SDHD (succinate dehydrogenase complex II, subunit D, integral membrane protein)

Identity

Other names	SDH4 (succinate dehydrogenase 4)
HGNC	SDHD
Location	11q23
Location_base_pair	Starts at 111462832 and ends at 111471727 bp from pter ( according to hg18-Mar_2006).

DNA/RNA

Description	8895 bp, 4 exons
Transcription	A non transcribed sequence highly homologous to SDHD cDNA is present on chromosome 1p36-p34

Protein

Description	159 amino acids and 17 kDa
Expression	widely expressed
Localisation	mitochondrial inner membrane
Function	Complex II (succinate-ubiquinone oxidoreductase) of the respiratory chain is involved in the oxidation of succinate, carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. The subunit D protein or small subunit (cybS) is one of two integral membrane proteins anchoring the complex to membrane.
Homology	The complex II includes SDHC (cybL) and SDHB (iron-sulfur protein) which are also implicated in paragangliomas and pheochromocytomas.

Mutations

Germinal	Germline mutations cause hereditary paraganglioma. Different types of mutations are described. False-sense mutations, insertions and deletions leading to protein truncation and missense mutations.
Somatic	Loss of wild type allele in tumor DNA is usually observed.

Implicated in

Entity	Hereditary paraganglioma type 1 (also called familial non chromaffin paragangliomas 1, or familial glomus tumor)
Disease	Hereditary paraganglioma type 1 (PGL1) is a rare autosomal dominant disorder. The disease is transmitted through fathers and no disease phenotype is transmetted maternally in accordance with a maternal genomic imprinting. Paragangliomas are slow growing highly vascular tumor, usually benign, 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 pheochromocytomas.
Prognosis	It depends on extent of the disease at the time of diagnosis.

External links

	Nomenclature
HGNC	SDHD   10683
Entrez_Gene	SDHD  6392  succinate dehydrogenase complex, subunit D, integral membrane protein
	Cards
Atlas	SDHDID390
GeneCards	SDHD
Ensembl	SDHD [Search_View]   ENSG00000204370 [Gene_View]  SDHD [Vega]
Genatlas	SDHD
GeneLynx	SDHD
eGenome	SDHD
euGene	6392
	Genomic and cartography
GoldenPath	SDHD  -  11q23   chr11:111462832-111471727 +  11q23   [Description]    (hg18-Mar_2006)
Ensembl	SDHD - 11q23 [CytoView]
NCBI	Mapview
OMIM	Disease map [OMIM]
HomoloGene	SDHD
	Gene and transcription
Genbank	AB006202 [ ENTREZ ]
Genbank	AK075360 [ ENTREZ ]
Genbank	BC005263 [ ENTREZ ]
Genbank	BC009574 [ ENTREZ ]
Genbank	BC012603 [ ENTREZ ]
RefSeq	NM_003002 [ SRS ]    NM_003002 [ ENTREZ ]
RefSeq	AC_000054 [ SRS ]    AC_000054 [ ENTREZ ]
RefSeq	AC_000143 [ SRS ]    AC_000143 [ ENTREZ ]
RefSeq	NC_000011 [ SRS ]    NC_000011 [ ENTREZ ]
RefSeq	NT_033899 [ SRS ]    NT_033899 [ ENTREZ ]
RefSeq	NW_001838042 [ SRS ]    NW_001838042 [ ENTREZ ]
RefSeq	NW_925173 [ SRS ]    NW_925173 [ ENTREZ ]
CCDS	SDHD CCDS - NCBI
AceView	SDHD AceView - NCBI
Unigene	Hs.356270 [ SRS ]    Hs.356270 [ NCBI ]     HS356270 [ spliceNest ]
	Protein : pattern, domain, 3D structure
SwissProt	O14521 [ SRS]    O14521 [ EXPASY ]     O14521 [ INTERPRO ]     O14521 [ UNIPROT ] O14521 [ VarSplice ]
Interpro	IPR007992 CybS [ SRS ]    IPR007992 CybS [ EBI ]
CluSTr	O14521
Pfam	PF05328 CybS [ SRS ]    PF05328 CybS [ Sanger ]    pfam05328 [ NCBI-CDD ]
Blocks	O14521
HPRD	04069
	Protein Interaction databases
DIP	O14521
IntAct	O14521
	Polymorphism : SNP, mutations, diseases
OMIM	114900;168000;171300;602690;606864    [ map ]
GENECLINICS	114900;168000;171300;602690;606864
SNP	SDHD [dbSNP-NCBI]
SNP	NM_003002 [SNP-NCI]
SNP	SDHD [GeneSNPs - Utah]  SDHD] [HGBASE - SRS]
HAPMAP	SDHD [HAPMAP]
COSMIC	SDHD [Somatic mutation (COSMIC-CGP-Sanger)]
HGMD	SDHD
Genetic Association	SDHD
CDC HuGE	SDHD
	General knowledge
Family Browser	SDHD [UCSC Family Browser]
SOURCE	NM_003002
SMD	Hs.356270
SAGE	Hs.356270
GO	succinate dehydrogenase activity [Amigo]  succinate dehydrogenase activity
GO	iron ion binding [Amigo]  iron ion binding
GO	mitochondrion [Amigo]  mitochondrion
GO	mitochondrial envelope [Amigo]  mitochondrial envelope
GO	mitochondrial inner membrane [Amigo]  mitochondrial inner membrane
GO	mitochondrial inner membrane [Amigo]  mitochondrial inner membrane
GO	tricarboxylic acid cycle [Amigo]  tricarboxylic acid cycle
GO	transport [Amigo]  transport
GO	electron carrier activity [Amigo]  electron carrier activity
GO	membrane [Amigo]  membrane
GO	integral to membrane [Amigo]  integral to membrane
GO	heme binding [Amigo]  heme binding
GO	metal ion binding [Amigo]  metal ion binding
BIOCARTA	Electron Transport Reaction in Mitochondria    [Genes]
KEGG	Citrate cycle (TCA cycle)
KEGG	Oxidative phosphorylation
PubGene	SDHD
TreeFam	SDHD
CTD	6392 [Comparative ToxicoGenomics Database]
	Other databases
	Probes
Probe	SDHD Related clones (RZPD - Berlin)
	PubMed
PubMed	50 Pubmed reference(s) in Entrez

Bibliography

Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23.

Hirawake H, Taniwaki M, Tamura A, Kojima S, Kita K

Cytogenetics and cell genetics. 1997 ; 79 (1-2) : 132-138.

PMID 9533030

Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase.

Hirawake H, Taniwaki M, Tamura A, Amino H, Tomitsuka E, Kita K

Biochimica et biophysica acta. 1999 ; 1412 (3) : 295-300.

PMID 10482792

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW 3rd, Cornelisse CJ, Devilee P, Devlin B

Science (New York, N.Y.). 2000 ; 287 (5454) : 848-851.

PMID 10657297

Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

Gimm O, Armanios M, Dziema H, Neumann HP, Eng C

Cancer research. 2000 ; 60 (24) : 6822-6825.

PMID 11156372

Germline SDHD mutation in familial phaeochromocytoma.

Astuti D, Douglas F, Lennard TW, Aligianis IA, Woodward ER, Evans DG, Eng C, Latif F, Maher ER

Lancet. 2001 ; 357 (9263) : 1181-1182.

PMID 11323050

A high-resolution integrated map spanning the SDHD gene at 11q23: a 1.1-Mb BAC contig, a partial transcript map and 15 new repeat polymorphisms in a tumour-suppressor region.

Baysal BE, Willett-Brozick JE, Taschner PE, Dauwerse JG, Devilee P, Devlin B

European journal of human genetics : EJHG. 2001 ; 9 (2) : 121-129.

PMID 11313745

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

Milunsky JM, Maher TA, Michels VV, Milunsky A

American journal of medical genetics. 2001 ; 100 (4) : 311-314.

PMID 11343322

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

Taschner PE, Jansen JC, Baysal BE, Bosch A, Rosenberg EH, Br��cker-Vriends AH, van Der Mey AG, van Ommen GJ, Cornelisse CJ, Devilee P

Genes, chromosomes & cancer. 2001 ; 31 (3) : 274-281.

PMID 11391798

The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway.

Gimenez-Roqueplo AP, Favier J, Rustin P, Mourad JJ, Plouin PF, Corvol P, R��tig A, Jeunemaitre X

American journal of human genetics. 2001 ; 69 (6) : 1186-1197.

PMID 11605159

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Last year publications	automatic search in PubMed

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Contributor(s)

Written	02-2002	Anne-Paule Gimenez-Roqueplo

Citation

This paper should be referenced as such :

Gimenez-Roqueplo AP . SDHD (succinate dehydrogenase complex II, subunit D, integral membrane protein). Atlas Genet Cytogenet Oncol Haematol. February 2002 . URL : http://AtlasGeneticsOncology.org/Genes/SDHDID390.html

© Atlas of Genetics and Cytogenetics in Oncology and Haematology

indexed on : Sun Nov 9 19:47:26 2008