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Aliases for NDUFA2 Gene

Aliases for NDUFA2 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A2 2 3 5
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 2, 8kDa 2 3
  • Complex I B8 Subunit 2 3
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 2 (8kD, B8) 2
  • NADH-Ubiquinone Oxidoreductase Subunit CI-B8 3
  • NADH-Ubiquinone Oxidoreductase B8 Subunit 4
  • Complex I-B8 4
  • CI-B8 4
  • CD14 3
  • CIB8 3
  • B8 3

External Ids for NDUFA2 Gene

Previous GeneCards Identifiers for NDUFA2 Gene

  • GC05M139841
  • GC05M140008
  • GC05M140053
  • GC05M140005
  • GC05M135170

Summaries for NDUFA2 Gene

Entrez Gene Summary for NDUFA2 Gene

  • The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex 1), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane, and may be involved in regulating complex I activity or its assembly via assistance in redox processes. Mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

GeneCards Summary for NDUFA2 Gene

NDUFA2 (NADH:Ubiquinone Oxidoreductase Subunit A2) is a Protein Coding gene. Diseases associated with NDUFA2 include leigh syndrome and leigh syndrome with leukodystrophy. Among its related pathways are Metabolism and A-beta Pathways: Uptake and Degradation. GO annotations related to this gene include NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot for NDUFA2 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.

Gene Wiki entry for NDUFA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFA2 Gene

Genomics for NDUFA2 Gene

Regulatory Elements for NDUFA2 Gene

Promoters for NDUFA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NDUFA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFA2 Gene

Chromosome:
5
Start:
140,638,740 bp from pter
End:
140,647,785 bp from pter
Size:
9,046 bases
Orientation:
Minus strand

Genomic View for NDUFA2 Gene

Genes around NDUFA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA2 Gene

Proteins for NDUFA2 Gene

  • Protein details for NDUFA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43678-NDUA2_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2
    Protein Accession:
    O43678
    Secondary Accessions:
    • D6RJD6
    • Q6IAY8

    Protein attributes for NDUFA2 Gene

    Size:
    99 amino acids
    Molecular mass:
    10922 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.

    Three dimensional structures from OCA and Proteopedia for NDUFA2 Gene

    Alternative splice isoforms for NDUFA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFA2 Gene

Proteomics data for NDUFA2 Gene at MOPED

Post-translational modifications for NDUFA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFA2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NDUFA2 Gene

Domains & Families for NDUFA2 Gene

Protein Domains for NDUFA2 Gene

Suggested Antigen Peptide Sequences for NDUFA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with NDUFA2: view

No data available for UniProtKB/Swiss-Prot for NDUFA2 Gene

Function for NDUFA2 Gene

Molecular function for NDUFA2 Gene

GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase (Q reductase),8kDa,component alpha 2,hydrophobic fraction of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.
genes like me logo Genes that share phenotypes with NDUFA2: view

Human Phenotype Ontology for NDUFA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA2 Gene

Localization for NDUFA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA2 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFA2 Gene COMPARTMENTS Subcellular localization image for NDUFA2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for NDUFA2 Gene

Pathways & Interactions for NDUFA2 Gene

SuperPathways for NDUFA2 Gene

Superpath Contained pathways
1 MyD88 cascade initiated on plasma membrane
2 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
3 Diseases associated with the TLR signaling cascade
4 Toll-like receptor signaling pathway
5 Toll Comparative Pathway
genes like me logo Genes that share pathways with NDUFA2: view

Gene Ontology (GO) - Biological Process for NDUFA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with NDUFA2: view

No data available for SIGNOR curated interactions for NDUFA2 Gene

Drugs & Compounds for NDUFA2 Gene

(5) Drugs for NDUFA2 Gene - From: 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 0
NAD Pharma Full agonist, Agonist 0

(3) Additional Compounds for NDUFA2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
genes like me logo Genes that share compounds with NDUFA2: view

Transcripts for NDUFA2 Gene

mRNA/cDNA for NDUFA2 Gene

(2) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(4) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for NDUFA2 Gene

NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA2 Gene

No ASD Table

Relevant External Links for NDUFA2 Gene

GeneLoc Exon Structure for
NDUFA2
ECgene alternative splicing isoforms for
NDUFA2

Expression for NDUFA2 Gene

mRNA expression in normal human tissues for NDUFA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFA2 Gene

This gene is overexpressed in Heart (6.7) and Brain (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFA2 Gene



SOURCE GeneReport for Unigene cluster for NDUFA2 Gene Hs.75914

genes like me logo Genes that share expression patterns with NDUFA2: view

Protein tissue co-expression partners for NDUFA2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFA2 Gene

Orthologs for NDUFA2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFA2 35
  • 89.56 (n)
  • 93.94 (a)
-- 36
  • 87 (a)
OneToMany
-- 36
  • 91 (a)
OneToMany
NDUFA2 36
  • 94 (a)
OneToMany
dog
(Canis familiaris)
Mammalia NDUFA2 35
  • 86.87 (n)
  • 85.86 (a)
NDUFA2 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufa2 35
  • 83.5 (n)
  • 85.86 (a)
Ndufa2 16
Ndufa2 36
  • 86 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFA2 35
  • 98.32 (n)
  • 95.96 (a)
NDUFA2 36
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufa2 35
  • 83.68 (n)
  • 85.42 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFA2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA2 36
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFA2 35
  • 71.87 (n)
  • 66.67 (a)
NDUFA2 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFA2 36
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufa2 35
  • 69.79 (n)
  • 73.96 (a)
zebrafish
(Danio rerio)
Actinopterygii ndufa2 35
  • 68.71 (n)
  • 67.35 (a)
ndufa2 36
  • 65 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003367 35
  • 57.83 (n)
  • 54.22 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15434 35
  • 57.38 (n)
  • 50.63 (a)
CG15434 36
  • 43 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea Y63D3A.7 36
  • 49 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G47890 35
  • 51.61 (n)
  • 51.61 (a)
rice
(Oryza sativa)
Liliopsida Os04g0310500 35
  • 62.08 (n)
  • 47.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 52 (a)
OneToOne
Species with no ortholog for NDUFA2:
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NDUFA2 Gene

ENSEMBL:
Gene Tree for NDUFA2 (if available)
TreeFam:
Gene Tree for NDUFA2 (if available)

Paralogs for NDUFA2 Gene

Pseudogenes.org Pseudogenes for NDUFA2 Gene

genes like me logo Genes that share paralogs with NDUFA2: view

No data available for Paralogs for NDUFA2 Gene

Variants for NDUFA2 Gene

Sequence variations from dbSNP and Humsavar for NDUFA2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_036174 A breast cancer sample

Variation tolerance for NDUFA2 Gene

Residual Variation Intolerance Score: 69.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.41; 9.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFA2 Gene

HapMap Linkage Disequilibrium report
NDUFA2
Human Gene Mutation Database (HGMD)
NDUFA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for NDUFA2 Gene

Disorders for NDUFA2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for NDUFA2 Gene - From: OMIM, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
nuclear gene-encoded leigh syndrome
orbital cancer
  • malignant neoplasm of orbit
multiple cranial nerve palsy
  • multiple cranial nerve palsies
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for NDUFA2

Genetic Association Database (GAD)
NDUFA2
Human Genome Epidemiology (HuGE) Navigator
NDUFA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFA2
genes like me logo Genes that share disorders with NDUFA2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NDUFA2 Gene

Publications for NDUFA2 Gene

  1. Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits. (PMID: 9425316) Ton C. … Liew C.-C. (Biochem. Biophys. Res. Commun. 1997) 2 3 4 67
  2. The oxidized subunit B8 from human complex I adopts a thioredoxin fold. (PMID: 15341729) Brockmann C. … Oschkinat H. (Structure 2004) 3 23
  3. Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping. (PMID: 9763676) Emahazion T. … Brookes A.J. (Cytogenet. Cell Genet. 1998) 2 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Panorama of ancient metazoan macromolecular complexes. (PMID: 26344197) Wan C. … Emili A. (Nature 2015) 3

Products for NDUFA2 Gene

Sources for NDUFA2 Gene

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