NDUFS2
entrez
4720
canonical
uniprot
O75306
canonical
ensembl
ENSG00000158864
resolver
ensp
ENSP00000356972
resolver
ensp
ENSP00000376018
resolver
ensp
ENSP00000503117
resolver
ensp
ENSP00000503353
resolver
ensp
ENSP00000503946
resolver
ensp
ENSP00000504170
resolver
ensp
ENSP00000504199
resolver
enst
ENST00000678911
resolver
genesymbol
NDUFS2
resolver
hgnc
HGNC:7708
resolver
uniprot
A0A7I2V4G5
resolver
uniprot
B7Z792
resolver
uniprot
D3DVG7
resolver
uniprot
J3KPM7
resolver
uniprot
Q5VTW0
resolver
uniprot
Q969P3
resolver
uniprot
Q9UEV3
resolver
uniprot_entry
A0A7I2V4G5_HUMAN
resolver
uniprot_entry
B7Z792_HUMAN
resolver
uniprot_entry
NDUS2_HUMAN
resolver
uniprot_sec
D3DVG7
resolver
uniprot_sec
J3KPM7
resolver
uniprot_sec
Q5VTW0
resolver
uniprot_sec
Q969P3
resolver
uniprot_sec
Q9UEV3
resolver
amino_acid_sequence
MAALRALCGFRGVAAQVLRPGAGVRLPIQPSRGVRQWQPDVEWAQQFGGAVMYPSKETAHWKPPPWNDVDPPKDTIVKNITLNFGPQHPAAHGVLRLVMELSGEMVRKCDPHIGLLHRGTEKLIEYKTYLQALPYFDRLDYVSMMCNEQAYSLAVEKLLNIRPPPRAQWIRVLFGEITRLLNHIMAVTTHALDLGAMTPFFWLFEEREKMFEFYERVSGARMHAAYIRPGGVHQDLPLGLMDDIYQFSKNFSLRLDELEELLTNNRIWRNRTIDIGVVTAEEALNYGFSGVMLRGSGIQWDLRKTQPYDVYDQVEFDVPVGSRGDCYDRYLCRVEEMRQSLRIIAQCLNKMPPGEIKVDDAKVSPPKRAEMKTSMESLIHHFKLYTEGYQVPPGATYTAIEAPKGEFGVYLVSDGSSRPYRCKIKAPGFAHLAGLDKMSKGHMLADVVAIIGTQDIVFGEVDR
uniprot
proteins
disease_involvement
DISEASE: Mitochondrial complex I deficiency, nuclear type 6 (MC1DN6) [MIM:618228]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN6 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:11220739, ECO:0000269|PubMed:22036843}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Leber-like hereditary optic neuropathy, autosomal recessive 2 (LHONAR2) [MIM:620569]: An autosomal recessive form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. LHONAR2 is characterized by subacute bilateral or asymmetrical visual loss, optic nerve pseudoedema and peripapillary telangiectasia in the early phase of the disease, and eventual partial recovery in some patients. {ECO:0000269|PubMed:28031252}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
7.1.1.2
uniprot
proteins
function
FUNCTION: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:22036843, PubMed:28031252, PubMed:30922174). Essential for the catalytic activity of complex I (PubMed:22036843, PubMed:30922174). Essential for the assembly of complex I (By similarity). Redox-sensitive, critical component of the oxygen-sensing pathway in the pulmonary vasculature which plays a key role in acute pulmonary oxygen-sensing and hypoxic pulmonary vasoconstriction (PubMed:30922174). Plays an important role in carotid body sensing of hypoxia (By similarity). Essential for glia-like neural stem and progenitor cell proliferation, differentiation and subsequent oligodendrocyte or neuronal maturation (By similarity). {ECO:0000250|UniProtKB:Q91WD5, ECO:0000269|PubMed:22036843, ECO:0000269|PubMed:28031252, ECO:0000269|PubMed:30922174}.
uniprot
proteins
mass_dalton
52546
uniprot
proteins
post_translational_modification
PTM: Dimethylation at Arg-118 by NDUFAF7 takes place after NDUFS2 assembles into the complex I, leading to stabilize the early intermediate complex (PubMed:24089531, PubMed:24838397). {ECO:0000269|PubMed:24089531, ECO:0000269|PubMed:24838397}.
uniprot
proteins
protein_family
Complex I 49 kDa subunit family
uniprot
proteins
pubmed
11220739
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
19463981
uniprot
proteins
pubmed
20406883
uniprot
proteins
pubmed
21057504
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22036843
uniprot
proteins
pubmed
24089531
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24838397
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
28031252
uniprot
proteins
pubmed
30922174
uniprot
proteins
pubmed
9585441
uniprot
proteins
pubmed
9647766
uniprot
proteins
sequence_length
463
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000305|PubMed:12611891, ECO:0000305|PubMed:9585441}; Peripheral membrane protein {ECO:0000250|UniProtKB:Q641Y2}; Matrix side {ECO:0000250|UniProtKB:Q641Y2}.
uniprot
proteins