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FLASH GENE
Symbol NDUFS2 contributors: mct - updated : 28-08-2008
HGNC name NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
HGNC id 7708
Corresponding disease
NDUFS2 hypertrophic cardiomyopathy and/or encephalomyopathy
Location 1q23      Physical location : 161.169.104 - 161.184.182
Synonym name
  • iron-sulfur protein 2,complex 1 of the respiratory chain
  • NADH-ubiquinone oxidoreductase 49 kDa subunit
  • complex I-49kD
  • ubiquinoneiron-sulfur protein 2, mitochondrial
    • Synonym symbol(s) NUCM, CI-49kD
    EC.number 1.6.99.3, 1.6.5.3
    DNA
    TYPE functioning gene
    STRUCTURE 15.00 kb     15 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    Physical map
    SLAMF7 1q23.1-q24.1 SLAM family member 7 LY9 1q21.3-q22 lymphocyte antigen 9 CD244 1q23.1 CD244 natural killer cell receptor 2B4 ITLN1 1q21.3 intelectin 1 (galactofuranose binding) LOC284679 1q23.1 similar to spermine synthase; spermidine aminopropyltransferase ITLN2 1q22-q23.5 intelectin 2 F11R 1q21.2-q21.3 F11 receptor USF1 1q22-q23 upstream transcription factor 1 LOC388708 1 similar to KAT protein LOC257106 1q23.1 hypothetical protein LOC257106 LNIR MGC33338 1q23.1 hypothetical protein MGC33338 PFDN2 1q23.1 prefoldin 2 NIT1 1q21-q22 nitrilase 1 DEDD 1q21.3 death effector domain containing HSPC155 1q23.1 hypothetical protein HSPC155 USP21 1q22 ubiquitin specific protease 21 PPOX 1q22 protoporphyrinogen oxidase B4GALT3 1q21-q23 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3 ADAMTS4 1q23 a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4 NDUFS2 1q23 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) FCER1G 1q23 Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide APOA2 1q21-q23 apolipoprotein A-II FLJ12770 1q23.1 hypothetical protein FLJ12770 NR1I3 1q23.1 nuclear receptor subfamily 1, group I, member 3 MPZ 1q22 myelin protein zero (Charcot-Marie-Tooth neuropathy 1B) SDHC 1q21 succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa LOC257177 1q23.1 similar to hypothetical protein MGC20470 LOC148430 1q23.1 similar to ribosomal protein S2; 40S ribosomal protein S2 LOC388709 1 LOC388709 LOC388710 1 LOC388710
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    15 - 2059 52 463 - Vogel (2007)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Endocrineadrenal gland   highly
    Nervousnerve   highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • respiratory chain NADH domain
    • secondary structure forty different subunits
    HOMOLOGY
    interspecies homolog to murine T26a5.3
    Homologene
    FAMILY
  • complex 1, 49kDa subunit family
    • CATEGORY enzyme , transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    basic FUNCTION
  • NADH ubiquinone oxidoreductase (Q reductase)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text iron sulfur electron transfer carrier
    PATHWAY
    metabolism
    signaling
    a component component of the complex I multisubunit enzyme of the oxidative phosphorylation (OXPHOS)
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • iron-sulfur 4Fe-4S cluster
    • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFS2
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS