MT-ND2 Gene
protein-coding GIFtS: 43
GCID: GCMTP004472
|
|
mitochondrially encoded NADH dehydrogenase 2(Previous name: NADH dehydrogenase 2 )
(Previous symbol: MTND2)
| |
Aliases
for MT-ND2 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Mitochondrially Encoded NADH Dehydrogenase 21 | | EC 1.6.5.33 8 | | MTND21 2 3 | | NAD21 | | ND21 2 3 | | NADH Dehydrogenase 21 | | NADH Dehydrogenase Subunit 22 3 | | NADH23 |
Export aliases for MT-ND2 gene to outside databasesPrevious GC identifers: GC00U921588 GCMTP003310 |
Summaries
for MT-ND2 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: NU2M_HUMAN, P03891Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believedto belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADHto the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)
Gene Wiki entry for MT-ND2
|
Genomic Views
for MT-ND2 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for MT-ND2
Other transcription factors
Search SABiosciences Chromatin IP Primers for MT-ND2
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND2 |
Genomic Location:
Chromosome:MT
Ensembl cytogenetic band: MT HGNC chromosome: mitochondriaGeneLoc information about chromosome MT GeneLoc Exon Structure GeneLoc location for GCMTP004472: view genomic region
(about GC identifiers)
Start:
|
4,470 bp from pter |
End:
|
5,511 bp from pter |
Size:
|
1,042 bases |
Orientation:
|
plus strand |
|
Proteins
for MT-ND2 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: NU2M_HUMAN, P03891 (See
protein sequence)Recommended Name: NADH-ubiquinone oxidoreductase chain 2 Size: 347 amino acids; 38961 Da
Subcellular location: Mitochondrion inner membrane; Multi-pass membrane protein
Sequence caution: Sequence=AAA65502.1; Type=Erroneous initiation;
Secondary accessions: Q34769 Q9TGI0 Q9TGI1 Q9TGI2 Q9TGI3 Q9TGI4Explore the universe of human proteins at neXtProt for MT-ND2: NX_P03891
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_P03891
4/17 DME Specific Peptides for MT-ND2 (P03891) (see all 17)
MT-ND2 Protein expression data from MOPED and PaxDb: About this image 
ENSEMBL proteins: ENSP00000355046 Reactome Protein details: P03891
Human Recombinant Protein Products for MT-ND2:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
MT-ND2 for ontologies About GeneDecksing
MT-ND2 Antibody Products:
Assay Products for MT-ND2: |
Protein
Domains /
Families
for MT-ND2 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
MT-ND2 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P03891ProtoNet protein and cluster: P03891 1 Blocks protein family: IPB003917 NADH-ubiquinone oxidoreductase chain 2 signature
UniProtKB/Swiss-Prot: NU2M_HUMAN, P03891Similarity: Belongs to the complex I subunit 2 family |
Function
for MT-ND2 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: NU2M_HUMAN, P03891Function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) that is believedto belong to the minimal assembly required for catalysis. Complex I functions in the transfer of electrons from NADHto the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone (By similarity)Catalytic activity: NADH + ubiquinone = NAD(+) + ubiquinol Enzyme Number (IUBMB): EC 1.6.5.31 2
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008137 | NADH dehydrogenase (ubiquinone) activity |
NAS | 3921850 |
MT-ND2 for ontologies About GeneDecksing
Phenotypes:
2 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for mt-Nd2):
MT-ND2 for phenotypes About GeneDecksing
Animal Models:
|
Pathways & Interactions
for MT-ND2 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table 
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. | | | 2 | Metabolism | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2  BioSystems Pathways for MT-ND2
4 
Reactome Pathways for MT-ND2
3 
Kegg Pathways (Kegg details for MT-ND2):
MT-ND2 for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MT-ND2
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/62 Interacting proteins for MT-ND2 (P038913 ENSP000003550464) via UniProtKB, MINT, STRING, and/or I2D (see all 62)About this table
Gene Ontology (GO): 4 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006120 | mitochondrial electron transport, NADH to ubiquinone |
NAS | 9475751 | | GO:0022904 | respiratory electron transport chain |
TAS | -- | | GO:0044281 | small molecule metabolic process |
TAS | -- | | GO:0072593 | reactive oxygen species metabolic process |
-- | -- |
MT-ND2 for ontologies About GeneDecksing
|
Drugs & Compounds
for MT-ND2 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
MT-ND2 for compounds About GeneDecksing
 Browse Tocris compounds for MT-ND2
9 HMDB Compounds for MT-ND2 About this table
1 DrugBank Compound for MT-ND2 About this table
7 Novoseek chemical compound relationships for MT-ND2 gene About this table
Search CenterWatch for drugs/clinical trials and news about MT-ND2 / NU2M
|
Transcripts
for MT-ND2 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
1 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000361453
GeneLoc Exon Structure
|
Expression
for MT-ND2 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| MT-ND2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
See MT-ND2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MT-ND2
SABiosciences Custom PCR Arrays for MT-ND2
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for MT-ND2
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MT-ND2 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND2 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND2 |
Orthologs
for MT-ND2 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for MT-ND2 gene from 5/13 species (see all 13) About this table
ENSEMBL Gene Tree for MT-ND2 (if available)
TreeFam Gene Tree for MT-ND2 (if available) |
Paralogs
for MT-ND2 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for MT-ND2 gene
- MT-ND42 MT-ND52
3 SIMAP similar genes for MT-ND2 using alignment to 1 protein entry: NU2M_HUMAN:NADH2 clone 82-2 ND2
MT-ND2 for paralogs About GeneDecksing
5/38 Pseudogenes.org Pseudogenes for MT-ND2 (see all 38)
PGOHUM00000238521 PGOHUM00000238684 PGOHUM00000242450 PGOHUM00000239418 PGOHUM00000248705
|
Genomic Variants
for MT-ND2 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
Human Gene Mutation Database (HGMD): MT-ND2
| SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for MT-ND2 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
MT-ND2 for disorders About GeneDecksing
OMIM gene information: 516001
OMIM disorders: --
UniProtKB/Swiss-Prot: NU2M_HUMAN, P03891
Defects in MT-ND2 are a cause of Leber hereditary optic neuropathy (LHON) [MIM:535000]. LHON is a maternallyinherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiacconduction defects and neurological defects have also been described in some patients. LHON results from primarymitochondrial DNA mutations affecting the respiratory chain complexes Defects in MT-ND2 may be associated with susceptibility to Alzheimer disease mitochondrial (AD-MT)[MIM:502500]. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss ofcognitive 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 neurotoxicamyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequentialsecretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derivedfrom APP, are also implicated in neuronal death
20/36  diseases for MT-ND2 (see all 36): About MalaCardsmitochondrial dna-associated leigh syndrome and narp leber hereditary optic neuropathy age related macular degeneration optic neuritis
macular degeneration myocardial infarction acute myocardial infarction neuritis
pulmonary function peripheral neuropathy sporadic breast cancer renal cell carcinoma
neuropathy bipolar disorder multiple myeloma multiple sclerosis
kidney disease parkinson's disease breast cancer oral cancer
2 Novoseek disease relationships for MT-ND2 gene About this table
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| somatic mutations |
34.3 |
1 |
16404428 (1) |
| cancer |
0 |
1 |
12679003 (1) |
GeneTests: MT-ND2
Mitochondrial DNA-Associated Leigh Syndrome and NARPLeber Hereditary Optic Neuropathy
Genetic Association Database (GAD): MT-ND2
Export disorders for MT-ND2 gene to outside databases
|
Publications
for MT-ND2 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for MT-ND2 gene, integrated from 9 sources (see all 95):
(articles sorted by number of sources associating them with MT-ND2) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Longevity-associated NADH dehydrogenase subunit-2 polymorphism and serum electrolyte levels in middle-aged obese Japanese men. (PubMed id 15888325)1, 4, 9 Kokaze A....Takashima Y. (2005)
- Association of a 5178C-->A (Leu237Met) polymorphism in the mitochondrial DNA with a low prevalence of myocardial infarction in Japanese individuals. (PubMed id 15262184)1, 4, 9 Takagi K....Tanaka M. (2004)
- Departure from neutrality at the mitochondrial NADH dehydrogenase subunit 2 gene in humans, but not in chimpanzees. (PubMed id 9475751)1, 2, 9 Wise C.A.... Easteal S. (1998)
- The association of mitochondrial DNA 5178 C > a polymorphism with plasma lipid levels among three ethnic groups. (PubMed id 16266403)1, 4, 9 Lal S....Heng C.K. (2005)
- Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population. (PubMed id 15975594)1, 4 Huerta C....Alvarez V. (2005)
- Longevity-associated mitochondrial DNA 5178 C/A polymorphism is associated with fasting plasma glucose levels and glucose tolerance in Japanese men. (PubMed id 16271520)1, 4 Kokaze A....Takashima Y. (2005)
- Interaction between longevity-associated mitochondrial DNA 5178 C/A polymorphism and cigarette smoking on hematological parameters in Japanese men. (PubMed id 15680495)1, 4 Kokaze A....Takashima Y. (2005)
- Detection of mtDNA with 4977 bp deletion in blood cells and atherosclerotic lesions of patients with coronary artery disease. (PubMed id 15680405)1, 4 Botto N....Andreassi M.G. (2005)
- Mitochondrial DNA polymorphisms and extraversion. (PubMed id 15211636)1, 4 Kato C....Sasaki T. (2004)
- Longevity-associated mitochondrial DNA 5178 A/C polymorphism is associated with intraocular pressure in Japanese men. (PubMed id 15068427)1, 4 Kokaze A....Takashima Y. (2004)
|
External Searches for MT-ND2 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing MT-ND2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing MT-ND2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing MT-ND2 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for MT-ND2 | Pharmacogenomics, SNPs, Pathways | | GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MT-ND2 |
|
| | |
About This Section
| Patent Information for MT-ND2 gene:
Search GeneIP for patents involving MT-ND2
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for MT-ND2 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section
|
 | |
 |
| | | | |
 |
 |
|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MT-ND2 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MT-ND2 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MT-ND2 | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MT-ND2 | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MT-ND2 | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MT-ND2 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for MT-ND2 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | MT-ND2 Proteins, Antibodies, CLIAs, and ELISAs |
| | | |  |  |  |  | | | | ThermoFisher Antibody for MT-ND2 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MT-ND2 |
| |  | |
|
|
|
