Entity Details

Primary name ND2
Entity type gene
Source Source Link

Details

PrimaryID4536
RefseqGene
SymbolND2
Namemitochondrially encoded NADH dehydrogenase 2
Chromosome
Location
TaxID9606
Statuslive
SourceGenomemitochondrion
SourceOrigin
CreationDate2003-08-05
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsNU2M_HUMAN

GO terms

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GOName
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0014069 postsynaptic density
GO:0016021 integral component of membrane
GO:0019901 protein kinase binding
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0035255 ionotropic glutamate receptor binding
GO:0072593 reactive oxygen species metabolic process

Diseases

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Disease IDSourceNameDescription
535000 OMIMLeber hereditary optic neuropathy (LHON)A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes. The disease is caused by variants affecting the gene represented in this entry.
502500 OMIMAlzheimer disease mitochondrial (AD-MT)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. Disease susceptibility may be associated with variants affecting the gene represented in this entry.
256000 OMIMLeigh syndrome (LS)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. Disease susceptibility is associated with variants affecting the gene represented in this entry.

Interactions

15 interactions

InteractorPartnerSourcesPublicationsLink
ND2STK11BioGRID, MINT25640309 details
ND2SRCBioGRID15069201 details
ND2GRIN1BioGRID15069201 details
ND2YME1L1BioGRID22262461 details
ND2NDUFA11BioGRID, MINT24344204 details
ND2TIMMDC1BioGRID, MINT24344204 details
ND2NDUFA6IntAct12611891 details
ND2HSCBBioGRID, IntAct28380382 details
ND2IPPKBioGRID, IntAct28514442 details
ND2NDUFS3BioGRID, IntAct28514442 details
ND2NDUFS6BioGRID, IntAct28514442 details
ND2FNDC4BioGRID, IntAct28514442 details
ND2ACAD9BioGRID32877691 details
ND2CCDC90BBioGRID32877691 details
ND2PARK7BioGRID18626009 details