ID NU2M_HUMAN Reviewed; 347 AA. AC P03891; Q34769; Q9TGI0; Q9TGI1; Q9TGI2; Q9TGI3; Q9TGI4; DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot. DT 01-DEC-1992, sequence version 2. DT 28-JAN-2026, entry version 218. DE RecName: Full=NADH-ubiquinone oxidoreductase chain 2 {ECO:0000305}; DE EC=7.1.1.2 {ECO:0000269|PubMed:16996290}; DE AltName: Full=NADH dehydrogenase subunit 2; GN Name=MT-ND2 {ECO:0000312|HGNC:HGNC:7456}; Synonyms=MTND2, NADH2, ND2; OS Homo sapiens (Human). OG Mitochondrion. OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=7219534; DOI=10.1038/290457a0; RA Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H.L., Coulson A.R., RA Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., RA Smith A.J.H., Staden R., Young I.G.; RT "Sequence and organization of the human mitochondrial genome."; RL Nature 290:457-465(1981). RN [2] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=6260957; DOI=10.1016/0022-2836(80)90196-5; RA Sanger F., Coulson A.R., Barrell B.G., Smith A.J.H., Roe B.A.; RT "Cloning in single-stranded bacteriophage as an aid to rapid DNA RT sequencing."; RL J. Mol. Biol. 143:161-178(1980). RN [3] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS VAL-69; SER-88; ASP-150; RP MET-237; THR-265; VAL-265; THR-278 AND ALA-333. RX PubMed=9475751; DOI=10.1093/genetics/148.1.409; RA Wise C.A., Sraml M., Easteal S.; RT "Departure from neutrality at the mitochondrial NADH dehydrogenase subunit RT 2 gene in humans, but not in chimpanzees."; RL Genetics 148:409-421(1998). RN [4] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ILE-43; LEU-325 AND RP THR-331. RC TISSUE=Placenta; RX PubMed=7530363; DOI=10.1073/pnas.92.2.532; RA Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N.; RT "Recent African origin of modern humans revealed by complete sequences of RT hominoid mitochondrial DNAs."; RL Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995). RN [5] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=12949126; DOI=10.1093/molbev/msg230; RA Moilanen J.S., Finnila S., Majamaa K.; RT "Lineage-specific selection in human mtDNA: lack of polymorphisms in a RT segment of MTND5 gene in haplogroup J."; RL Mol. Biol. Evol. 20:2132-2142(2003). RN [6] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=11130070; DOI=10.1038/35047064; RA Ingman M., Kaessmann H., Paeaebo S., Gyllensten U.; RT "Mitochondrial genome variation and the origin of modern humans."; RL Nature 408:708-713(2000). RN [7] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=12840039; DOI=10.1101/gr.686603; RA Ingman M., Gyllensten U.; RT "Mitochondrial genome variation and evolutionary history of Australian and RT New Guinean aborigines."; RL Genome Res. 13:1600-1606(2003). RN [8] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA]. RX PubMed=14760490; DOI=10.1007/s00414-004-0427-6; RA Coble M.D., Just R.S., O'Callaghan J.E., Letmanyi I.H., Peterson C.T., RA Irwin J.A., Parsons T.J.; RT "Single nucleotide polymorphisms over the entire mtDNA genome that increase RT the power of forensic testing in Caucasians."; RL Int. J. Legal Med. 118:137-146(2004). RN [9] RP IDENTIFICATION OF PROTEIN. RX PubMed=3921850; DOI=10.1038/314592a0; RA Chomyn A., Mariottini P., Cleeter M.W.J., Ragan C.I., Matsuno-Yagi A., RA Hatefi Y., Doolittle R.F., Attardi G.; RT "Six unidentified reading frames of human mitochondrial DNA encode RT components of the respiratory-chain NADH dehydrogenase."; RL Nature 314:592-597(1985). RN [10] RP IDENTIFICATION IN THE NADH-UBIQUINONE OXIDOREDUCTASE COMPLEX, AND RP IDENTIFICATION BY MASS SPECTROMETRY. RX PubMed=12611891; DOI=10.1074/jbc.c300064200; RA Murray J., Zhang B., Taylor S.W., Oglesbee D., Fahy E., Marusich M.F., RA Ghosh S.S., Capaldi R.A.; RT "The subunit composition of the human NADH dehydrogenase obtained by rapid RT one-step immunopurification."; RL J. Biol. Chem. 278:13619-13622(2003). RN [11] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RC TISSUE=Leukemic T-cell; RX PubMed=19690332; DOI=10.1126/scisignal.2000007; RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., RA Rodionov V., Han D.K.; RT "Quantitative phosphoproteomic analysis of T cell receptor signaling RT reveals system-wide modulation of protein-protein interactions."; RL Sci. Signal. 2:RA46-RA46(2009). RN [12] RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. RX PubMed=25944712; DOI=10.1002/pmic.201400617; RA Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D., RA Lane L., Bairoch A., Van Dorsselaer A., Carapito C.; RT "N-terminome analysis of the human mitochondrial proteome."; RL Proteomics 15:2519-2524(2015). RN [13] RP INTERACTION WITH TMEM242. RX PubMed=33753518; DOI=10.1073/pnas.2100558118; RA Carroll J., He J., Ding S., Fearnley I.M., Walker J.E.; RT "TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase RT and interact with assembly factors for complex I."; RL Proc. Natl. Acad. Sci. U.S.A. 118:0-0(2021). RN [14] RP VARIANT LHON ASP-150. RX PubMed=1900003; DOI=10.1016/0006-291x(91)91567-v; RA Johns D.R., Berman J.; RT "Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's RT hereditary optic neuropathy."; RL Biochem. Biophys. Res. Commun. 174:1324-1330(1991). RN [15] RP VARIANTS LEU-42; ARG-63; ALA-119; PRO-148; SER-150; THR-159 AND ALA-185. RX PubMed=1757091; DOI=10.1007/bf00206061; RA Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., RA Utthanaphol P., Byrne E.; RT "Normal variants of human mitochondrial DNA and translation products: the RT building of a reference data base."; RL Hum. Genet. 88:139-145(1991). RN [16] RP VARIANT LHON SER-259. RX PubMed=1732158; DOI=10.1093/genetics/130.1.163; RA Brown M.D., Voljavec A.S., Lott M.T., Torroni A., Yang C.C., Wallace D.C.; RT "Mitochondrial DNA complex I and III mutations associated with Leber's RT hereditary optic neuropathy."; RL Genetics 130:163-173(1992). RN [17] RP VARIANT AD-MT SER-331. RX PubMed=1370613; DOI=10.1016/s0006-291x(05)80136-6; RA Lin F.-H., Lin R., Wisniewski H.M., Hwang Y.-W., Grundke-Iqbal I., RA Healy-Louie G., Iqbal K.; RT "Detection of point mutations in codon 331 of mitochondrial NADH RT dehydrogenase subunit 2 in Alzheimer's brains."; RL Biochem. Biophys. Res. Commun. 182:238-246(1992). RN [18] RP VARIANT THR-57. RX PubMed=9461455; DOI=10.1093/nar/26.4.967; RA Rieder M.J., Taylor S.L., Tobe V.O., Nickerson D.A.; RT "Automating the identification of DNA variations using quality-based RT fluorescence re-sequencing: analysis of the human mitochondrial genome."; RL Nucleic Acids Res. 26:967-973(1998). RN [19] RP VARIANT LS PRO-71, CHARACTERIZATION OF LS VARIANT PRO-71, FUNCTION, AND RP CATALYTIC ACTIVITY. RX PubMed=16996290; DOI=10.1016/j.ymgme.2006.08.003; RA Ugalde C., Hinttala R., Timal S., Smeets R., Rodenburg R.J., Uusimaa J., RA van Heuvel L.P., Nijtmans L.G., Majamaa K., Smeitink J.A.; RT "Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh RT syndrome."; RL Mol. Genet. Metab. 90:10-14(2007). CC -!- FUNCTION: Core subunit of the mitochondrial membrane respiratory chain CC NADH dehydrogenase (Complex I) which catalyzes electron transfer from CC NADH through the respiratory chain, using ubiquinone as an electron CC acceptor (PubMed:16996290). Essential for the catalytic activity and CC assembly of complex I (PubMed:16996290). {ECO:0000269|PubMed:16996290}. CC -!- CATALYTIC ACTIVITY: CC Reaction=a ubiquinone + NADH + 5 H(+)(in) = a ubiquinol + NAD(+) + 4 CC H(+)(out); Xref=Rhea:RHEA:29091, Rhea:RHEA-COMP:9565, Rhea:RHEA- CC COMP:9566, ChEBI:CHEBI:15378, ChEBI:CHEBI:16389, ChEBI:CHEBI:17976, CC ChEBI:CHEBI:57540, ChEBI:CHEBI:57945; EC=7.1.1.2; CC Evidence={ECO:0000269|PubMed:16996290}; CC -!- SUBUNIT: Core subunit of respiratory chain NADH dehydrogenase (Complex CC I) which is composed of 45 different subunits. Interacts with TMEM242 CC (PubMed:33753518). {ECO:0000269|PubMed:12611891, CC ECO:0000269|PubMed:33753518}. CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane CC {ECO:0000250|UniProtKB:P03892}; Multi-pass membrane protein CC {ECO:0000255}. CC -!- DISEASE: Leber hereditary optic neuropathy (LHON) [MIM:535000]: A CC maternally inherited form of Leber hereditary optic neuropathy, a CC mitochondrial disease resulting in bilateral painless loss of central CC vision due to selective degeneration of the retinal ganglion cells and CC their axons. The disorder shows incomplete penetrance and male CC predominance. Cardiac conduction defects and neurological defects have CC also been described in some LHON patients. LHON results from primary CC mitochondrial DNA mutations affecting the respiratory chain complexes. CC {ECO:0000269|PubMed:1732158, ECO:0000269|PubMed:1900003}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- DISEASE: Alzheimer disease mitochondrial (AD-MT) [MIM:502500]: CC Alzheimer disease is a neurodegenerative disorder characterized by CC progressive dementia, loss of cognitive abilities, and deposition of CC fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, CC extracellular amyloid plaques and vascular amyloid deposits. The major CC constituents of these plaques are neurotoxic amyloid-beta protein 40 CC and amyloid-beta protein 42, that are produced by the proteolysis of CC the transmembrane APP protein. The cytotoxic C-terminal fragments CC (CTFs) and the caspase-cleaved products, such as C31, are also CC implicated in neuronal death. {ECO:0000269|PubMed:1370613}. CC Note=Disease susceptibility may be associated with variants affecting CC the gene represented in this entry. CC -!- DISEASE: Leigh syndrome (LS) [MIM:256000]: An early-onset progressive CC neurodegenerative disorder characterized by the presence of focal, CC bilateral lesions in one or more areas of the central nervous system CC including the brainstem, thalamus, basal ganglia, cerebellum and spinal CC cord. Clinical features depend on which areas of the central nervous CC system are involved and include subacute onset of psychomotor CC retardation, hypotonia, ataxia, weakness, vision loss, eye movement CC abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:16996290}. CC Note=Disease susceptibility is associated with variants affecting the CC gene represented in this entry. CC -!- SIMILARITY: Belongs to the complex I subunit 2 family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=AAA65502.1; Type=Erroneous initiation; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; J01415; AAB58944.1; -; Genomic_DNA. DR EMBL; V00662; CAA24027.1; -; Genomic_DNA. DR EMBL; M10546; AAA65502.1; ALT_INIT; Genomic_DNA. DR EMBL; D38112; BAA07291.1; -; Genomic_DNA. DR EMBL; AF014882; AAC25441.1; -; Genomic_DNA. DR EMBL; AF014884; AAC25443.1; -; Genomic_DNA. DR EMBL; AF014885; AAC25444.1; -; Genomic_DNA. DR EMBL; AF014887; AAC25446.1; -; Genomic_DNA. DR EMBL; AF014889; AAC25448.1; -; Genomic_DNA. DR EMBL; AF014890; AAC25449.1; -; Genomic_DNA. DR EMBL; AF014891; AAC25450.1; -; Genomic_DNA. DR EMBL; AF014892; AAC25451.1; -; Genomic_DNA. DR EMBL; AF014895; AAC25454.1; -; Genomic_DNA. DR EMBL; AF014896; AAC25455.2; -; Genomic_DNA. DR EMBL; AF014897; AAC25456.1; -; Genomic_DNA. DR EMBL; AF014898; AAC25457.1; -; Genomic_DNA. DR EMBL; AF014899; AAC25458.2; -; Genomic_DNA. DR EMBL; AF014900; AAC25459.1; -; Genomic_DNA. DR EMBL; AF014901; AAC25460.1; -; Genomic_DNA. DR EMBL; AY339402; AAP89037.1; -; Genomic_DNA. DR EMBL; AY339403; AAP89050.1; -; Genomic_DNA. DR EMBL; AY339404; AAP89063.1; -; Genomic_DNA. DR EMBL; AY339405; AAP89076.1; -; Genomic_DNA. DR EMBL; AY339406; AAP89089.1; -; Genomic_DNA. DR EMBL; AY339407; AAP89102.1; -; Genomic_DNA. DR EMBL; AY339408; AAP89115.1; -; Genomic_DNA. DR EMBL; AY339409; AAP89128.1; -; Genomic_DNA. DR EMBL; AY339410; AAP89141.1; -; Genomic_DNA. DR EMBL; AY339411; AAP89154.1; -; Genomic_DNA. DR EMBL; AY339412; AAP89167.1; -; Genomic_DNA. DR EMBL; AY339413; AAP89180.1; -; Genomic_DNA. DR EMBL; AY339414; AAP89193.1; -; Genomic_DNA. DR EMBL; AY339415; AAP89206.1; -; Genomic_DNA. DR EMBL; AY339416; AAP89219.1; -; Genomic_DNA. DR EMBL; AY339417; AAP89232.1; -; Genomic_DNA. DR EMBL; AY339418; AAP89245.1; -; Genomic_DNA. DR EMBL; AY339419; AAP89258.1; -; Genomic_DNA. DR EMBL; AY339420; AAP89271.1; -; Genomic_DNA. DR EMBL; AY339421; AAP89284.1; -; Genomic_DNA. DR EMBL; AY339422; AAP89297.1; -; Genomic_DNA. DR EMBL; AY339423; AAP89310.1; -; Genomic_DNA. DR EMBL; AY339424; AAP89323.1; -; Genomic_DNA. DR EMBL; AY339425; AAP89336.1; -; Genomic_DNA. DR EMBL; AY339426; AAP89349.1; -; Genomic_DNA. DR EMBL; AY339427; AAP89362.1; -; Genomic_DNA. DR EMBL; AY339428; AAP89375.1; -; Genomic_DNA. DR EMBL; AY339429; AAP89388.1; -; Genomic_DNA. DR EMBL; AY339430; AAP89401.1; -; Genomic_DNA. DR EMBL; AY339431; AAP89414.1; -; Genomic_DNA. DR EMBL; AY339432; AAP89427.1; -; Genomic_DNA. DR EMBL; AY339433; AAP89440.1; -; Genomic_DNA. DR EMBL; AY339446; AAP89609.1; -; Genomic_DNA. DR EMBL; AY339447; AAP89622.1; -; Genomic_DNA. DR EMBL; AY339448; AAP89635.1; -; Genomic_DNA. DR EMBL; AY339449; AAP89648.1; -; Genomic_DNA. DR EMBL; AY339450; AAP89661.1; -; Genomic_DNA. DR EMBL; AY339451; AAP89674.1; -; Genomic_DNA. DR EMBL; AY339452; AAP89687.1; -; Genomic_DNA. DR EMBL; AY339453; AAP89700.1; -; Genomic_DNA. DR EMBL; AY339454; AAP89713.1; -; Genomic_DNA. DR EMBL; AY339455; AAP89726.1; -; Genomic_DNA. DR EMBL; AY339456; AAP89739.1; -; Genomic_DNA. DR EMBL; AY339457; AAP89752.1; -; Genomic_DNA. DR EMBL; AY339458; AAP89765.1; -; Genomic_DNA. DR EMBL; AY339459; AAP89778.1; -; Genomic_DNA. DR EMBL; AY339497; AAP90272.1; -; Genomic_DNA. DR EMBL; AY339498; AAP90285.1; -; Genomic_DNA. DR EMBL; AY339499; AAP90298.1; -; Genomic_DNA. DR EMBL; AY339500; AAP90311.1; -; Genomic_DNA. DR EMBL; AY339501; AAP90324.1; -; Genomic_DNA. DR EMBL; AY339502; AAP90337.1; -; Genomic_DNA. DR EMBL; AY339503; AAP90350.1; -; Genomic_DNA. DR EMBL; AY339504; AAP90363.1; -; Genomic_DNA. DR EMBL; AY339505; AAP90376.1; -; Genomic_DNA. DR EMBL; AY339506; AAP90389.1; -; Genomic_DNA. DR EMBL; AY339507; AAP90402.1; -; Genomic_DNA. DR EMBL; AY339508; AAP90415.1; -; Genomic_DNA. DR EMBL; AY339509; AAP90428.1; -; Genomic_DNA. DR EMBL; AY339510; AAP90441.1; -; Genomic_DNA. DR EMBL; AY339511; AAP90454.1; -; Genomic_DNA. DR EMBL; AY339512; AAP90467.1; -; Genomic_DNA. DR EMBL; AY339513; AAP90480.1; -; Genomic_DNA. DR EMBL; AY339514; AAP90493.1; -; Genomic_DNA. DR EMBL; AY339515; AAP90506.1; -; Genomic_DNA. DR EMBL; AY339516; AAP90519.1; -; Genomic_DNA. DR EMBL; AY339517; AAP90532.1; -; Genomic_DNA. DR EMBL; AY339518; AAP90545.1; -; Genomic_DNA. DR EMBL; AY339519; AAP90558.1; -; Genomic_DNA. DR EMBL; AY339520; AAP90571.1; -; Genomic_DNA. DR EMBL; AY339521; AAP90584.1; -; Genomic_DNA. DR EMBL; AY339522; AAP90597.1; -; Genomic_DNA. DR EMBL; AY339523; AAP90610.1; -; Genomic_DNA. DR EMBL; AY339524; AAP90623.1; -; Genomic_DNA. DR EMBL; AY339525; AAP90636.1; -; Genomic_DNA. DR EMBL; AY339526; AAP90649.1; -; Genomic_DNA. DR EMBL; AY339527; AAP90662.1; -; Genomic_DNA. DR EMBL; AY339528; AAP90675.1; -; Genomic_DNA. DR EMBL; AY339529; AAP90688.1; -; Genomic_DNA. DR EMBL; AY339530; AAP90701.1; -; Genomic_DNA. DR EMBL; AY339531; AAP90714.1; -; Genomic_DNA. DR EMBL; AY339532; AAP90727.1; -; Genomic_DNA. DR EMBL; AY339533; AAP90740.1; -; Genomic_DNA. DR EMBL; AY339534; AAP90753.1; -; Genomic_DNA. DR EMBL; AY339535; AAP90766.1; -; Genomic_DNA. DR EMBL; AY339536; AAP90779.1; -; Genomic_DNA. DR EMBL; AY339537; AAP90792.1; -; Genomic_DNA. DR EMBL; AY339538; AAP90805.1; -; Genomic_DNA. DR EMBL; AY339539; AAP90818.1; -; Genomic_DNA. DR EMBL; AY339540; AAP90831.1; -; Genomic_DNA. DR EMBL; AY339541; AAP90844.1; -; Genomic_DNA. DR EMBL; AY339542; AAP90857.1; -; Genomic_DNA. DR EMBL; AY339543; AAP90870.1; -; Genomic_DNA. DR EMBL; AY339545; AAP90896.1; -; Genomic_DNA. DR EMBL; AY339546; AAP90909.1; -; Genomic_DNA. DR EMBL; AY339547; AAP90922.1; -; Genomic_DNA. DR EMBL; AY339548; AAP90935.1; -; Genomic_DNA. DR EMBL; AY339549; AAP90948.1; -; Genomic_DNA. DR EMBL; AY339550; AAP90961.1; -; Genomic_DNA. DR EMBL; AY339551; AAP90974.1; -; Genomic_DNA. DR EMBL; AY339552; AAP90987.1; -; Genomic_DNA. DR EMBL; AY339553; AAP91000.1; -; Genomic_DNA. DR EMBL; AY339554; AAP91013.1; -; Genomic_DNA. DR EMBL; AY339555; AAP91026.1; -; Genomic_DNA. DR EMBL; AY339556; AAP91039.1; -; Genomic_DNA. DR EMBL; AY339557; AAP91052.1; -; Genomic_DNA. DR EMBL; AY339558; AAP91065.1; -; Genomic_DNA. DR EMBL; AY339559; AAP91078.1; -; Genomic_DNA. DR EMBL; AY339560; AAP91091.1; -; Genomic_DNA. DR EMBL; AY339561; AAP91104.1; -; Genomic_DNA. DR EMBL; AY339562; AAP91117.1; -; Genomic_DNA. DR EMBL; AY339563; AAP91130.1; -; Genomic_DNA. DR EMBL; AY339564; AAP91143.1; -; Genomic_DNA. DR EMBL; AY339565; AAP91156.1; -; Genomic_DNA. DR EMBL; AY339577; AAP91312.1; -; Genomic_DNA. DR EMBL; AY339578; AAP91325.1; -; Genomic_DNA. DR EMBL; AY339579; AAP91338.1; -; Genomic_DNA. DR EMBL; AY339580; AAP91351.1; -; Genomic_DNA. DR EMBL; AY339583; AAP91390.1; -; Genomic_DNA. DR EMBL; AY339584; AAP91403.1; -; Genomic_DNA. DR EMBL; AY339585; AAP91416.1; -; Genomic_DNA. DR EMBL; AY339586; AAP91429.1; -; Genomic_DNA. DR EMBL; AY339587; AAP91442.1; -; Genomic_DNA. DR EMBL; AY339588; AAP91455.1; -; Genomic_DNA. DR EMBL; AY339589; AAP91468.1; -; Genomic_DNA. DR EMBL; AY339590; AAP91481.1; -; Genomic_DNA. DR EMBL; AY339591; AAP91494.1; -; Genomic_DNA. DR EMBL; AY339592; AAP91507.1; -; Genomic_DNA. DR EMBL; AY339593; AAP91520.1; -; Genomic_DNA. DR EMBL; AF346963; AAK17208.1; -; Genomic_DNA. DR EMBL; AF346964; AAK17221.1; -; Genomic_DNA. DR EMBL; AF346965; AAK17234.1; -; Genomic_DNA. DR EMBL; AF346968; AAK17273.1; -; Genomic_DNA. DR EMBL; AF346970; AAK17299.1; -; Genomic_DNA. DR EMBL; AF346974; AAK17351.1; -; Genomic_DNA. DR EMBL; AF346975; AAK17364.1; -; Genomic_DNA. DR EMBL; AF346976; AAK17377.1; -; Genomic_DNA. DR EMBL; AF346977; AAK17390.1; -; Genomic_DNA. DR EMBL; AF346978; AAK17403.1; -; Genomic_DNA. DR EMBL; AF346979; AAK17416.1; -; Genomic_DNA. DR EMBL; AF346980; AAK17429.1; -; Genomic_DNA. DR EMBL; AF346981; AAK17442.1; -; Genomic_DNA. DR EMBL; AF346983; AAK17468.1; -; Genomic_DNA. DR EMBL; AF346988; AAK17533.1; -; Genomic_DNA. DR EMBL; AF346991; AAK17572.1; -; Genomic_DNA. DR EMBL; AF346992; AAK17585.1; -; Genomic_DNA. DR EMBL; AF346994; AAK17611.1; -; Genomic_DNA. DR EMBL; AF346995; AAK17624.1; -; Genomic_DNA. DR EMBL; AF346997; AAK17650.1; -; Genomic_DNA. DR EMBL; AF347000; AAK17689.1; -; Genomic_DNA. DR EMBL; AF347001; AAK17702.1; -; Genomic_DNA. DR EMBL; AF347002; AAK17715.1; -; Genomic_DNA. DR EMBL; AF347004; AAK17741.1; -; Genomic_DNA. DR EMBL; AF347005; AAK17754.1; -; Genomic_DNA. DR EMBL; AF347006; AAK17767.1; -; Genomic_DNA. DR EMBL; AF347007; AAK17780.1; -; Genomic_DNA. DR EMBL; AF347011; AAK17832.1; -; Genomic_DNA. DR EMBL; AF347012; AAK17845.1; -; Genomic_DNA. DR EMBL; AF347013; AAK17858.1; -; Genomic_DNA. DR EMBL; AF347014; AAK17871.1; -; Genomic_DNA. DR EMBL; AF347015; AAK17884.1; -; Genomic_DNA. DR EMBL; AY289051; AAP47881.1; -; Genomic_DNA. DR EMBL; AY289053; AAP47907.1; -; Genomic_DNA. DR EMBL; AY289054; AAP47920.1; -; Genomic_DNA. DR EMBL; AY289055; AAP47933.1; -; Genomic_DNA. DR EMBL; AY289057; AAP47959.1; -; Genomic_DNA. DR EMBL; AY289061; AAP48011.1; -; Genomic_DNA. DR EMBL; AY289062; AAP48024.1; -; Genomic_DNA. DR EMBL; AY289063; AAP48037.1; -; Genomic_DNA. DR EMBL; AY289065; AAP48063.1; -; Genomic_DNA. DR EMBL; AY289068; AAP48102.1; -; Genomic_DNA. DR EMBL; AY289069; AAP48115.1; -; Genomic_DNA. DR EMBL; AY289071; AAP48141.1; -; Genomic_DNA. DR EMBL; AY289072; AAP48154.1; -; Genomic_DNA. DR EMBL; AY289073; AAP48167.1; -; Genomic_DNA. DR EMBL; AY289074; AAP48180.1; -; Genomic_DNA. DR EMBL; AY289076; AAP48206.1; -; Genomic_DNA. DR EMBL; AY289077; AAP48219.1; -; Genomic_DNA. DR EMBL; AY289079; AAP48245.1; -; Genomic_DNA. DR EMBL; AY289083; AAP48297.1; -; Genomic_DNA. DR EMBL; AY289084; AAP48310.1; -; Genomic_DNA. DR EMBL; AY289086; AAP48336.1; -; Genomic_DNA. DR EMBL; AY289087; AAP48349.1; -; Genomic_DNA. DR EMBL; AY289088; AAP48362.1; -; Genomic_DNA. DR EMBL; AY289089; AAP48375.1; -; Genomic_DNA. DR EMBL; AY289091; AAP48401.1; -; Genomic_DNA. DR EMBL; AY289092; AAP48414.1; -; Genomic_DNA. DR EMBL; AY289094; AAP48439.1; -; Genomic_DNA. DR EMBL; AY289099; AAP48504.1; -; Genomic_DNA. DR EMBL; AY289100; AAP48517.1; -; Genomic_DNA. DR EMBL; AY289101; AAP48530.1; -; Genomic_DNA. DR EMBL; AY289102; AAP48543.1; -; Genomic_DNA. DR EMBL; AY495090; AAR92497.1; -; Genomic_DNA. DR EMBL; AY495091; AAR92510.1; -; Genomic_DNA. DR EMBL; AY495092; AAR92523.1; -; Genomic_DNA. DR EMBL; AY495093; AAR92536.1; -; Genomic_DNA. DR EMBL; AY495095; AAR92562.1; -; Genomic_DNA. DR EMBL; AY495096; AAR92575.1; -; Genomic_DNA. DR EMBL; AY495097; AAR92588.1; -; Genomic_DNA. DR EMBL; AY495098; AAR92601.1; -; Genomic_DNA. DR EMBL; AY495099; AAR92614.1; -; Genomic_DNA. DR EMBL; AY495100; AAR92627.1; -; Genomic_DNA. DR EMBL; AY495101; AAR92640.1; -; Genomic_DNA. DR EMBL; AY495102; AAR92653.1; -; Genomic_DNA. DR EMBL; AY495103; AAR92666.1; -; Genomic_DNA. DR EMBL; AY495104; AAR92679.1; -; Genomic_DNA. DR EMBL; AY495105; AAR92692.1; -; Genomic_DNA. DR EMBL; AY495106; AAR92705.1; -; Genomic_DNA. DR EMBL; AY495107; AAR92718.1; -; Genomic_DNA. DR EMBL; AY495108; AAR92731.1; -; Genomic_DNA. DR EMBL; AY495109; AAR92744.1; -; Genomic_DNA. DR EMBL; AY495110; AAR92757.1; -; Genomic_DNA. DR EMBL; AY495111; AAR92770.1; -; Genomic_DNA. DR EMBL; AY495113; AAR92796.1; -; Genomic_DNA. DR EMBL; AY495114; AAR92809.1; -; Genomic_DNA. DR EMBL; AY495115; AAR92822.1; -; Genomic_DNA. DR EMBL; AY495116; AAR92835.1; -; Genomic_DNA. DR EMBL; AY495117; AAR92848.1; -; Genomic_DNA. DR EMBL; AY495118; AAR92861.1; -; Genomic_DNA. DR EMBL; AY495119; AAR92874.1; -; Genomic_DNA. DR EMBL; AY495120; AAR92887.1; -; Genomic_DNA. DR EMBL; AY495121; AAR92900.1; -; Genomic_DNA. DR EMBL; AY495122; AAR92913.1; -; Genomic_DNA. DR EMBL; AY495123; AAR92926.1; -; Genomic_DNA. DR EMBL; AY495124; AAR92939.1; -; Genomic_DNA. DR EMBL; AY495125; AAR92952.1; -; Genomic_DNA. DR EMBL; AY495126; AAR92965.1; -; Genomic_DNA. DR EMBL; AY495127; AAR92978.1; -; Genomic_DNA. DR EMBL; AY495128; AAR92991.1; -; Genomic_DNA. DR EMBL; AY495129; AAR93004.1; -; Genomic_DNA. DR EMBL; AY495130; AAR93017.1; -; Genomic_DNA. DR EMBL; AY495131; AAR93030.1; -; Genomic_DNA. DR EMBL; AY495132; AAR93043.1; -; Genomic_DNA. DR EMBL; AY495133; AAR93056.1; -; Genomic_DNA. DR EMBL; AY495135; AAR93082.1; -; Genomic_DNA. DR EMBL; AY495136; AAR93095.1; -; Genomic_DNA. DR EMBL; AY495137; AAR93108.1; -; Genomic_DNA. DR EMBL; AY495138; AAR93121.1; -; Genomic_DNA. DR EMBL; AY495139; AAR93134.1; -; Genomic_DNA. DR EMBL; AY495140; AAR93147.1; -; Genomic_DNA. DR EMBL; AY495141; AAR93160.1; -; Genomic_DNA. DR EMBL; AY495142; AAR93173.1; -; Genomic_DNA. DR EMBL; AY495143; AAR93186.1; -; Genomic_DNA. DR EMBL; AY495144; AAR93199.1; -; Genomic_DNA. DR EMBL; AY495145; AAR93212.1; -; Genomic_DNA. DR EMBL; AY495146; AAR93225.1; -; Genomic_DNA. DR EMBL; AY495147; AAR93238.1; -; Genomic_DNA. DR EMBL; AY495148; AAR93251.1; -; Genomic_DNA. DR EMBL; AY495149; AAR93264.1; -; Genomic_DNA. DR EMBL; AY495150; AAR93277.1; -; Genomic_DNA. DR EMBL; AY495151; AAR93290.1; -; Genomic_DNA. DR EMBL; AY495152; AAR93303.1; -; Genomic_DNA. DR EMBL; AY495153; AAR93316.1; -; Genomic_DNA. DR EMBL; AY495154; AAR93329.1; -; Genomic_DNA. DR EMBL; AY495155; AAR93342.1; -; Genomic_DNA. DR EMBL; AY495156; AAR93355.1; -; Genomic_DNA. DR EMBL; AY495157; AAR93368.1; -; Genomic_DNA. DR EMBL; AY495158; AAR93381.1; -; Genomic_DNA. DR EMBL; AY495159; AAR93394.1; -; Genomic_DNA. DR EMBL; AY495160; AAR93407.1; -; Genomic_DNA. DR EMBL; AY495161; AAR93420.1; -; Genomic_DNA. DR EMBL; AY495162; AAR93433.1; -; Genomic_DNA. DR EMBL; AY495163; AAR93446.1; -; Genomic_DNA. DR EMBL; AY495164; AAR93459.1; -; Genomic_DNA. DR EMBL; AY495165; AAR93472.1; -; Genomic_DNA. DR EMBL; AY495166; AAR93485.1; -; Genomic_DNA. DR EMBL; AY495167; AAR93498.1; -; Genomic_DNA. DR EMBL; AY495168; AAR93511.1; -; Genomic_DNA. DR EMBL; AY495169; AAR93524.1; -; Genomic_DNA. DR EMBL; AY495170; AAR93537.1; -; Genomic_DNA. DR EMBL; AY495171; AAR93550.1; -; Genomic_DNA. DR EMBL; AY495172; AAR93563.1; -; Genomic_DNA. DR EMBL; AY495173; AAR93576.1; -; Genomic_DNA. DR EMBL; AY495174; AAR93589.1; -; Genomic_DNA. DR EMBL; AY495175; AAR93602.1; -; Genomic_DNA. DR EMBL; AY495176; AAR93615.1; -; Genomic_DNA. DR EMBL; AY495177; AAR93628.1; -; Genomic_DNA. DR EMBL; AY495178; AAR93641.1; -; Genomic_DNA. DR EMBL; AY495179; AAR93654.1; -; Genomic_DNA. DR EMBL; AY495180; AAR93667.1; -; Genomic_DNA. DR EMBL; AY495181; AAR93680.1; -; Genomic_DNA. DR EMBL; AY495182; AAR93693.1; -; Genomic_DNA. DR EMBL; AY495183; AAR93706.1; -; Genomic_DNA. DR EMBL; AY495184; AAR93719.1; -; Genomic_DNA. DR EMBL; AY495185; AAR93732.1; -; Genomic_DNA. DR EMBL; AY495186; AAR93745.1; -; Genomic_DNA. DR EMBL; AY495187; AAR93758.1; -; Genomic_DNA. DR EMBL; AY495188; AAR93771.1; -; Genomic_DNA. DR EMBL; AY495190; AAR93797.1; -; Genomic_DNA. DR EMBL; AY495191; AAR93810.1; -; Genomic_DNA. DR EMBL; AY495192; AAR93823.1; -; Genomic_DNA. DR EMBL; AY495194; AAR93849.1; -; Genomic_DNA. DR EMBL; AY495195; AAR93862.1; -; Genomic_DNA. DR EMBL; AY495196; AAR93875.1; -; Genomic_DNA. DR EMBL; AY495197; AAR93888.1; -; Genomic_DNA. DR EMBL; AY495198; AAR93901.1; -; Genomic_DNA. DR EMBL; AY495199; AAR93914.1; -; Genomic_DNA. DR EMBL; AY495200; AAR93927.1; -; Genomic_DNA. DR EMBL; AY495201; AAR93940.1; -; Genomic_DNA. DR EMBL; AY495202; AAR93953.1; -; Genomic_DNA. DR EMBL; AY495203; AAR93966.1; -; Genomic_DNA. DR EMBL; AY495204; AAR93979.1; -; Genomic_DNA. DR EMBL; AY495205; AAR93992.1; -; Genomic_DNA. DR EMBL; AY495206; AAR94005.1; -; Genomic_DNA. DR EMBL; AY495207; AAR94018.1; -; Genomic_DNA. DR EMBL; AY495208; AAR94031.1; -; Genomic_DNA. DR EMBL; AY495209; AAR94044.1; -; Genomic_DNA. DR EMBL; AY495210; AAR94057.1; -; Genomic_DNA. DR EMBL; AY495211; AAR94070.1; -; Genomic_DNA. DR EMBL; AY495212; AAR94083.1; -; Genomic_DNA. DR EMBL; AY495213; AAR94096.1; -; Genomic_DNA. DR EMBL; AY495215; AAR94122.1; -; Genomic_DNA. DR EMBL; AY495216; AAR94135.1; -; Genomic_DNA. DR EMBL; AY495217; AAR94148.1; -; Genomic_DNA. DR EMBL; AY495218; AAR94161.1; -; Genomic_DNA. DR EMBL; AY495219; AAR94174.1; -; Genomic_DNA. DR EMBL; AY495220; AAR94187.1; -; Genomic_DNA. DR EMBL; AY495221; AAR94200.1; -; Genomic_DNA. DR EMBL; AY495222; AAR94213.1; -; Genomic_DNA. DR EMBL; AY495223; AAR94226.1; -; Genomic_DNA. DR EMBL; AY495224; AAR94239.1; -; Genomic_DNA. DR EMBL; AY495225; AAR94252.1; -; Genomic_DNA. DR EMBL; AY495226; AAR94265.1; -; Genomic_DNA. DR EMBL; AY495227; AAR94278.1; -; Genomic_DNA. DR EMBL; AY495228; AAR94291.1; -; Genomic_DNA. DR EMBL; AY495229; AAR94304.1; -; Genomic_DNA. DR EMBL; AY495230; AAR94317.1; -; Genomic_DNA. DR EMBL; AY495243; AAR94486.1; -; Genomic_DNA. DR EMBL; AY495245; AAR94512.1; -; Genomic_DNA. DR EMBL; AY495250; AAR94577.1; -; Genomic_DNA. DR EMBL; AY495251; AAR94590.1; -; Genomic_DNA. DR EMBL; AY495253; AAR94616.1; -; Genomic_DNA. DR EMBL; AY495254; AAR94629.1; -; Genomic_DNA. DR EMBL; AY495255; AAR94642.1; -; Genomic_DNA. DR EMBL; AY495256; AAR94655.1; -; Genomic_DNA. DR EMBL; AY495258; AAR94681.1; -; Genomic_DNA. DR EMBL; AY495259; AAR94694.1; -; Genomic_DNA. DR EMBL; AY495260; AAR94707.1; -; Genomic_DNA. DR EMBL; AY495261; AAR94720.1; -; Genomic_DNA. DR EMBL; AY495262; AAR94733.1; -; Genomic_DNA. DR EMBL; AY495263; AAR94746.1; -; Genomic_DNA. DR EMBL; AY495264; AAR94759.1; -; Genomic_DNA. DR EMBL; AY495265; AAR94772.1; -; Genomic_DNA. DR EMBL; AY495266; AAR94785.1; -; Genomic_DNA. DR EMBL; AY495306; AAR95305.1; -; Genomic_DNA. DR EMBL; AY495307; AAR95318.1; -; Genomic_DNA. DR EMBL; AY495308; AAR95331.1; -; Genomic_DNA. DR EMBL; AY495309; AAR95344.1; -; Genomic_DNA. DR EMBL; AY495310; AAR95357.1; -; Genomic_DNA. DR EMBL; AY495311; AAR95370.1; -; Genomic_DNA. DR EMBL; AY495312; AAR95383.1; -; Genomic_DNA. DR EMBL; AY495313; AAR95396.1; -; Genomic_DNA. DR EMBL; AY495314; AAR95409.1; -; Genomic_DNA. DR EMBL; AY495315; AAR95422.1; -; Genomic_DNA. DR EMBL; AY495316; AAR95435.1; -; Genomic_DNA. DR EMBL; AY495317; AAR95448.1; -; Genomic_DNA. DR EMBL; AY495318; AAR95461.1; -; Genomic_DNA. DR EMBL; AY495319; AAR95474.1; -; Genomic_DNA. DR EMBL; AY495320; AAR95487.1; -; Genomic_DNA. DR EMBL; AY495321; AAR95500.1; -; Genomic_DNA. DR EMBL; AY495322; AAR95513.1; -; Genomic_DNA. DR EMBL; AY495323; AAR95526.1; -; Genomic_DNA. DR EMBL; AY495326; AAR95565.1; -; Genomic_DNA. DR EMBL; AY495327; AAR95578.1; -; Genomic_DNA. DR EMBL; AY495328; AAR95591.1; -; Genomic_DNA. DR EMBL; AY495329; AAR95604.1; -; Genomic_DNA. DR EMBL; AY495330; AAR95617.1; -; Genomic_DNA. DR EMBL; AY495302; AAR95253.1; -; Genomic_DNA. DR PIR; A00414; DNHUN2. DR RefSeq; YP_003024027.1; NC_012920.1. DR PDB; 5XTC; EM; 3.70 A; i=1-347. DR PDB; 5XTD; EM; 3.70 A; i=1-347. DR PDB; 5XTH; EM; 3.90 A; i=1-347. DR PDB; 5XTI; EM; 17.40 A; Bi/i=1-347. DR PDB; 9CWT; EM; 3.44 A; i=1-347. DR PDBsum; 5XTC; -. DR PDBsum; 5XTD; -. DR PDBsum; 5XTH; -. DR PDBsum; 5XTI; -. DR PDBsum; 9CWT; -. DR AlphaFoldDB; P03891; -. DR EMDB; EMD-45974; -. DR SMR; P03891; -. DR BioGRID; 110632; 25. DR ComplexPortal; CPX-577; Mitochondrial respiratory chain complex I. DR CORUM; P03891; -. DR FunCoup; P03891; 260. DR IntAct; P03891; 16. DR MINT; P03891; -. DR STRING; 9606.ENSP00000355046; -. DR BindingDB; P03891; -. DR ChEMBL; CHEMBL2363065; -. DR DrugBank; DB00157; NADH. DR DrugCentral; P03891; -. DR iPTMnet; P03891; -. DR PhosphoSitePlus; P03891; -. DR BioMuta; MT-ND2; -. DR DMDM; 128676; -. DR jPOST; P03891; -. DR MassIVE; P03891; -. DR PaxDb; 9606-ENSP00000355046; -. DR PeptideAtlas; P03891; -. DR ProteomicsDB; 51612; -. DR Pumba; P03891; -. DR Antibodypedia; 47876; 64 antibodies from 19 providers. DR DNASU; 4536; -. DR Ensembl; ENST00000361453.3; ENSP00000355046.4; ENSG00000198763.3. DR GeneID; 4536; -. DR KEGG; hsa:4536; -. DR AGR; HGNC:7456; -. DR ClinPGx; PA31260; -. DR CTD; 4536; -. DR DisGeNET; 4536; -. DR GeneCards; MT-ND2; -. DR GeneReviews; MT-ND2; -. DR HGNC; HGNC:7456; MT-ND2. DR HPA; ENSG00000198763; Tissue enhanced (brain, heart muscle). DR MalaCards; MT-ND2; -. DR MIM; 256000; phenotype. DR MIM; 502500; phenotype. DR MIM; 516001; gene. DR MIM; 535000; phenotype. DR OpenTargets; ENSG00000198763; -. DR Orphanet; 2609; Isolated complex I deficiency. DR Orphanet; 104; Leber hereditary optic neuropathy. DR Orphanet; 255210; Mitochondrial DNA-associated Leigh syndrome. DR VEuPathDB; HostDB:ENSG00000198763; -. DR eggNOG; KOG4668; Eukaryota. DR GeneTree; ENSGT00730000111348; -. DR HOGENOM; CLU_007100_1_3_1; -. DR InParanoid; P03891; -. DR OMA; HFWVPEV; -. DR PAN-GO; P03891; 3 GO annotations based on evolutionary models. DR PhylomeDB; P03891; -. DR BioCyc; MetaCyc:HS17772-MONOMER; -. DR PathwayCommons; P03891; -. DR Reactome; R-HSA-5419276; Mitochondrial translation termination. DR Reactome; R-HSA-611105; Respiratory electron transport. DR Reactome; R-HSA-6799198; Complex I biogenesis. DR Reactome; R-HSA-9837999; Mitochondrial protein degradation. DR SignaLink; P03891; -. DR SIGNOR; P03891; -. DR Agora; ENSG00000198763; -. DR BioGRID-ORCS; 4536; 0 hits in 2 CRISPR screens. DR ChiTaRS; ND2; human. DR GeneWiki; MT-ND2; -. DR GenomeRNAi; 4536; -. DR Pharos; P03891; Tclin. DR PRO; PR:P03891; -. DR Proteomes; UP000005640; Mitochondrion MT. DR RNAct; P03891; protein. DR Bgee; ENSG00000198763; Expressed in subcutaneous adipose tissue and 95 other cell types or tissues. DR ExpressionAtlas; P03891; baseline and differential. DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:ComplexPortal. DR GO; GO:0005739; C:mitochondrion; HTP:FlyBase. DR GO; GO:0045271; C:respiratory chain complex I; IDA:UniProtKB. DR GO; GO:0035255; F:ionotropic glutamate receptor binding; IEA:Ensembl. DR GO; GO:0008137; F:NADH dehydrogenase (ubiquinone) activity; IMP:UniProtKB. DR GO; GO:0019901; F:protein kinase binding; IEA:Ensembl. DR GO; GO:0009060; P:aerobic respiration; NAS:ComplexPortal. DR GO; GO:0006120; P:mitochondrial electron transport, NADH to ubiquinone; IMP:UniProtKB. DR GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB. DR GO; GO:0042776; P:proton motive force-driven mitochondrial ATP synthesis; NAS:ComplexPortal. DR GO; GO:0072593; P:reactive oxygen species metabolic process; IEA:Ensembl. DR GO; GO:0001666; P:response to hypoxia; IEA:Ensembl. DR InterPro; IPR050175; Complex_I_Subunit_2. DR InterPro; IPR010933; NADH_DH_su2_C. DR InterPro; IPR003917; NADH_UbQ_OxRdtase_chain2. DR InterPro; IPR001750; ND/Mrp_TM. DR PANTHER; PTHR46552; NADH-UBIQUINONE OXIDOREDUCTASE CHAIN 2; 1. DR PANTHER; PTHR46552:SF1; NADH-UBIQUINONE OXIDOREDUCTASE CHAIN 2; 1. DR Pfam; PF06444; NADH_dehy_S2_C; 1. DR Pfam; PF00361; Proton_antipo_M; 1. DR PRINTS; PR01436; NADHDHGNASE2. PE 1: Evidence at protein level; KW 3D-structure; Alzheimer disease; Amyloidosis; Disease variant; KW Electron transport; Leber hereditary optic neuropathy; Leigh syndrome; KW Membrane; Mitochondrion; Mitochondrion inner membrane; NAD; KW Neurodegeneration; Primary mitochondrial disease; KW Proteomics identification; Reference proteome; Respiratory chain; KW Translocase; Transmembrane; Transmembrane helix; Transport; Ubiquinone. FT CHAIN 1..347 FT /note="NADH-ubiquinone oxidoreductase chain 2" FT /id="PRO_0000117595" FT TRANSMEM 13..33 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 56..76 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 96..116 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 123..143 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 149..169 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 178..198 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 201..221 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 247..267 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 274..294 FT /note="Helical" FT /evidence="ECO:0000255" FT TRANSMEM 326..346 FT /note="Helical" FT /evidence="ECO:0000255" FT VARIANT 42 FT /note="P -> L" FT /evidence="ECO:0000269|PubMed:1757091" FT /id="VAR_008590" FT VARIANT 43 FT /note="V -> I (in dbSNP:rs1117207)" FT /evidence="ECO:0000269|PubMed:7530363" FT /id="VAR_011348" FT VARIANT 57 FT /note="I -> T (in dbSNP:rs41510547)" FT /evidence="ECO:0000269|PubMed:9461455" FT /id="VAR_008591" FT VARIANT 63 FT /note="Q -> R" FT /evidence="ECO:0000269|PubMed:1757091" FT /id="VAR_008592" FT VARIANT 69 FT /note="I -> V (in dbSNP:rs1556422884)" FT /evidence="ECO:0000269|PubMed:9475751" FT /id="VAR_011349" FT VARIANT 71 FT /note="L -> P (in LS; uncertain significance; decrease in FT enzyme activity and impaired assembly of complex I; FT dbSNP:rs267606889)" FT /evidence="ECO:0000269|PubMed:16996290" FT /id="VAR_084383" FT VARIANT 88 FT /note="N -> S (in dbSNP:rs201854167)" FT /evidence="ECO:0000269|PubMed:9475751" FT /id="VAR_011350" FT VARIANT 119 FT /note="T -> A (in dbSNP:rs1556422903)" FT /evidence="ECO:0000269|PubMed:1757091" FT /id="VAR_008593" FT VARIANT 148 FT /note="S -> P" FT /evidence="ECO:0000269|PubMed:1757091" FT /id="VAR_008594" FT VARIANT 150 FT /note="N -> D (in LHON; secondary mutation; does not seem FT to directly cause the disease; dbSNP:rs28357980)" FT /evidence="ECO:0000269|PubMed:1900003, FT ECO:0000269|PubMed:9475751" FT /id="VAR_004755" FT VARIANT 150 FT /note="N -> S (in dbSNP:rs879058895)" FT /evidence="ECO:0000269|PubMed:1757091" FT /id="VAR_008595" FT VARIANT 159 FT /note="I -> T" FT /evidence="ECO:0000269|PubMed:1757091" FT /id="VAR_008596" FT VARIANT 185 FT /note="T -> A" FT /evidence="ECO:0000269|PubMed:1757091" FT /id="VAR_008597" FT VARIANT 237 FT /note="L -> M (in dbSNP:rs28357984)" FT /evidence="ECO:0000269|PubMed:9475751" FT /id="VAR_011351" FT VARIANT 259 FT /note="G -> S (in LHON; rare primary mutation; FT dbSNP:rs199476115)" FT /evidence="ECO:0000269|PubMed:1732158" FT /id="VAR_004756" FT VARIANT 265 FT /note="A -> T (in dbSNP:rs1603219855)" FT /evidence="ECO:0000269|PubMed:9475751" FT /id="VAR_011352" FT VARIANT 265 FT /note="A -> V (in dbSNP:rs41320049)" FT /evidence="ECO:0000269|PubMed:9475751" FT /id="VAR_011353" FT VARIANT 278 FT /note="I -> T (in dbSNP:rs878853115)" FT /evidence="ECO:0000269|PubMed:9475751" FT /id="VAR_011354" FT VARIANT 325 FT /note="F -> L (in dbSNP:rs3020601)" FT /evidence="ECO:0000269|PubMed:7530363" FT /id="VAR_011355" FT VARIANT 331 FT /note="A -> S (in AD-MT)" FT /evidence="ECO:0000269|PubMed:1370613" FT /id="VAR_004758" FT VARIANT 331 FT /note="A -> T (in dbSNP:rs3021088)" FT /evidence="ECO:0000269|PubMed:7530363" FT /id="VAR_004757" FT VARIANT 333 FT /note="T -> A (in dbSNP:rs1603219973)" FT /evidence="ECO:0000269|PubMed:9475751" FT /id="VAR_011356" SQ SEQUENCE 347 AA; 38961 MW; C06FD982317C3F2D CRC64; MNPLAQPVIY STIFAGTLIT ALSSHWFFTW VGLEMNMLAF IPVLTKKMNP RSTEAAIKYF LTQATASMIL LMAILFNNML SGQWTMTNTT NQYSSLMIMM AMAMKLGMAP FHFWVPEVTQ GTPLTSGLLL LTWQKLAPIS IMYQISPSLN VSLLLTLSIL SIMAGSWGGL NQTQLRKILA YSSITHMGWM MAVLPYNPNM TILNLTIYII LTTTAFLLLN LNSSTTTLLL SRTWNKLTWL TPLIPSTLLS LGGLPPLTGF LPKWAIIEEF TKNNSLIIPT IMATITLLNL YFYLRLIYST SITLLPMSNN VKMKWQFEHT KPTPFLPTLI ALTTLLLPIS PFMLMIL //