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SDHC (succinate dehydrogenase complex II, subunit C, integral membrane protein)

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_namesPGL3
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD
succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
Alias_symbol (synonym)CYB560
cybL
Other aliasSDH3 (succinate dehydrogenase 3)
HGNC (Hugo) SDHC
LocusID (NCBI) 6391
Atlas_Id 389
Location 1q23.3  [Link to chromosome band 1q23]
Location_base_pair Starts at 161284166 and ends at 161334535 bp from pter ( according to hg19-Feb_2009)  [Mapping SDHC.png]
Fusion genes
(updated 2016)
PCP4L1 (1q23.3) / SDHC (1q23.3)SDHC (1q23.3) / NDUFS2 (1q23.3)

DNA/RNA

Description 1180 bp, 6 exons

Protein

Description 169 amino acids and 15.5 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 C protein or large subunit (cybL) is one of two integral membrane proteins anchoring the complex to membrane.
Homology The complex II includes SDHD (cybS) and SDHB (iron-sulfur protein) which are also implicated in paragangliomas and pheochromocytomas.

Mutations

Germinal Germline mutations cause hereditary paraganglioma. At this time, an unique mutation which destroyed the initial site of traduction (ATG, start codon) of SDHC gene has been reported in a family with a hereditary paraganglioma.
Somatic Loss of wild type allele in tumor DNA is usually observed.

Implicated in

Note
  
Entity Hereditary paraganglioma type 3
Note Alias: Familial non chromaffin paragangliomas 3; Familial glomus tumor
Disease Hereditary paraganglioma type 3 (PGL3) is a rare autosomal dominant disorder non maternally imprinted. 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).
Prognosis It depends on extent of the disease at the time of diagnosis.
  

Bibliography

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
 
Characterization of the human SDHC gene encoding of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria.
Elbehti-Green A, Au HC, Mascarello JT, Ream-Robinson D, Scheffler IE
Gene. 1998 ; 213 (1-2) : 133-140.
PMID 9714607
 
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
 
Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma.
Niemann S, Becker-Follmann J, Nürnberg G, Rüschendorf F, Sieweke N, Hügens-Penzel M, Traupe H, Wienker TF, Reis A, Müller U
American journal of medical genetics. 2001 ; 98 (1) : 32-36.
PMID 11426453
 
Mutations in SDHC cause autosomal dominant paraganglioma, type 3.
Niemann S, Müller U
Nature genetics. 2000 ; 26 (3) : 268-270.
PMID 11062460
 

Citation

This paper should be referenced as such :
Gimenez-Roqueplo, AP
SDHC (succinate dehydrogenase complex II, subunit C, integral membrane protein)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):204-205.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/SDHCID389.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  Head and Neck: Paraganglioma: an overview


Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]
  Familial /sporadic gastrointestinal stromal tumors (GISTs) Hereditary paraganglioma (PGL)


External links

Nomenclature
HGNC (Hugo)SDHC   10682
LRG (Locus Reference Genomic)LRG_317
Cards
AtlasSDHCID389
Entrez_Gene (NCBI)SDHC  6391  succinate dehydrogenase complex subunit C
AliasesCYB560; CYBL; PGL3; QPS1; 
SDH3
GeneCards (Weizmann)SDHC
Ensembl hg19 (Hinxton)ENSG00000143252 [Gene_View]  chr1:161284166-161334535 [Contig_View]  SDHC [Vega]
Ensembl hg38 (Hinxton)ENSG00000143252 [Gene_View]  chr1:161284166-161334535 [Contig_View]  SDHC [Vega]
ICGC DataPortalENSG00000143252
TCGA cBioPortalSDHC
AceView (NCBI)SDHC
Genatlas (Paris)SDHC
WikiGenes6391
SOURCE (Princeton)SDHC
Genetics Home Reference (NIH)SDHC
Genomic and cartography
GoldenPath hg19 (UCSC)SDHC  -     chr1:161284166-161334535 +  1q23.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SDHC  -     1q23.3   [Description]    (hg38-Dec_2013)
EnsemblSDHC - 1q23.3 [CytoView hg19]  SDHC - 1q23.3 [CytoView hg38]
Mapping of homologs : NCBISDHC [Mapview hg19]  SDHC [Mapview hg38]
OMIM602413   605373   606764   606864   
Gene and transcription
Genbank (Entrez)AB201252 AB211234 AB211235 AB212048 AK131051
RefSeq transcript (Entrez)NM_001035511 NM_001035512 NM_001035513 NM_001278172 NM_003001
RefSeq genomic (Entrez)NC_000001 NC_018912 NG_012767 NT_004487 NW_004929293
Consensus coding sequences : CCDS (NCBI)SDHC
Cluster EST : UnigeneHs.444472 [ NCBI ]
CGAP (NCI)Hs.444472
Alternative Splicing GalleryENSG00000143252
Gene ExpressionSDHC [ NCBI-GEO ]   SDHC [ EBI - ARRAY_EXPRESS ]   SDHC [ SEEK ]   SDHC [ MEM ]
Gene Expression Viewer (FireBrowse)SDHC [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6391
GTEX Portal (Tissue expression)SDHC
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99643   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ99643  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ99643
Splice isoforms : SwissVarQ99643
PhosPhoSitePlusQ99643
Domaine pattern : Prosite (Expaxy)SDH_CYT_1 (PS01000)    SDH_CYT_2 (PS01001)   
Domains : Interpro (EBI)Succ_DH_cyt_bsu_CS    Succ_DH_cytb556    Succ_DH_Fumarate_Rdtase_TM-su   
Domain families : Pfam (Sanger)Sdh_cyt (PF01127)   
Domain families : Pfam (NCBI)pfam01127   
Conserved Domain (NCBI)SDHC
DMDM Disease mutations6391
Blocks (Seattle)SDHC
SuperfamilyQ99643
Human Protein AtlasENSG00000143252
Peptide AtlasQ99643
HPRD03878
IPIIPI00016968   IPI00655605   IPI00943958   IPI00655889   IPI00655681   IPI00966412   
Protein Interaction databases
DIP (DOE-UCLA)Q99643
IntAct (EBI)Q99643
FunCoupENSG00000143252
BioGRIDSDHC
STRING (EMBL)SDHC
ZODIACSDHC
Ontologies - Pathways
QuickGOQ99643
Ontology : AmiGOsuccinate dehydrogenase activity  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)  mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)  tricarboxylic acid cycle  tricarboxylic acid cycle  mitochondrial electron transport, succinate to ubiquinone  electron carrier activity  aerobic respiration  integral component of membrane  heme binding  respiratory chain complex II  metal ion binding  oxidation-reduction process  
Ontology : EGO-EBIsuccinate dehydrogenase activity  mitochondrion  mitochondrial inner membrane  mitochondrial inner membrane  mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)  mitochondrial respiratory chain complex II, succinate dehydrogenase complex (ubiquinone)  tricarboxylic acid cycle  tricarboxylic acid cycle  mitochondrial electron transport, succinate to ubiquinone  electron carrier activity  aerobic respiration  integral component of membrane  heme binding  respiratory chain complex II  metal ion binding  oxidation-reduction process  
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   
REACTOMEQ99643 [protein]
REACTOME Pathways611105 [pathway]   71403 [pathway]   
NDEx NetworkSDHC
Atlas of Cancer Signalling NetworkSDHC
Wikipedia pathwaysSDHC
Orthology - Evolution
OrthoDB6391
GeneTree (enSembl)ENSG00000143252
Phylogenetic Trees/Animal Genes : TreeFamSDHC
HOVERGENQ99643
HOGENOMQ99643
Homologs : HomoloGeneSDHC
Homology/Alignments : Family Browser (UCSC)SDHC
Gene fusions - Rearrangements
Fusion : MitelmanPCP4L1/SDHC [1q23.3/1q23.3]  [t(1;1)(q23;q23)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSDHC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SDHC
dbVarSDHC
ClinVarSDHC
1000_GenomesSDHC 
Exome Variant ServerSDHC
ExAC (Exome Aggregation Consortium)SDHC (select the gene name)
Genetic variants : HAPMAP6391
Genomic Variants (DGV)SDHC [DGVbeta]
DECIPHER (Syndromes)1:161284166-161334535  ENSG00000143252
CONAN: Copy Number AnalysisSDHC 
Mutations
ICGC Data PortalSDHC 
TCGA Data PortalSDHC 
Broad Tumor PortalSDHC
OASIS PortalSDHC [ Somatic mutations - Copy number]
Cancer Gene: CensusSDHC 
Somatic Mutations in Cancer : COSMICSDHC  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSDHC
LOVD (Leiden Open Variation Database)Whole genome datasets
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 SDHC
DgiDB (Drug Gene Interaction Database)SDHC
DoCM (Curated mutations)SDHC (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SDHC (select a term)
intoGenSDHC
NCG5 (London)SDHC
Cancer3DSDHC(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602413    605373    606764    606864   
Orphanet243    8775    10584    12880   
MedgenSDHC
Genetic Testing Registry SDHC
NextProtQ99643 [Medical]
TSGene6391
GENETestsSDHC
Huge Navigator SDHC [HugePedia]
snp3D : Map Gene to Disease6391
BioCentury BCIQSDHC
ClinGenSDHC (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6391
Chemical/Pharm GKB GenePA35607
Clinical trialSDHC
Miscellaneous
canSAR (ICR)SDHC (select the gene name)
Probes
Litterature
PubMed65 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSDHC
EVEXSDHC
GoPubMedSDHC
iHOPSDHC
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:49:08 CET 2017

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