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Aliases for MT-ND2 Gene

Aliases for MT-ND2 Gene

  • Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2 2 5
  • MTND2 3 3 4
  • NADH Dehydrogenase Subunit 2 3 4
  • EC 1.6.5.3 4 63
  • ND2 3 4
  • Mitochondrially Encoded NADH Dehydrogenase 2 2
  • NADH-Ubiquinone Oxidoreductase Chain 2 2
  • Complex I ND2 Subunit 2
  • NADH Dehydrogenase 2 2
  • NADH2 4

External Ids for MT-ND2 Gene

Previous HGNC Symbols for MT-ND2 Gene

  • MTND2

Previous GeneCards Identifiers for MT-ND2 Gene

  • GC00U921588
  • GCMTP003310

Summaries for MT-ND2 Gene

GeneCards Summary for MT-ND2 Gene

MT-ND2 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2) is a Protein Coding gene. Diseases associated with MT-ND2 include leber hereditary optic neuropathy and alzheimer disease mitochondrial. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for MT-ND2 Gene

  • Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).

Gene Wiki entry for MT-ND2 Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MT-ND2 Gene

Genomics for MT-ND2 Gene

Genomic Location for MT-ND2 Gene

Chromosome:
MT
Start:
4,470 bp from pter
End:
5,511 bp from pter
Size:
1,042 bases
Orientation:
Plus strand

Genomic View for MT-ND2 Gene

Genes around MT-ND2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for MT-ND2 Gene

No data available for Regulatory Elements for MT-ND2 Gene

Proteins for MT-ND2 Gene

  • Protein details for MT-ND2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P03891-NU2M_HUMAN
    Recommended name:
    NADH-ubiquinone oxidoreductase chain 2
    Protein Accession:
    P03891
    Secondary Accessions:
    • Q34769
    • Q9TGI0
    • Q9TGI1
    • Q9TGI2
    • Q9TGI3
    • Q9TGI4

    Protein attributes for MT-ND2 Gene

    Size:
    347 amino acids
    Molecular mass:
    38961 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAA65502.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for MT-ND2 Gene

Proteomics data for MT-ND2 Gene at MOPED

Post-translational modifications for MT-ND2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MT-ND2 Gene

ENSEMBL proteins:

Domains & Families for MT-ND2 Gene

Gene Families for MT-ND2 Gene

Graphical View of Domain Structure for InterPro Entry

P03891

UniProtKB/Swiss-Prot:

NU2M_HUMAN :
  • Belongs to the complex I subunit 2 family.
Family:
  • Belongs to the complex I subunit 2 family.
genes like me logo Genes that share domains with MT-ND2: view

Function for MT-ND2 Gene

Molecular function for MT-ND2 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out).
UniProtKB/Swiss-Prot Function:
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believed to belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity).

Enzyme Numbers (IUBMB) for MT-ND2 Gene

Gene Ontology (GO) - Molecular Function for MT-ND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with MT-ND2: view

Phenotypes for MT-ND2 Gene

MGI mutant phenotypes for MT-ND2:
inferred from 1 alleles
GenomeRNAi human phenotypes for MT-ND2:
genes like me logo Genes that share phenotypes with MT-ND2: view

Human Phenotype Ontology for MT-ND2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for MT-ND2 Gene

Localization for MT-ND2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MT-ND2 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MT-ND2 Gene COMPARTMENTS Subcellular localization image for MT-ND2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 2
chloroplast 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for MT-ND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0014069 postsynaptic density IEA --
genes like me logo Genes that share ontologies with MT-ND2: view

Pathways & Interactions for MT-ND2 Gene

genes like me logo Genes that share pathways with MT-ND2: view

Interacting Proteins for MT-ND2 Gene

Gene Ontology (GO) - Biological Process for MT-ND2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone IEA --
GO:0022904 respiratory electron transport chain TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with MT-ND2: view

No data available for SIGNOR curated interactions for MT-ND2 Gene

Drugs & Compounds for MT-ND2 Gene

(10) Drugs for MT-ND2 Gene - From: Novoseek, DrugBank, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0
NADH Nutra Target, binder 0
NAD Pharma Full agonist, Agonist 0

(7) Additional Compounds for MT-ND2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
genes like me logo Genes that share compounds with MT-ND2: view

Transcripts for MT-ND2 Gene

mRNA/cDNA for MT-ND2 Gene

(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MT-ND2 Gene

No ASD Table

Relevant External Links for MT-ND2 Gene

GeneLoc Exon Structure for
MT-ND2
ECgene alternative splicing isoforms for
MT-ND2

Expression for MT-ND2 Gene

mRNA expression in normal human tissues for MT-ND2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MT-ND2 Gene

This gene is overexpressed in Heart (19.5), Brain (6.4), and Frontal cortex (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for MT-ND2 Gene



genes like me logo Genes that share expression patterns with MT-ND2: view

Protein tissue co-expression partners for MT-ND2 Gene

- Elite partner

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MT-ND2 Gene

Orthologs for MT-ND2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MT-ND2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ND2 35
  • 66.08 (n)
  • 63.93 (a)
ND2 36
  • 63 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ND2 35
  • 64.53 (n)
  • 59.77 (a)
MT-ND2 36
  • 59 (a)
OneToOne
mouse
(Mus musculus)
Mammalia ND2 35
  • 62.84 (n)
  • 59.94 (a)
mt-Nd2 16
mt-Nd2 36
  • 57 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ND2 35
  • 90.39 (n)
  • 95.39 (a)
MT-ND2 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia ND2 35
  • 63.2 (n)
  • 57.41 (a)
oppossum
(Monodelphis domestica)
Mammalia NADH2 36
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ND2 36
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves ND2 35
  • 60.04 (n)
  • 51.24 (a)
MT-ND2 36
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ND2 36
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ND2 35
  • 57.95 (n)
  • 52.03 (a)
zebrafish
(Danio rerio)
Actinopterygii ND2 35
  • 53.48 (n)
  • 46.11 (a)
mt-nd2 36
  • 45 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ND2 35
  • 48.42 (n)
  • 41.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta ND2 35
  • 50.13 (n)
  • 44.7 (a)
mt:ND2 36
  • 35 (a)
OneToOne
Species with no ortholog for MT-ND2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MT-ND2 Gene

ENSEMBL:
Gene Tree for MT-ND2 (if available)
TreeFam:
Gene Tree for MT-ND2 (if available)

Paralogs for MT-ND2 Gene

(4) SIMAP similar genes for MT-ND2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MT-ND2: view

No data available for Paralogs for MT-ND2 Gene

Variants for MT-ND2 Gene

Sequence variations from dbSNP and Humsavar for MT-ND2 Gene

SNP ID Clin Chr MT pos Sequence Context AA Info Type
VAR_004755 Leber hereditary optic neuropathy (LHON)
VAR_004756 Leber hereditary optic neuropathy (LHON)
VAR_004757 -
VAR_004758 Alzheimer disease mitochondrial (AD-MT)
VAR_008590 -

Relevant External Links for MT-ND2 Gene

HapMap Linkage Disequilibrium report
MT-ND2
Human Gene Mutation Database (HGMD)
MT-ND2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Structural Variations from Database of Genomic Variants (DGV) and Variation tolerance for MT-ND2 Gene

Disorders for MT-ND2 Gene

MalaCards: The human disease database

(9) MalaCards diseases for MT-ND2 Gene - From: ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leber hereditary optic neuropathy
  • leber optic atrophy
alzheimer disease mitochondrial
  • ad-mt
mitochondrial dna-associated leigh syndrome
  • leigh disease, maternally inherited
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NU2M_HUMAN
  • 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 constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. {ECO:0000269 PubMed:1370613}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.
  • Leber hereditary optic neuropathy (LHON) [MIM:535000]: 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. {ECO:0000269 PubMed:1732158, ECO:0000269 PubMed:1900003}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MT-ND2

Genetic Association Database (GAD)
MT-ND2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MT-ND2
genes like me logo Genes that share disorders with MT-ND2: view

No data available for Genatlas for MT-ND2 Gene

Publications for MT-ND2 Gene

  1. Longevity-associated NADH dehydrogenase subunit-2 polymorphism and serum electrolyte levels in middle-aged obese Japanese men. (PMID: 15888325) Kokaze A. … Takashima Y. (Mech. Ageing Dev. 2005) 3 23 48 67
  2. The association of mitochondrial DNA 5178 C > a polymorphism with plasma lipid levels among three ethnic groups. (PMID: 16266403) Lal S. … Heng C.K. (Ann. Hum. Genet. 2005) 3 23
  3. Unique domain anchoring of Src to synaptic NMDA receptors via the mitochondrial protein NADH dehydrogenase subunit 2. (PMID: 15069201) Gingrich J.R. … Salter M.W. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 23
  4. Association of a 5178C-->A (Leu237Met) polymorphism in the mitochondrial DNA with a low prevalence of myocardial infarction in Japanese individuals. (PMID: 15262184) Takagi K. … Tanaka M. (Atherosclerosis 2004) 3 23
  5. [The changes of gene expression in multiple myeloma treated with thalidomide]. (PMID: 12882707) Zhang H.B. … Wang H.J. (Zhonghua Nei Ke Za Zhi 2003) 23 25

Products for MT-ND2 Gene

Sources for MT-ND2 Gene

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