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Aliases for NDUFS2 Gene

Aliases for NDUFS2 Gene

  • NADH:Ubiquinone Oxidoreductase Core Subunit S2 2 3 5
  • NADH Dehydrogenase (Ubiquinone) Fe-S Protein 2, 49kDa (NADH-Coenzyme Q Reductase) 2 3
  • NADH Dehydrogenase [Ubiquinone] Iron-Sulfur Protein 2, Mitochondrial 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
  • Complex 1, Mitochondrial Respiratory Chain, 49-KD Subunit 3
  • NADH-Ubiquinone Oxidoreductase NDUFS2 Subunit 3
  • EC 1.6.99.5 58
  • 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:Ubiquinone Oxidoreductase Core Subunit S2) is a Protein Coding gene. Diseases associated with NDUFS2 include Mitochondrial Complex I Deficiency and Leigh Syndrome With Leukodystrophy. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include ubiquitin protein ligase binding and NADH dehydrogenase (ubiquinone) activity.

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 (PubMed:12611891).

Gene Wiki entry for NDUFS2 Gene

Additional gene information for NDUFS2 Gene

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

Genomics for NDUFS2 Gene

Regulatory Elements for NDUFS2 Gene

Enhancers for NDUFS2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H161196 1.8 FANTOM5 ENCODE dbSUPER 11.7 +3.0 2967 8 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF143 DUSP12 B4GALT3 USP21 PPOX LOC100287049 NDUFS2 ADAMTS4 DCAF8 NIT1 TOMM40L
GH01H161213 1 ENCODE 18.7 +20.1 20061 6 PKNOX1 FOXA2 MLX ARID4B DMAP1 YY1 ATF7 RUNX3 PAF1 SP5 B4GALT3 NDUFS2 CFAP126 MPZ SDHC DEDD TOMM40L FCER1G NCSTN ADAMTS4
GH01H161381 1.5 FANTOM5 Ensembl ENCODE dbSUPER 11.6 +185.7 185720 2 CTCF ZNF654 REST ATF2 RAD21 RFX5 ZBTB48 HMBOX1 ZNF143 SMC3 SDHC NR1I3 APOA2 TOMM40L ADAMTS4 NDUFS2 MPZ RRM2P2 ENSG00000283696
GH01H161304 1 ENCODE 11.9 +109.3 109349 2 HDGF PKNOX1 ATF1 YY1 ZNF143 ATF7 SP5 REST SMARCB1 ZNF592 FCER1G NDUFS2 NR1I3 APOA2 TOMM40L PCP4L1 SDHC FCGR2C MPZ LOC105371472
GH01H161386 1 FANTOM5 dbSUPER 11.6 +189.6 189624 0 PKNOX1 SP3 STAT1 L3MBTL2 HLF RELA CTBP1 STAT2 ZNF341 ADAMTS4 NDUFS2 SDHC NR1I3 APOA2 TOMM40L MPZ FCER1G ATF6 FCRLB
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NDUFS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for NDUFS2 Gene

Chromosome:
1
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

Genes around NDUFS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    Quaternary structure:
    • Complex I is composed of 45 different subunits. Component of the iron-sulfur (IP) fragment of the enzyme (PubMed:12611891). Interacts with NDUFAF3 (PubMed:19463981). Interacts with NDUFAF7 (PubMed:20406883, PubMed:24089531).

    Alternative splice isoforms for NDUFS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFS2 Gene

Selected DME Specific Peptides for NDUFS2 Gene

O75306:
  • LHRGTEKLIE
  • SMESLIHHFKL
  • GGVHQDLP
  • SGARMHA
  • ADVVAIIG
  • NFGPQHPAAHG
  • DPHIGLLHR
  • AYIRPGG
  • MSKGHML
  • HPAAHGVLR
  • KTYLQALPY
  • HFKLYTEG
  • GDCYDRY
  • IIGTQDIVFGE
  • GLLHRGTEKL
  • IHHFKLYT
  • PKGEFGVY

Post-translational modifications for NDUFS2 Gene

  • Dimethylation at Arg-118 by NDUFAF7 takes place after NDUFS2 assembles into the complex I, leading to stabilize the early intermediate complex (PubMed:24089531, PubMed:24838397).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFS2 Gene

Domains & Families for NDUFS2 Gene

Gene Families for NDUFS2 Gene

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

Graphical View of Domain Structure for InterPro Entry

O75306

UniProtKB/Swiss-Prot:

NDUS2_HUMAN :
  • Belongs to the complex I 49 kDa subunit family.
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 (PubMed:12611891).

Enzyme Numbers (IUBMB) for NDUFS2 Gene

Phenotypes From GWAS Catalog 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:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with NDUFS2: view
genes like me logo Genes that share phenotypes with NDUFS2: view

Human Phenotype Ontology for NDUFS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NDUFS2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Animal Models , Transcription Factor Targets 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
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 NDUFS2 gene
Compartment Confidence
mitochondrion 5
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion NAS 9647766
GO:0005743 mitochondrial inner membrane IEA --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0005759 mitochondrial matrix TAS --
genes like me logo Genes that share ontologies with NDUFS2: view

Pathways & Interactions 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 TAS --
GO:0006979 response to oxidative stress IDA 12857734
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0042775 mitochondrial ATP synthesis coupled electron transport IMP 24746669
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFS2: view

No data available for SIGNOR curated interactions for NDUFS2 Gene

Drugs & Compounds for NDUFS2 Gene

(8) Drugs for NDUFS2 Gene - From: DrugBank, FDA Approved Drugs, and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Doxorubicin Approved, Investigational Pharma Enzyme Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1784
Doxil Approved June 1999 Pharma DNA intercalator and TOPO II inhibitor, Topoisomerase 2 Inhibitors 1785
FAD Approved Pharma 0
Ubiquinone-1 Experimental Pharma 0
Ubiquinone-2 Experimental Pharma 0

(5) Additional Compounds for NDUFS2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Fe2+
  • Armco iron
  • Carbonyl iron
  • FE
  • Ferrovac e
  • Hematite
15438-31-0
QH(2)
QH2
  • Coenzymes QH2
  • CoQH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • Sulfanediide
  • Sulfide
  • Sulfur
  • Sulphide
18496-25-8
Ubiquinol 8
  • Ubiquinol(8)
  • Ubiquinol-8
56275-39-9
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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for NDUFS2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for NDUFS2 Gene

Protein differential expression in normal tissues from HIPED for NDUFS2 Gene

This gene is overexpressed in Heart (17.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NDUFS2 Gene



Protein tissue co-expression partners for NDUFS2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NDUFS2 Gene:

NDUFS2

SOURCE GeneReport for Unigene cluster for NDUFS2 Gene:

Hs.173611

Evidence on tissue expression from TISSUES for NDUFS2 Gene

  • Liver(4.7)
  • Muscle(4.6)
  • Nervous system(4.6)
  • Skin(3.5)
  • Intestine(3.2)
  • Lung(3.1)
  • Heart(2.8)
  • Eye(2.5)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
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:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
  • sweat gland
genes like me logo Genes that share expression patterns with NDUFS2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
chimpanzee
(Pan troglodytes)
Mammalia NDUFS2 34 33
  • 99.86 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFS2 34
  • 92 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NDUFS2 33 34
  • 91.43 (n)
dog
(Canis familiaris)
Mammalia NDUFS2 34 33
  • 90.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufs2 33 16 34
  • 89.49 (n)
rat
(Rattus norvegicus)
Mammalia Ndufs2 33
  • 89.27 (n)
chicken
(Gallus gallus)
Aves NDUFS2 33 34
  • 77.12 (n)
lizard
(Anolis carolinensis)
Reptilia NDUFS2 34
  • 91 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufs2 33
  • 73.86 (n)
MGC76312 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.24727 33
zebrafish
(Danio rerio)
Actinopterygii ndufs2 33 34
  • 76.3 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8341 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006891 33
  • 67.78 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG1970 33 35
  • 67.19 (n)
CG11913 34 35
  • 51 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T26A5.3 35
  • 73 (a)
gas-1 35 33 34
  • 67.44 (n)
nduf-2.2 34
  • 63 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons nad7 33
  • 62.53 (n)
barley
(Hordeum vulgare)
Liliopsida Hv.4434 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2674 34
  • 67 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU02534 33
  • 65.73 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.5737 33
Species where no ortholog for NDUFS2 was found in the sources mined by GeneCards:
  • 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
rs121434427 Pathogenic, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 161,209,912(+) TATCC(A/G)GCCAG reference, missense
rs121434428 Pathogenic, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 161,209,915(+) CCGGC(A/C)AGGAG reference, missense
rs121434429 Pathogenic, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] 161,213,673(+) TGGTG(C/T)CTGAT upstream-variant-2KB, reference, missense
rs150667550 Likely pathogenic 161,210,599(+) AGTGA(C/T)GCTTC reference, missense
rs863224105 Likely pathogenic 161,213,661(+) TTGGG(A/G)TGTAC upstream-variant-2KB, reference, missense

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

Variant ID Type Subtype PubMed ID
esv32799 CNV gain 17666407

Variation tolerance for NDUFS2 Gene

Residual Variation Intolerance Score: 42.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.09; 75.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NDUFS2 Gene

Human Gene Mutation Database (HGMD)
NDUFS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFS2

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

Disorders for NDUFS2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for NDUFS2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency
  • mitochondrial complex 1 deficiency
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leber optic atrophy
  • leber hereditary optic neuropathy
leigh syndrome
  • leigh syndrome due to mitochondrial complex i deficiency
tricuspid valve prolapse
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for NDUFS2

Genetic Association Database (GAD)
NDUFS2
Human Genome Epidemiology (HuGE) Navigator
NDUFS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NDUFS2
genes like me logo Genes that share disorders with NDUFS2: view

No data available for 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 (Mammalian genome : official journal of the International Mammalian Genome Society 1998) 2 3 4 60
  2. NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I. (PMID: 24089531) Rhein VF … Walker JE (The Journal of biological chemistry 2013) 3 4 60
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 45 60
  5. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 45 60

Products for NDUFS2 Gene

Sources for NDUFS2 Gene

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