ND2 MTND2 [Homo sapiens] - Gene

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Summary

Gene symbol: ND2
Gene description: MTND2
Primary source: HGNC:7456
See related: MIM:516001
Gene type: protein coding
RefSeq status: PROVISIONAL
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MTND2

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Genomic context

Location :: country: United Kingdom: Great Britain, isolation source: caucasian, tissue type: placenta

Sequence :: Chromosome: MT; NC_012920.1 (4470..5511)

See ND2 in Epigenomics, MapViewer

Chromosome MT - NC_012920.1 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

For Mt5178C genotypic men, alcohol consumption may reduce the risk of hyper-LDL cholesterolemia
Title: Joint effect of longevity-associated mitochondrial DNA 5178 C/A polymorphism and alcohol consumption on risk of hyper-LDL cholesterolemia in middle-aged Japanese men.
modifies the effects of coffee consumption on blood pressure or the risk of hypertension
Title: NADH dehydrogenase subunit-2 237 Leu/Met polymorphism modulates the effects of coffee consumption on the risk of hypertension in middle-aged Japanese men.
mitochondrial MTND2 polymorphism may increase susceptibility to nucleoside reverse transcriptase inhibitors associated peripheral neuropathy
Title: The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy.
Observational study of genotype prevalence. (HuGE Navigator)
Title: Tracking of the genetic deafness associated to the aging in Brazilian patients.
Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: The mitochondrial pharmacogenomics of haplogroup T: MTND2*LHON4917G and antiretroviral therapy-associated peripheral neuropathy.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Complex I polymorphisms, bigenomic heterogeneity, and family history in Virginians with Parkinson's disease.
Observational study of genetic testing. (HuGE Navigator)
Title: Genotyping Parkinson disease-associated mitochondrial polymorphisms.
Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Mitochondrial DNA variant A4917G, smoking and spontaneous preterm birth.
Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Possible relationship between mitochondrial DNA polymorphisms and lithium response in bipolar disorder.
Observational study of gene-environment interaction. (HuGE Navigator)
Title: Interaction between longevity-associated mitochondrial DNA 5178 C/A polymorphism and cigarette smoking on hematological parameters in Japanese men.

Submit: New GeneRIF Correction See all (14)

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Phenotypes

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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Interactions

Products	Interactant	Other Gene	Source	Pubs	Description
P03891	P12931	SRC	HPRD	PubMed
BioGRID:110632	BioGRID:109159	GRIN1	BioGRID	PubMed	Affinity Capture-Western
BioGRID:110632	BioGRID:112592	SRC	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:110632	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS

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General gene information

Markers

D17S1473E (e-PCR)
- UniSTS:151680

PMC55343P1 (e-PCR)
- UniSTS:273322

PMC113853P1 (e-PCR)
- UniSTS:270258

PMC31832P1 (e-PCR)
- UniSTS:273091

NIB250 (e-PCR)
- UniSTS:56529

Genotypes

Pathways from BioSystems

Electron Transport Chain, organism-specific biosystem (from WikiPathways)
Electron Transport Chain, organism-specific biosystemAn electron transport chain(ETC) couples a chemical reaction between an electron donor (such as NADH) and an electron acceptor (such as O2) to the transfer of H+ ions across a membrane, through a set...
Metabolic pathways, organism-specific biosystem (from KEGG)
Metabolic pathways, organism-specific biosystem
Metabolic pathways
Metabolism, organism-specific biosystem (from REACTOME)
Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
NADH:ubiquinone oxidoreductase, mitochondria, organism-specific biosystem (from KEGG)
NADH:ubiquinone oxidoreductase, mitochondria, organism-specific biosystemStructural complex; Energy metabolism; ATP synthesis
Oxidative phosphorylation, organism-specific biosystem (from WikiPathways)
Oxidative phosphorylation, organism-specific biosystem
Oxidative phosphorylation
Oxidative phosphorylation, organism-specific biosystem (from KEGG)
Oxidative phosphorylation, organism-specific biosystem
Oxidative phosphorylation
Oxidative phosphorylation, conserved biosystem (from KEGG)
Oxidative phosphorylation, conserved biosystem
Oxidative phosphorylation
Parkinson's disease, organism-specific biosystem (from KEGG)
Parkinson's disease, organism-specific biosystemParkinson's disease (PD) is a progressive neurodegenerative movement disorder that results primarily from the death of dopaminergic neurons in the substantia nigra. Mutations in alpha-synuclein, UCHL...
Respiratory electron transport, organism-specific biosystem (from REACTOME)
Respiratory electron transport, organism-specific biosystemMitochondria are often described as the "powerhouse" of a cell as it is here that energy is largely released from the oxidation of food. Reducing equivalents generated from beta-oxidation of fatty ac...
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystem (from REACTOME)
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins., organism-specific biosystemOxidation of fatty acids and pyruvate in the mitochondrial matrix yield large amounts of NADH. The respiratory electron transport chain couples the re-oxidation of this NADH to NAD+ to the export of ...
The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystem (from REACTOME)
The citric acid (TCA) cycle and respiratory electron transport, organism-specific biosystemThe metabolism of pyruvate provides one source of acetyl-CoA which enters the citric acid (TCA, tricarboxylic acid) cycle to generate energy and the reducing equivalent NADH. These reducing equivalen...

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General protein information

Preferred Names: MTND2

Names: NADH dehydrogenase subunit 2

YP_003024027.1

TAA stop codon is completed by the addition of 3' A residues to the mRNA

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NCBI Reference Sequences (RefSeq)

Genome Annotation

The following sections contain reference sequences that belong to a specific genome build. Explain

mRNA and Protein(s)

YP_003024027.1 NADH dehydrogenase subunit 2 [Homo sapiens]

UniProtKB/Swiss-Prot

P03891

UniProtKB/TrEMBL

Q7GXY9

Conserved Domains (2) summary

MTH00105
Location:1 – 346
Blast Score: 813

ND2; NADH dehydrogenase subunit 2; Provisional

cl14187
Location:23 – 194
Blast Score: 177

Oxidored_q1; NADH-Ubiquinone/plastoquinone (complex I), various chains