattern : Prosite (SRS)	2FE2S_FER_1 (PS00197) 2FE2S_FER_2 (PS51085) 4FE4S_FER_1 (PS00198) 4FE4S_FER_2 (PS51379)
Domaine pattern : Prosite (Expaxy)	2FE2S_FER_1 (PS00197) 2FE2S_FER_2 (PS51085) 4FE4S_FER_1 (PS00198) 4FE4S_FER_2 (PS51379)
Domains : Interpro (SRS)	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
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
Related proteins : CluSTr	P21912
Domain families : Pfam (SRS)	Fer2_3 (PF13085)
Domain families : Pfam (Sanger)	Fer2_3 (PF13085)
Domain families : Pfam (NCBI)	pfam13085
DMDM	6390
Blocks (Seattle)	P21912
Human Protein Atlas	ENSG00000117118
HPRD	01707
IPI	IPI00294911
	Protein Interaction databases
DIP (DOE-UCLA)	P21912
IntAct (EBI)	P21912
FunCoup	ENSG00000117118
REACTOME	SDHB
Protein Interaction Database	6390
BioGRID	SDHB
InParanoid	P21912
Interologous Interaction database	P21912
IntegromeDB	SDHB
	Gene fusion - rearrangments
	Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)	SDHB
SNP (GeneSNP Utah)	SDHB
SNP : HGBase	SDHB
Genetic variants : HAPMAP	SDHB
Somatic Mutations in Cancer : COSMIC	SDHB
CONAN: Copy Number Analysis	SDHB
Mutations and Diseases : HGMD	SDHB
OMIM	115310 171300 185470 606764 606864 612359
GENETests	115310 171300 185470 606764 606864 612359
Disease Genetic Association	SDHB
Huge Navigator	SDHB [HugePedia] SDHB [HugeCancerGEM]
Genomic Variants	SDHB SDHB [DGVbeta]
ClinVar	SDHB
snp3D : Map Gene to Disease	6390
	General knowledge
Homologs : HomoloGene	SDHB
Homology/Alignments : Family Browser (UCSC)	SDHB
Phylogenetic Trees/Animal Genes : TreeFam	SDHB
Catalytic activity : Enzyme	1.3.5.1 [ Enzyme-Expasy ] 1.3.5.1 [ Enzyme-SRS ] 1.3.5.1 [ IntEnz-EBI ] 1.3.5.1 [ BRENDA ] 1.3.5.1 [ KEGG ]
Chemical/Protein Interactions : CTD	6390
Chemical/Pharm GKB Gene	PA35606
Clinical trial	SDHB
Cancer Resource (Charite)	ENSG00000117118
Ontology : AmiGO	protein 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-EBI	protein 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 : BIOCARTA	Electron Transport Reaction in Mitochondria [Genes]
Pathways : KEGG	Citrate cycle (TCA cycle)Oxidative phosphorylation
	Other databases
	Probes
	Litterature
PubMed	136 Pubmed reference(s) in Entrez
PubGene	SDHB
iHOP	SDHB

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, Skˆldberg 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 articles	automatic search in PubMed
Last year publications	automatic search in PubMed

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Contributor(s)

Written	04-2002	Anne-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. April 2002 .

URL : http://AtlasGeneticsOncology.org/Genes/SDHBID388.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/37869/1/04-2002-SDHBID388.pdf [ Bibliographic record ]

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indexed on : Tue Dec 3 19:31:43 CET 2013

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