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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
    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