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Aliases for NDUFS2 Gene

Aliases for NDUFS2 Gene

  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2, 49kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH-Ubiquinone Oxidoreductase 49 KDa Subunit 3 4
  • Complex I 49kDa Subunit 2 3
  • Complex I-49kD 3 4
  • CI-49kD 3 4
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2 (49kD) (NADH-Coenzyme Q Reductase) 2
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 2, Mitochondrial 3
  • Complex 1, Mitochondrial Respiratory Chain, 49-KD Subunit 3
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 2 2
  • NADH-Ubiquinone Oxidoreductase NDUFS2 Subunit 3
  • Mitochondrial 2
  • EC 64
  • EC 4
  • EC 4
  • CI-49 3

External Ids for NDUFS2 Gene

Summaries for NDUFS2 Gene

Entrez Gene Summary for NDUFS2 Gene

  • The protein encoded by this gene is a core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (complex I). Mammalian mitochondrial complex I is composed of at least 43 different subunits, 7 of which are encoded by the mitochondrial genome, and the rest are the products of nuclear genes. The iron-sulfur protein fraction of complex I is made up of 7 subunits, including this gene product. Complex I catalyzes the NADH oxidation with concomitant ubiquinone reduction and proton ejection out of the mitochondria. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

GeneCards Summary for NDUFS2 Gene

NDUFS2 (NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2, 49kDa (NADH-Coenzyme Q Reductase)) is a Protein Coding gene. Diseases associated with NDUFS2 include tricuspid valve prolapse and mitochondrial complex i deficiency. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and 4 iron, 4 sulfur cluster binding.

UniProtKB/Swiss-Prot for NDUFS2 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 NDUFS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFS2 Gene

Genomics for NDUFS2 Gene

Genomic Location for NDUFS2 Gene

161,197,104 bp from pter
161,214,395 bp from pter
17,292 bases
Plus strand

Genomic View for NDUFS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFS2 Gene

Regulatory Elements for NDUFS2 Gene

Proteins for NDUFS2 Gene

  • Protein details for NDUFS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
    Protein Accession:
    Secondary Accessions:
    • D3DVG7
    • J3KPM7
    • Q5VTW0
    • Q969P3
    • Q9UEV3

    Protein attributes for NDUFS2 Gene

    463 amino acids
    Molecular mass:
    52546 Da
    Name=[4Fe-4S] cluster; Xref=ChEBI:CHEBI:49883; Note=Binds 1 [4Fe-4S] cluster.;
    Quaternary structure:
    • Complex I is composed of 45 different subunits. Component of the iron-sulfur (IP) fragment of the enzyme. Interacts with NDUFAF3 and NDUFAF7.

    Alternative splice isoforms for NDUFS2 Gene


neXtProt entry for NDUFS2 Gene

Proteomics data for NDUFS2 Gene at MOPED

Post-translational modifications for NDUFS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFS2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for NDUFS2 Gene

Gene Families for NDUFS2 Gene

  • comI :Mitochondrial respiratory chain complex / Complex I


  • Belongs to the complex I 49 kDa subunit family.:
    • O75306
genes like me logo Genes that share domains with NDUFS2: view

Function for NDUFS2 Gene

Molecular function for NDUFS2 Gene

GENATLAS Biochemistry: NADH ubiquinone oxidoreductase (Q reductase) component of the complex I multisubunit enzyme of the oxidative phosphorylation (OXPHOS),iron-sulfur protein 2,49kDa
UniProtKB/Swiss-Prot CatalyticActivity: NADH + ubiquinone + 5 H(+)(In) = NAD(+) + ubiquinol + 4 H(+)(Out)
UniProtKB/Swiss-Prot CatalyticActivity: NADH + acceptor = NAD(+) + reduced acceptor
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 NDUFS2 Gene

Gene Ontology (GO) - Molecular Function for NDUFS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003954 contributes_to NADH dehydrogenase activity IMP 14749350
GO:0005515 protein binding IPI 15250827
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9647766
GO:0009055 electron carrier activity NAS 9647766
GO:0016651 oxidoreductase activity, acting on NAD(P)H --
genes like me logo Genes that share ontologies with NDUFS2: view

miRNA for NDUFS2 Gene

miRTarBase miRNAs that target NDUFS2

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for NDUFS2 Gene

Localization for NDUFS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFS2 Gene

Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.

Subcellular locations from

Jensen Localization Image for NDUFS2 Gene COMPARTMENTS Subcellular localization image for NDUFS2 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for NDUFS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion NAS 9647766
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
genes like me logo Genes that share ontologies with NDUFS2: view

Pathways for NDUFS2 Gene

genes like me logo Genes that share pathways with NDUFS2: view

Gene Ontology (GO) - Biological Process for NDUFS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 9647766
GO:0006979 response to oxidative stress IDA 12857734
GO:0022904 respiratory electron transport chain TAS --
GO:0044237 cellular metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with NDUFS2: view

Compounds for NDUFS2 Gene

(9) HMDB Compounds for NDUFS2 Gene

Compound Synonyms Cas Number PubMed IDs
  • 1H-Purin-6-amine flavin dinucleotide
  • Armco iron
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
  • 1,4-Dihydronicotinamide adenine dinucleotide
  • CoQH2

(2) Drugbank Compounds for NDUFS2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
  • Adria
23214-92-8 enzyme
  • beta-DPNH
606-68-8 target
genes like me logo Genes that share compounds with NDUFS2: view

Transcripts for NDUFS2 Gene

Unigene Clusters for NDUFS2 Gene

NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFS2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d · 4e ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b ^
SP1: - - -
SP2: -
SP3: - - -
SP4: - - - -
SP5: - - -
SP6: - - - -
SP7: - -
SP8: -
SP9: - -
SP10: - - -

ExUns: 16 ^ 17a · 17b · 17c ^ 18
SP1: - -

Relevant External Links for NDUFS2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NDUFS2 Gene

mRNA expression in normal human tissues for NDUFS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFS2 Gene

SOURCE GeneReport for Unigene cluster for NDUFS2 Gene Hs.173611

genes like me logo Genes that share expressions with NDUFS2: view

Orthologs for NDUFS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NDUFS2 36
  • 99.86 (n)
  • 99.78 (a)
  • 100 (a)
(Bos Taurus)
Mammalia NDUFS2 36
  • 91.43 (n)
  • 95.03 (a)
  • 95 (a)
(Canis familiaris)
Mammalia NDUFS2 36
  • 90.21 (n)
  • 94.17 (a)
  • 94 (a)
(Mus musculus)
Mammalia Ndufs2 36
  • 89.49 (n)
  • 92.44 (a)
Ndufs2 16
Ndufs2 37
  • 92 (a)
(Monodelphis domestica)
Mammalia NDUFS2 37
  • 92 (a)
(Rattus norvegicus)
Mammalia Ndufs2 36
  • 89.27 (n)
  • 92.44 (a)
(Gallus gallus)
Aves NDUFS2 36
  • 77.12 (n)
  • 92.9 (a)
  • 96 (a)
(Anolis carolinensis)
Reptilia NDUFS2 37
  • 91 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24727 36
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76312 36
ndufs2 36
  • 73.86 (n)
  • 86.71 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8341 36
(Danio rerio)
Actinopterygii ndufs2 36
  • 76.3 (n)
  • 85.78 (a)
ndufs2 37
  • 80 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006891 36
  • 67.78 (n)
  • 76 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG11913 37
  • 51 (a)
CG1970 36
  • 67.19 (n)
  • 76.34 (a)
CG11913 38
  • 62 (a)
CG1970 38
  • 73 (a)
(Caenorhabditis elegans)
Secernentea gas-1 36
  • 67.44 (n)
  • 73.64 (a)
gas-1 37
  • 61 (a)
nduf-2.2 37
  • 63 (a)
gas-1 38
  • 73 (a)
T26A5.3 38
  • 73 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons nad7 36
  • 62.53 (n)
  • 71.06 (a)
(Hordeum vulgare)
Liliopsida Hv.4434 36
bread mold
(Neurospora crassa)
Ascomycetes NCU02534 36
  • 65.73 (n)
  • 72.01 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5737 36
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2674 37
  • 67 (a)
Species with no ortholog for NDUFS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • 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 NDUFS2 Gene

Gene Tree for NDUFS2 (if available)
Gene Tree for NDUFS2 (if available)

Paralogs for NDUFS2 Gene

No data available for Paralogs for NDUFS2 Gene

Variants for NDUFS2 Gene

Sequence variations from dbSNP and Humsavar for NDUFS2 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type MAF
rs2501876 -- 161,212,694(-) TAATC(C/T)CAGCT intron-variant
rs3813624 -- 161,201,187(+) TCCCA(C/T)AGCTA upstream-variant-2KB, intron-variant
rs3924264 -- 161,208,894(-) AATGC(A/G)GCATT intron-variant
rs4564157 -- 161,208,365(+) gcata(A/G)tcttg intron-variant
rs4656993 -- 161,206,347(+) TTGCT(A/G)TCTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NDUFS2 Gene

Variant ID Type Subtype PubMed ID
esv32799 CNV Gain 17666407

Relevant External Links for NDUFS2 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for NDUFS2 Gene

(1) OMIM Diseases for NDUFS2 Gene (602985)


  • Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. {ECO:0000269 PubMed:11220739}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for NDUFS2 Gene

Relevant External Links for NDUFS2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with NDUFS2: view

Publications for NDUFS2 Gene

  1. Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory complex I and immunodetection of the mature protein in mitochondria. (PMID: 9585441) Procaccio V. … Issartel J.-P. (Mamm. Genome 1998) 2 3 4
  2. cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. (PMID: 9647766) Loeffen J. … Smeitink J. (Biochem. Biophys. Res. Commun. 1998) 3 4
  3. NADH:ubiquinone oxidoreductase from bovine heart mitochondria. cDNA sequences of the import precursors of the nuclear-encoded 39 kDa and 42 kDa subunits. (PMID: 1832859) Fearnley I.M. … Walker J.E. (Biochem. J. 1991) 2 3
  4. Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy. (PMID: 11220739) Loeffen J. … van den Heuvel L. (Ann. Neurol. 2001) 3 4
  5. The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification. (PMID: 12611891) Murray J. … Capaldi R.A. (J. Biol. Chem. 2003) 3 4

Products for NDUFS2 Gene

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat
  • Pathway & Disease-focused RT² Profiler PCR Arrays
  • QIAGEN qRT-PCR Assays for microRNAs that regulate NDUFS2
  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat
  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFS2
  • Block miRNA regulation of NDUFS2 using miScript Target Protectors

Sources for NDUFS2 Gene

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