true1998-12-152024-03-27223DHSD_HUMANCytochrome 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.doi:10.1159/0001347001997Cytogenet. Cell Genet.79132-138NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)LiverCharacterization 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.doi:10.1016/s0005-2728(99)00071-71999Biochim. Biophys. Acta1412295-300NUCLEOTIDE SEQUENCE [GENOMIC DNA]Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.Otsuki T.Ota T.Nishikawa T.Hayashi K.Suzuki Y.Yamamoto J.Wakamatsu A.Kimura K.Sakamoto K.Hatano N.Kawai Y.Ishii S.Saito K.Kojima S.Sugiyama T.Ono T.Okano K.Yoshikawa Y.Aotsuka S.Sasaki N.Hattori A.Okumura K.Nagai K.Sugano S.Isogai T.doi:10.1093/dnares/12.2.1172005DNA Res.12117-126NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)Cloning of human full-length CDSs in BD Creator(TM) system donor vector.Kalnine N.Chen X.Rolfs A.Halleck A.Hines L.Eisenstein S.Koundinya M.Raphael J.Moreira D.Kelley T.LaBaer J.Lin Y.Phelan M.Farmer A.2003-05EMBL/GenBank/DDBJNUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).Ebert L.Schick M.Neubert P.Schatten R.Henze S.Korn B.2004-06EMBL/GenBank/DDBJNUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)Human chromosome 11 DNA sequence and analysis including novel gene identification.Taylor T.D.Noguchi H.Totoki Y.Toyoda A.Kuroki Y.Dewar K.Lloyd C.Itoh T.Takeda T.Kim D.-W.She X.Barlow K.F.Bloom T.Bruford E.Chang J.L.Cuomo C.A.Eichler E.FitzGerald M.G.Jaffe D.B.LaButti K.Nicol R.Park H.-S.Seaman C.Sougnez C.Yang X.Zimmer A.R.Zody M.C.Birren B.W.Nusbaum C.Fujiyama A.Hattori M.Rogers J.Lander E.S.Sakaki Y.doi:10.1038/nature046322006Nature440497-500NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]Mural R.J.Istrail S.Sutton G.G.Florea L.Halpern A.L.Mobarry C.M.Lippert R.Walenz B.Shatkay H.Dew I.Miller J.R.Flanigan M.J.Edwards N.J.Bolanos R.Fasulo D.Halldorsson B.V.Hannenhalli S.Turner R.Yooseph S.Lu F.Nusskern D.R.Shue B.C.Zheng X.H.Zhong F.Delcher A.L.Huson D.H.Kravitz S.A.Mouchard L.Reinert K.Remington K.A.Clark A.G.Waterman M.S.Eichler E.E.Adams M.D.Hunkapiller M.W.Myers E.W.Venter J.C.2005-07EMBL/GenBank/DDBJNUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).The MGC Project Teamdoi:10.1101/gr.25965042004Genome Res.142121-2127NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)Bone marrowBrainLungSkeletal muscleInitial characterization of the human central proteome.Burkard T.R.Planyavsky M.Kaupe I.Breitwieser F.P.Buerckstuemmer T.Bennett K.L.Superti-Furga G.Colinge J.doi:10.1186/1752-0509-5-172011BMC Syst. Biol.517IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.Bian Y.Song C.Cheng K.Dong M.Wang F.Huang J.Sun D.Wang L.Ye M.Zou H.doi:10.1016/j.jprot.2013.11.0142014J. Proteomics96253-262IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]N-terminome analysis of the human mitochondrial proteome.Vaca Jacome A.S.Rabilloud T.Schaeffer-Reiss C.Rompais M.Ayoub D.Lane L.Bairoch A.Van Dorsselaer A.Carapito C.doi:10.1002/pmic.2014006172015Proteomics152519-2524IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.Gimm O.Armanios M.Dziema H.Neumann H.P.H.Eng C.2000Cancer Res.606822-6825VARIANT PPGL1 LEU-81Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.Baysal B.E.Ferrell R.E.Willett-Brozick J.E.Lawrence E.C.Myssiorek D.Bosch A.van der Mey A.Taschner P.E.M.Rubinstein W.S.Myers E.N.Richard C.W. IIICornelisse C.J.Devilee P.Devlin B.doi:10.1126/science.287.5454.8482000Science287848-851VARIANTS PPGL1 LEU-81; TYR-92 AND LEU-102Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.Milunsky J.M.Maher T.A.Michels V.V.Milunsky A.doi:10.1002/ajmg.12702001Am. J. Med. Genet.100311-314VARIANT PPGL1 CYS-114Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.Badenhop R.F.Cherian S.Lord R.S.A.Baysal B.E.Taschner P.E.M.Schofield P.R.doi:10.1002/gcc.11422001Genes Chromosomes Cancer31255-263VARIANT PPGL1 TYR-93 DELNearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.Taschner P.E.M.Jansen J.C.Baysal B.E.Bosch A.Rosenberg E.H.Broecker-Vriends A.H.J.T.van Der Mey A.G.L.van Ommen G.-J.B.Cornelisse C.J.Devilee P.doi:10.1002/gcc.11442001Genes Chromosomes Cancer31274-281VARIANTS PPGL1 TYR-92 AND PRO-139Germline SDHD mutation in paraganglioma of the spinal cord.Masuoka J.Brandner S.Paulus W.Soffer D.Vital A.Chimelli L.Jouvet A.Yonekawa Y.Kleihues P.Ohgaki H.doi:10.1038/sj.onc.12045792001Oncogene205084-5086VARIANT SER-12Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas.Kytoelae S.Nord B.Elder E.E.Carling T.Kjellman M.Cedermark B.Juhlin C.Hoeoeg A.Isola J.Larsson C.doi:10.1002/gcc.100812002Genes Chromosomes Cancer34325-332VARIANTS SER-12 AND ARG-50Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.Gimenez-Roqueplo A.-P.Favier J.Rustin P.Rieubland C.Crespin M.Nau V.Khau Van Kien P.Corvol P.Plouin P.-F.Jeunemaitre X.2003Cancer Res.635615-5621VARIANTS SER-12 AND ARG-50Germ-line mutations in nonsyndromic pheochromocytoma.Neumann H.P.H.Bausch B.McWhinney S.R.Bender B.U.Gimm O.Franke G.Schipper J.Klisch J.Altehoefer C.Zerres K.Januszewicz A.Smith W.M.Munk R.Manz T.Glaesker S.Apel T.W.Treier M.Reineke M.Walz M.K.Hoang-Vu C.Brauckhoff M.Klein-Franke A.Klose P.Schmidt H.Maier-Woelfle M.Peczkowska M.Szmigielski C.Eng C.The Freiburg-Warsaw-Columbus pheochromocytoma study groupdoi:10.1056/nejmoa0201522002N. Engl. J. Med.3461459-1466VARIANT PPGL1 TYR-92G12S and H50R variations are polymorphisms in the SDHD gene.Cascon A.Ruiz-Llorente S.Cebrian A.Leton R.Telleria D.Benitez J.Robledo M.doi:10.1002/gcc.102122003Genes Chromosomes Cancer37220-221DISCUSSION OF PATHOGENIC ROLE OF VARIANTS SER-12 AND ARG-50Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.Neumann H.P.H.Pawlu C.Peczkowska M.Bausch B.McWhinney S.R.Muresan M.Buchta M.Franke G.Klisch J.Bley T.A.Hoegerle S.Boedeker C.C.Opocher G.Schipper J.Januszewicz A.Eng C.doi:10.1001/jama.292.8.9432004JAMA292943-951Neumann H.P.H.Pawlu C.Peczkowska M.Bausch B.McWhinney S.R.Muresan M.Buchta M.Franke G.Klisch J.Bley T.A.Hoegerle S.Boedeker C.C.Opocher G.Schipper J.Januszewicz A.Eng C.2004JAMA2921686VARIANTS PPGL1 LEU-81; TYR-92; CYS-114 AND VAL-148SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism.Leube B.Huber R.Goecke T.O.Sandmann W.Royer-Pokora B.doi:10.1111/j.2004.00174.x2004Clin. Genet.6561-63VARIANT SER-12Familial gastrointestinal stromal tumors and germ-line mutations.McWhinney S.R.Pasini B.Stratakis C.A.doi:10.1056/nejmc0711912007N. Engl. J. Med.3571054-1056INVOLVEMENT IN PGGSSGermline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.Ni Y.Zbuk K.M.Sadler T.Patocs A.Lobo G.Edelman E.Platzer P.Orloff M.S.Waite K.A.Eng C.doi:10.1016/j.ajhg.2008.07.0112008Am. J. Hum. Genet.83261-268VARIANTS SER-12; ARG-50 AND ASN-145CHARACTERIZATION OF VARIANTS SER-12; ARG-50 AND ASN-145DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.Ley T.J.Mardis E.R.Ding L.Fulton B.McLellan M.D.Chen K.Dooling D.Dunford-Shore B.H.McGrath S.Hickenbotham M.Cook L.Abbott R.Larson D.E.Koboldt D.C.Pohl C.Smith S.Hawkins A.Abbott S.Locke D.Hillier L.W.Miner T.Fulton L.Magrini V.Wylie T.Glasscock J.Conyers J.Sander N.Shi X.Osborne J.R.Minx P.Gordon D.Chinwalla A.Zhao Y.Ries R.E.Payton J.E.Westervelt P.Tomasson M.H.Watson M.Baty J.Ivanovich J.Heath S.Shannon W.D.Nagarajan R.Walter M.J.Link D.C.Graubert T.A.DiPersio J.F.Wilson R.K.doi:10.1038/nature074852008Nature45666-72VARIANT [LARGE SCALE ANALYSIS] SER-12Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.Jackson C.B.Nuoffer J.M.Hahn D.Prokisch H.Haberberger B.Gautschi M.Haeberli A.Gallati S.Schaller A.doi:10.1136/jmedgenet-2013-1019322014J. Med. Genet.51170-175VARIANT MC2DN3 LYS-69CHARACTERIZATION OF VARIANT MC2DN3 LYS-69INVOLVEMENT IN MC2DN3A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.Alston C.L.Ceccatelli Berti C.Blakely E.L.Olahova M.He L.McMahon C.J.Olpin S.E.Hargreaves I.P.Nolli C.McFarland R.Goffrini P.O'Sullivan M.J.Taylor R.W.doi:10.1007/s00439-015-1568-z2015Hum. Genet.134869-879VARIANT MC2DN3 GLY-92INVOLVEMENT IN MC2DN3CHARACTERIZATION OF VARIANT MC2DN3 GLY-92Atlas of Genetics and Cytogenetics in Oncology and HaematologyWikipedia; SDHD entryTCA Cycle Gene Mutation Database2.86D=1-15929Mitochondrial respiratory chain complex II62-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-TriolHexachloropheneUbiquinone Q1the prokaryotic succinate dehydrogenase (sdh) family1 site, 1 O-linked glycan (1 site)149 antibodies from 29 providershumanSDHDLow tissue specificityphenotypegenephenotypephenotypeCarcinoid syndromeCarney-Stratakis syndromeCowden syndromeHereditary pheochromocytoma-paragangliomaIsolated succinate-CoQ reductase deficiencySporadic pheochromocytoma/secreting paragangliomaEukaryotaRespiratory electron transportCitric acid cycle (TCA cycle)521 hits in 1170 CRISPR screenshumanTbioProteinExpressed in jejunal mucosa and 203 other cell types or tissuesbaseline and differentialSQR_TypeC_CybSFumarate reductase/succinate dehydrogenase, transmembrane subunitCybSSQR/QFR_C/DSUCCINATE DEHYDROGENASESUCCINATE DEHYDROGENASE [UBIQUINONE] CYTOCHROME B SMALL SUBUNIT, MITOCHONDRIALCybSFumarate reductase respiratory complex transmembrane subunitsHSSuccinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrialCybSCII-4QPs3Succinate dehydrogenase complex subunit DSuccinate-ubiquinone oxidoreductase cytochrome b small subunitSuccinate-ubiquinone reductase membrane anchor subunitSDHDSDH4Membrane-anchoring subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD.The disease is caused by variants affecting the gene represented in this entry.The disease is caused by variants affecting the gene represented in this entry.The disease is caused by variants affecting the gene represented in this entry.Belongs to the CybS family.Mitochondrion156Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial1088957159Mitochondrial matrix63Helical6485Mitochondrial intermembrane8690Helical91111Mitochondrial matrix112120Helical121142Mitochondrial intermembrane143axial binding residue102114In isoform 2.19In isoform 3.HWALDKLLLTMFMGMPCRKLPRQGFWHFQ158In isoform 4.LECNGAILARHDLGSARSQLTATSAFRVQAILLPQPPK106In isoform 4.144Probable risk factor for pheochromocytoma, paraganglioma, intestinal carcinoid tumor and breast, renal and uterus carcinoma; increased manganese superoxide dismutase expression and increased reactive oxygen species; results in 1.9-fold increase in both AKT and MAPK expression.S12Probable risk factor for paraganglioma, breast and thyroid carcinoma; may be involved in somatic Merkel cell carcinoma; increased manganese superoxide dismutase expression and increased reactive oxygen species; results in a 2.0-fold increase in AKT expression and a 1.7-fold increase in MAPK expression.R50In MC2DN3; results in impaired mitochondrial complex II assembly; results in impaired cellular respiration.K69In PPGL1.L81In MC2DN3; results in highly reduced protein expression; results in impaired cellular respiration.G92In PPGL1.YIn PPGL1.93In PPGL1.LIn PPGL1.CIn PPGL1.P139Found in an individual with features of Cowden syndrome; uncertain significance; increased manganese superoxide dismutase expression and normal reactive oxygen species; no change in AKT expression but a 1.2-fold increase of MAPK expression.N145In PPGL1.V148F74ligand shared with SDHCligand shared with IP/SDHBfalse3RHBDD21998-01-011true17043ba728ef7513f8af9453814e3831cd3d21MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL2MAVLWRLSAVCGALGGRAGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL3MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHWALDKLLLTMFMGMPCRKLPRQGFWHFQL4MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWLECNGAILARHDLGSARSQLTATSAFRVQAILLPQPPKtruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetruetrue