ND2
entrez
4536
canonical
uniprot
P03891
canonical
ensembl
ENSG00000198763
resolver
ensp
ENSP00000355046
resolver
enst
ENST00000361453
resolver
genesymbol
MT-ND2
resolver
genesymbol
ND2
resolver
genesymbol_syn
MTND2
resolver
genesymbol_syn
NADH2
resolver
genesymbol_syn
ND2
resolver
hgnc
HGNC:7456
resolver
uniprot
A0A1X7RBG6
resolver
uniprot
H9LPT2
resolver
uniprot
H9LQR7
resolver
uniprot
Q34769
resolver
uniprot
Q7GXY9
resolver
uniprot
Q85KS9
resolver
uniprot
Q85KU4
resolver
uniprot
Q85L01
resolver
uniprot
Q9TGI0
resolver
uniprot
Q9TGI1
resolver
uniprot
Q9TGI2
resolver
uniprot
Q9TGI3
resolver
uniprot
Q9TGI4
resolver
uniprot_entry
NU2M_HUMAN
resolver
uniprot_entry
Q7GXY9_HUMAN
resolver
uniprot_sec
A0A1X7RBG6
resolver
uniprot_sec
H9LPT2
resolver
uniprot_sec
H9LQR7
resolver
uniprot_sec
Q34769
resolver
uniprot_sec
Q85KS9
resolver
uniprot_sec
Q85KU4
resolver
uniprot_sec
Q85L01
resolver
uniprot_sec
Q9TGI0
resolver
uniprot_sec
Q9TGI1
resolver
uniprot_sec
Q9TGI2
resolver
uniprot_sec
Q9TGI3
resolver
uniprot_sec
Q9TGI4
resolver
amino_acid_sequence
MNPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIKYFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVPEVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQLRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSRTWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNLYFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL
uniprot
proteins
disease_involvement
DISEASE: Leber hereditary optic neuropathy (LHON) [MIM:535000]: A maternally inherited 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. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. {ECO:0000269|PubMed:1732158, ECO:0000269|PubMed:1900003}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Alzheimer disease mitochondrial (AD-MT) [MIM:502500]: Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death. {ECO:0000269|PubMed:1370613}. Note=Disease susceptibility may be associated with variants affecting the gene represented in this entry.; DISEASE: Leigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:16996290}. Note=Disease susceptibility is associated with 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:16996290). Essential for the catalytic activity and assembly of complex I (PubMed:16996290). {ECO:0000269|PubMed:16996290}.
uniprot
proteins
mass_dalton
38961
uniprot
proteins
protein_family
Complex I subunit 2 family
uniprot
proteins
pubmed
11130070
uniprot
proteins
pubmed
12611891
uniprot
proteins
pubmed
12840039
uniprot
proteins
pubmed
12949126
uniprot
proteins
pubmed
1370613
uniprot
proteins
pubmed
14760490
uniprot
proteins
pubmed
16996290
uniprot
proteins
pubmed
1732158
uniprot
proteins
pubmed
1757091
uniprot
proteins
pubmed
1900003
uniprot
proteins
pubmed
19690332
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
33753518
uniprot
proteins
pubmed
3921850
uniprot
proteins
pubmed
6260957
uniprot
proteins
pubmed
7219534
uniprot
proteins
pubmed
7530363
uniprot
proteins
pubmed
9461455
uniprot
proteins
pubmed
9475751
uniprot
proteins
sequence_length
347
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000250|UniProtKB:P03892}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 13..33; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 56..76; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 96..116; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 123..143; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 149..169; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 178..198; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 201..221; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 247..267; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 274..294; /note="Helical"; /evidence="ECO:0000255"; TRANSMEM 326..346; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins