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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 1.6.99.5 63
  • EC 1.6.99.3 4
  • EC 1.6.5.3 4
  • CI-49 3

External Ids for NDUFS2 Gene

Previous GeneCards Identifiers for NDUFS2 Gene

  • GC01P158880
  • GC01P156901
  • GC01P157946
  • GC01P158385
  • GC01P157983
  • GC01P159435
  • GC01P161166
  • GC01P132526

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

Regulatory Elements for NDUFS2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NDUFS2 Gene

Start:
161,197,104 bp from pter
End:
161,214,395 bp from pter
Size:
17,292 bases
Orientation:
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

Proteins for NDUFS2 Gene

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

    Protein Symbol:
    O75306-NDUS2_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
    Protein Accession:
    O75306
    Secondary Accessions:
    • D3DVG7
    • J3KPM7
    • Q5VTW0
    • Q969P3
    • Q9UEV3

    Protein attributes for NDUFS2 Gene

    Size:
    463 amino acids
    Molecular mass:
    52546 Da
    Cofactor:
    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

    UniProtKB/Swiss-Prot:

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:

Antibody Products

Domains for NDUFS2 Gene

Gene Families for NDUFS2 Gene

HGNC:
  • comI :Mitochondrial respiratory chain complex / Complex I

Graphical View of Domain Structure for InterPro Entry

O75306

UniProtKB/Swiss-Prot:

NDUS2_HUMAN :
  • O75306
Family:
  • Belongs to the complex I 49 kDa subunit family.
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

Animal Model Products

miRNA for NDUFS2 Gene

miRTarBase miRNAs that target NDUFS2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFS2

In Situ Assay Products

Flow Cytometry Products

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

COMPARTMENTS
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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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
FAD
  • 1H-Purin-6-amine flavin dinucleotide
146-14-5
Iron
  • Armco iron
7439-89-6
NAD
  • 3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate
53-84-9
NADH
  • 1,4-Dihydronicotinamide adenine dinucleotide
58-68-4
QH2
  • CoQH2
56275-39-9

(2) Drugbank Compounds for NDUFS2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Doxorubicin
  • Adria
23214-92-8 enzyme
NADH
  • 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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NDUFS2

Primer Products

Flow Cytometry Products

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: - - -
SP11:

ExUns: 16 ^ 17a · 17b · 17c ^ 18
SP1: - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for NDUFS2 Gene

GeneLoc Exon Structure for
NDUFS2
ECgene alternative splicing isoforms for
NDUFS2

Expression for NDUFS2 Gene

mRNA expression in normal human tissues for NDUFS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for NDUFS2 Gene

This gene is overexpressed in Heart (17.4).

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

Expression partners for NDUFS2 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFS2 Gene

Orthologs for NDUFS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFS2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NDUFS2 35
  • 91.43 (n)
  • 95.03 (a)
NDUFS2 36
  • 95 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFS2 35
  • 90.21 (n)
  • 94.17 (a)
NDUFS2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs2 35
  • 89.49 (n)
  • 92.44 (a)
Ndufs2 16
Ndufs2 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NDUFS2 35
  • 99.86 (n)
  • 99.78 (a)
NDUFS2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufs2 35
  • 89.27 (n)
  • 92.44 (a)
oppossum
(Monodelphis domestica)
Mammalia NDUFS2 36
  • 92 (a)
OneToOne
chicken
(Gallus gallus)
Aves NDUFS2 35
  • 77.12 (n)
  • 92.9 (a)
NDUFS2 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFS2 36
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia MGC76312 35
ndufs2 35
  • 73.86 (n)
  • 86.71 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24727 35
zebrafish
(Danio rerio)
Actinopterygii ndufs2 35
  • 76.3 (n)
  • 85.78 (a)
ndufs2 36
  • 80 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8341 35
fruit fly
(Drosophila melanogaster)
Insecta CG11913 37
  • 62 (a)
CG1970 37
  • 73 (a)
CG1970 35
  • 67.19 (n)
  • 76.34 (a)
CG11913 36
  • 51 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006891 35
  • 67.78 (n)
  • 76 (a)
worm
(Caenorhabditis elegans)
Secernentea gas-1 37
  • 73 (a)
T26A5.3 37
  • 73 (a)
gas-1 35
  • 67.44 (n)
  • 73.64 (a)
gas-1 36
  • 61 (a)
OneToMany
nduf-2.2 36
  • 63 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons nad7 35
  • 62.53 (n)
  • 71.06 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4434 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5737 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02534 35
  • 65.73 (n)
  • 72.01 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2674 36
  • 67 (a)
OneToOne
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

ENSEMBL:
Gene Tree for NDUFS2 (if available)
TreeFam:
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
NDUFS2
Human Gene Mutation Database (HGMD)
NDUFS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFS2 Gene

Disorders for NDUFS2 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NDUFS2 Gene in MalaCards »

(2) Diseases for NDUFS2 Gene including...

(1) OMIM Diseases for NDUFS2 Gene (602985)

UniProtKB/Swiss-Prot

NDUS2_HUMAN
  • 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)
NDUFS2
Human Genome Epidemiology (HuGE) Navigator
NDUFS2
genes like me logo Genes that share disorders with NDUFS2: view

No data available for Novoseek inferred disease relationships and Genatlas for NDUFS2 Gene

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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