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    MT-ND2 mitochondrially encoded NADH dehydrogenase 2 [ Homo sapiens (human) ]

    Gene ID: 4536, updated on 3-Nov-2024

    Summary

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    Official Symbol
    MT-ND2provided by HGNC
    Official Full Name
    mitochondrially encoded NADH dehydrogenase 2provided by HGNC
    Primary source
    HGNC:HGNC:7456
    See related
    MIM:516001; AllianceGenome:HGNC:7456
    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; ND2
    Summary
    Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Part of mitochondrial inner membrane and respiratory chain complex I. Implicated in Leber hereditary optic neuropathy; multiple sclerosis; myocardial infarction; neurodegenerative disease (multiple); and urinary bladder cancer. [provided by Alliance of Genome Resources, Nov 2024]
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    Genomic context

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    See MT-ND2 in Genome Data Viewer
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) MT (non-nuclear) NC_012920.1 (4470..5511)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) MT (non-nuclear) NC_012920.1 (4470..5511)

    Chromosome MT - NC_012920.1Genomic Context describing neighboring genes Neighboring gene tRNA-Ile Neighboring gene tRNA-Gln Neighboring gene tRNA-Met Neighboring gene tRNA-Trp Neighboring gene tRNA-Ala

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Mitochondrial DNA injury and mortality in hemodialysis patients. Rao M, et al. J Am Soc Nephrol, 2009 Jan. PMID 18684894, Free PMC Article
    2. Association of a 5178C-->A (Leu237Met) polymorphism in the mitochondrial DNA with a low prevalence of myocardial infarction in Japanese individuals. Takagi K, et al. Atherosclerosis, 2004 Aug. PMID 15262184
    3. Detection of mtDNA with 4977 bp deletion in blood cells and atherosclerotic lesions of patients with coronary artery disease. Botto N, et al. Mutat Res, 2005 Feb 15. PMID 15680405
    4. Correlation between increased ND2 expression and demethylated displacement loop of mtDNA in colorectal cancer. Feng S, et al. Mol Med Rep, 2012 Jul. PMID 22505229
    5. Influence of mitochondrial DNA 5178 C/A polymorphism on serum cholesterol changes: a short-term follow-up in middle-aged Japanese men. Honmyo R, et al. Environ Health Prev Med, 2012 Sep. PMID 22351520, Free PMC Article

    See all (78) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes.
      Title: Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes.
    2. Analysis of variants in mitochondrial genome and their putative pathogenicity in tuberculosis patients from Mizoram, North east India.
      Title: Analysis of variants in mitochondrial genome and their putative pathogenicity in tuberculosis patients from Mizoram, North east India.
    3. gene variants not associated with total fertilization failure
      Title: Association between sperm mitochondrial ND2 gene variants and total fertilization failure.
    4. The C5263T single-nucleotide mutation of the mitochondrial ND2 gene was observed in 2 young coronary heart disease (CHD) patients in the case group. The premature CHD of these 2 patients followed a pattern of maternal inheritance.
      Title: The Association between the C5263T Mutation in the Mitochondrial ND2 Gene and Coronary Heart Disease among Young Chinese Han People.
    5. Data show no association between the mitochondrial 5178C/A polymorphism of NADH-dehydrogenase subunit 2 (ND2) gene with type-2 diabetes mellitus (T2DM), however, the polymorphism may affect the development of nephropathy and hypertension complications.
      Title: [Effect of mitochondrial DNA 5178 C/A polymorphism on risks for type 2 diabetes mellitus and its complications].
    6. Study identified cancer-specific somatic variants in the ND2 and ND3 regions, and the presence of these mutated DNAs in the serum during the postoperative period accurately predicted poor prognoses in oral squamous cell carcinomas.
      Title: Quantitative detection of circulating tumor-derived mitochondrial NADH subunit variants as a potential prognostic biomarker for oral cancer.
    7. This study did not show a correlation between ARMS2, C3, MT-NDH2, and CFH alleles in the development of choroid neovascularization associated with ocular histoplasmosis.
      Title: Investigation of choroidal neovascularization risk alleles in ocular histoplasmosis.
    8. The Mt5178 C/A genotype, which results in an amino acid polymorphism in NADH dehydrogenase subunit 2, may modify longitudinal changes in serum total cholesterol and high-density lipoprotein cholesterol levels in middle-aged Japanese men.
      Title: Influence of mitochondrial DNA 5178 C/A polymorphism on serum cholesterol changes: a short-term follow-up in middle-aged Japanese men.
    9. demethylation of the D-loop plays a key role in regulating ND2 expression during the initiation and/or progression of colorectal cancer.
      Title: Correlation between increased ND2 expression and demethylated displacement loop of mtDNA in colorectal cancer.
    10. 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.
    Submit: New GeneRIF Correction See all GeneRIFs (23)

    Phenotypes

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

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Leber optic atrophy
    MedGen: C0917796 OMIM: 535000 GeneReviews: Leber Hereditary Optic Neuropathy, Primary Mitochondrial Disorders Overview
    		not available

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    capsid gag The interaction of HIV-1 CA with human cellular NADH dehydrogenase 2 mitochondrial protein (MT-ND2) is identified by yeast two-hybrid screen PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables NADH dehydrogenase (ubiquinone) activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables NADH dehydrogenase (ubiquinone) activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables NADH dehydrogenase (ubiquinone) activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables ionotropic glutamate receptor binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in aerobic respiration NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitochondrial electron transport, NADH to ubiquinone IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mitochondrial electron transport, NADH to ubiquinone NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in mitochondrial respiratory chain complex I assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in proton motive force-driven mitochondrial ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in reactive oxygen species metabolic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    part_of respiratory chain complex I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of respiratory chain complex I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of respiratory chain complex I NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    NADH dehydrogenase subunit 2
    YP_003024027.1
    • TAA stop codon is completed by the addition of 3' A residues to the mRNA

    NCBI Reference Sequences (RefSeq)

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    Genome Annotation

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

    Reference assembly

    Genomic

    1. NC_012920.1 Reference assembly

      Range
      4470..5511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. YP_003024027.1 NADH dehydrogenase subunit 2 (mitochondrion) [Homo sapiens]

      See identical proteins and their annotated locations for YP_003024027.1

      Status: PROVISIONAL

      UniProtKB/Swiss-Prot
      P03891, Q34769, Q9TGI0, Q9TGI1, Q9TGI2, Q9TGI3, Q9TGI4
      UniProtKB/TrEMBL
      A0A1X7RBG6, A0A1Z1VTG4, A0A343DSH6, A0A343GDL6, A0A343L4W2, A6YZ26, A8WEK0, C7B3M4, D7NIW4, E1B2G8, E7E499, F8RYR8, G3EBP7, H9LPT2, H9LQR7, I3PYM7, L7YLF7, Q15GW0, Q2HK51, Q305W5, Q4F1T1, Q4F5W1, Q7GXY9, Q7YCG4, Q85KS6, Q85KS9, Q85KU4, Q85L01, Q9B1Q7, Q9B2X3, Q9B2Y8, V5JRM9
      Related
      ENSP00000355046.4
      Conserved Domains (1) summary
      MTH00105
      Location:1 → 346
      ND2; NADH dehydrogenase subunit 2; Provisional
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P03891.2 P03891

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