NU2M_HUMAN
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 03-AUG-2022, entry version 201.
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 + 5 H(+)(in) + NADH = a ubiquinol + 4 H(+)(out) +
CC NAD(+); 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};
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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 PDBsum; 5XTC; -.
DR PDBsum; 5XTD; -.
DR PDBsum; 5XTH; -.
DR PDBsum; 5XTI; -.
DR AlphaFoldDB; P03891; -.
DR SMR; P03891; -.
DR BioGRID; 110632; 22.
DR ComplexPortal; CPX-577; Mitochondrial respiratory chain complex I.
DR CORUM; P03891; -.
DR IntAct; P03891; 10.
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 EPD; P03891; -.
DR jPOST; P03891; -.
DR MassIVE; P03891; -.
DR PaxDb; P03891; -.
DR PeptideAtlas; P03891; -.
DR PRIDE; P03891; -.
DR ProteomicsDB; 51612; -.
DR Antibodypedia; 47876; 63 antibodies from 19 providers.
DR DNASU; 4536; -.
DR Ensembl; ENST00000361453.3; ENSP00000355046.4; ENSG00000198763.3.
DR GeneID; 4536; -.
DR KEGG; hsa:4536; -.
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 neXtProt; NX_P03891; -.
DR NIAGADS; ENSG00000198763; -.
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 PharmGKB; PA31260; -.
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 OrthoDB; 1153818at2759; -.
DR PhylomeDB; P03891; -.
DR BioCyc; MetaCyc:HS17772-MON; -.
DR PathwayCommons; P03891; -.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR Reactome; R-HSA-6799198; Complex I biogenesis.
DR SignaLink; P03891; -.
DR SIGNOR; P03891; -.
DR BioGRID-ORCS; 4536; 0 hits in 1 CRISPR screen.
DR ChiTaRS; ND2; human.
DR GeneWiki; MT-ND2; -.
DR GenomeRNAi; 4536; -.
DR Pharos; P03891; Tclin.
DR PRO; PR:P03891; -.
DR Proteomes; UP000005640; Mitochondrion.
DR RNAct; P03891; protein.
DR Bgee; ENSG00000198763; Expressed in subcutaneous adipose tissue and 93 other tissues.
DR ExpressionAtlas; P03891; baseline and differential.
DR Genevisible; P03891; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:ComplexPortal.
DR GO; GO:0005747; C:mitochondrial respiratory chain complex I; IDA:UniProtKB.
DR GO; GO:0014069; C:postsynaptic density; IEA:Ensembl.
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; IC: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; IC:ComplexPortal.
DR GO; GO:0072593; P:reactive oxygen species metabolic process; IEA:Ensembl.
DR InterPro; IPR010933; NADH_DH_su2_C.
DR InterPro; IPR003917; NADH_UbQ_OxRdtase_chain2.
DR InterPro; IPR001750; ND/Mrp_mem.
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; Reference proteome;
KW Respiratory chain; Translocase; Transmembrane; Transmembrane helix;
KW 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; unknown pathological significance;
FT decrease in enzyme activity and impaired assembly of
FT complex I; 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:rs370378529)"
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
