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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 3 4
  • NADH Dehydrogenase Subunit 2 3 4
  • ND2 3 4
  • Mitochondrially Encoded NADH Dehydrogenase 2 2
  • NADH-Ubiquinone Oxidoreductase Chain 2 2
  • Complex I ND2 Subunit 2
  • NADH Dehydrogenase 2 2
  • EC 1.6.5.3 4
  • 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.. Gene Ontology (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

Additional gene information for MT-ND2 Gene

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

Genomics for MT-ND2 Gene

Genomic Locations for MT-ND2 Gene

Genomic Locations for MT-ND2 Gene
chrMT:4,470-5,511
(GRCh38/hg38)
Size:
1,042 bases
Orientation:
Plus strand
chrMT:4,470-5,511
(GRCh37/hg19)
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 GeneHancer (GH) 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};

    Three dimensional structures from OCA and Proteopedia for MT-ND2 Gene

neXtProt entry for MT-ND2 Gene

Post-translational modifications for MT-ND2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MT-ND2 Gene

ENSEMBL proteins:

No data available for DME Specific Peptides for MT-ND2 Gene

Domains & Families for MT-ND2 Gene

Gene Families for MT-ND2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

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 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).
UniProtKB/Swiss-Prot CatalyticActivity:
NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out).

Enzyme Numbers (IUBMB) for MT-ND2 Gene

Phenotypes From GWAS Catalog for MT-ND2 Gene

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 3921850
GO:0016491 oxidoreductase activity IEA --
GO:0019901 protein kinase binding IEA --
GO:0035255 ionotropic glutamate receptor binding IEA --
genes like me logo Genes that share ontologies with MT-ND2: view
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

Animal Model Products

Clone Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MT-ND2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 3
nucleus 2
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

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

GO ID Qualified GO term Evidence PubMed IDs
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 3921850
GO:0014069 postsynaptic density IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MT-ND2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MT-ND2 Gene

Pathways & Interactions for MT-ND2 Gene

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

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 TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
GO:0072593 reactive oxygen species metabolic 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target, binder 0
FAD Approved Pharma 0
Coenzyme Q10 Approved, Investigational Nutra 129
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • FE (II) ion
  • Fe(II)
  • Fe(2+)
  • Ferrous ion
  • Iron ion(2+)
15438-31-0
QH(2)
  • Ubiquinol
  • Ubiquinol 0
  • Ubiquinol 1
  • Ubiquinol 50
  • Ubiquinol 7
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
18496-25-8
Ubiquinol 8
  • Reduced coenzyme Q8
  • Ubiquinol(8)
  • Ubiquinol-8
74075-00-6
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 :

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for MT-ND2 Gene



Protein tissue co-expression partners for MT-ND2 Gene

- Elite partner

Evidence on tissue expression from TISSUES for MT-ND2 Gene

  • Muscle(4.2)
  • Heart(4.1)
  • Kidney(3.8)
  • Liver(3.8)
  • Skin(3.8)
  • Nervous system(3.8)
  • Pancreas(3.6)
  • Adrenal gland(3.5)
  • Lymph node(3.3)
  • Stomach(3.3)
  • Gall bladder(3.2)
  • Lung(3.2)
  • Intestine(3.1)
  • Bone marrow(3)
  • Spleen(3)
  • Thyroid gland(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MT-ND2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
  • lung
Abdomen:
  • adrenal gland
  • liver
  • stomach
Limb:
  • foot
  • lower limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with MT-ND2: view

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
chimpanzee
(Pan troglodytes)
Mammalia MT-ND2 34
  • 96 (a)
OneToOne
ND2 33
  • 90.39 (n)
cow
(Bos Taurus)
Mammalia ND2 34 33
  • 66.08 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ND2 33
  • 64.53 (n)
MT-ND2 34
  • 59 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia ND2 33
  • 63.2 (n)
mouse
(Mus musculus)
Mammalia ND2 33
  • 62.84 (n)
mt-Nd2 16 34
  • 57 (a)
oppossum
(Monodelphis domestica)
Mammalia NADH2 34
  • 52 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ND2 34
  • 52 (a)
OneToOne
chicken
(Gallus gallus)
Aves ND2 33
  • 60.04 (n)
MT-ND2 34
  • 48 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ND2 34
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ND2 33
  • 57.95 (n)
zebrafish
(Danio rerio)
Actinopterygii ND2 33
  • 53.48 (n)
mt-nd2 34
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta ND2 33
  • 50.13 (n)
mt:ND2 34
  • 35 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta ND2 33
  • 48.42 (n)
Species where no ortholog for MT-ND2 was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MT-ND2: view image

Paralogs for MT-ND2 Gene

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

  • NU2M_HUMAN
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 Variation AA Info Type
rs1057516057 uncertain-significance, Leber's optic atrophy, Developmental delay, Fibrosis, Hepatic steatosis, Hepatitis, Myopia, Neuromuscular Diseases 3,275(+) C/G/T
rs1057516058 uncertain-significance, Generalized hypotonia, Global developmental delay 3,624(+) A/G
rs1057516059 uncertain-significance, Developmental delay, Seizure Disorders 4,664(+) C/T coding_sequence_variant, synonymous_variant
rs118203884 pathogenic, Mitochondrial myopathy 4,409(+) T/C
rs118203891 pathogenic, Exercise intolerance and complex III deficiency, somatic 5,874(+) T/C

Additional Variant Information for MT-ND2 Gene

Human Gene Mutation Database (HGMD)
MT-ND2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
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

(16) MalaCards diseases for MT-ND2 Gene - From: HGMD, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leber hereditary optic neuropathy
  • leber optic atrophy
alzheimer disease mitochondrial
  • alzheimer disease, susceptibility to, mitochondrial
leigh syndrome
  • ls
mitochondrial complex i deficiency
  • nadh:q(1) oxidoreductase deficiency
mitochondrial dna-associated leigh syndrome and narp
  • mtdna-associated leigh syndromenarp
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NU2M_HUMAN
  • 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.
  • 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 variations affecting the gene represented in this entry.

Additional Disease Information for 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 (Mechanisms of ageing and development 2005) 3 22 44 58
  2. The association of mitochondrial DNA 5178 C > a polymorphism with plasma lipid levels among three ethnic groups. (PMID: 16266403) Lal S … Heng CK (Annals of human genetics 2005) 3 22 44 58
  3. 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 22 44 58
  4. Departure from neutrality at the mitochondrial NADH dehydrogenase subunit 2 gene in humans, but not in chimpanzees. (PMID: 9475751) Wise CA … Easteal S (Genetics 1998) 3 4 22 58
  5. Quantitative analysis of mitochondrial DNA 4977-bp deletion in sporadic breast cancer and benign breast diseases. (PMID: 17541740) Ye C … Cai Q (Breast cancer research and treatment 2008) 3 44 58

Products for MT-ND2 Gene

Sources for MT-ND2 Gene

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