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FLASH GENE
Symbol NDUFV2 contributors: mct - updated : 01-03-2011
HGNC name NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
HGNC id 7717
Corresponding disease
NDUFV2 hypertrophic cardiomyopathy with encephalopathy
Location 18p11.22      Physical location : 9.102.627 - 9.134.342
Synonym symbol(s) UOR2
EC.number 1.6.5.3
DNA
TYPE functioning gene
STRUCTURE 31.72 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
FLJ35936 18p11.31-p11.23 hypothetical protein FLJ35936 LOC388460 18 similar to 60S ribosomal protein L6 (TAX-responsive enhancer element binding protein 107) (TAXREB107) (Neoplasm-related protein C140) LOC388461 18 LOC388461 LOC388462 18 similar to KIAA1314 protein LAMA1 18p11.32-p11.22 laminin, alpha 1 LOC390828 18 similar to mitochondrial carrier triple repeat 1 LOC339291 18p11.23 similar to RIKEN cDNA 2610040E16 PTPRM 18p11.2 protein tyrosine phosphatase, receptor type, M FLJ11996 18p11.22 hypothetical protein FLJ11996 LOC125831 18p11.22 similar to constitutive photomorphogenic protein LOC390829 18 similar to Aldose reductase (AR) (Aldehyde reductase) LOC201475 18p11.22 similar to Rab12 protein KIAA0802 18p11.21 similar to Rab12 protein LOC390830 18 similar to ribosomal protein S4, X-linked NDUFV2 18p11.22-p11.21 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa KIAA0874 TWSG1 18p11.3-p11.2 twisted gastrulation homolog 1 (Drosophila) RALBP1 18p11.3 ralA binding protein 1 PPP4R1 18p11.22 protein phosphatase 4, regulatory subunit 1 LOC125242 18p11.22 similar to Keratin, type I cytoskeletal 18 (Cytokeratin 18) (K18) (CK 18) RAB31 18p11.31-p11.22 RAB31, member RAS oncogene family TXNDC2 18p11.31-p11.2 thioredoxin domain containing 2 (spermatozoa) VAPA 18p11.21 VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa APCDD1 18p11.21 adenomatosis polyposis coli down-regulated 1 NAPG 18p11.21 N-ethylmaleimide-sensitive factor attachment protein, gamma LOC390831 18 similar to Phosphomannomutase 2 (PMM 2) FLJ23403 18p11.21 hypothetical protein FLJ23403 LOC342843 18p11.21 similar to hypothetical protein LOC284221 18p11.21 hypothetical protein LOC284221 FLJ34907 18p11.21 hypothetical protein FLJ34907 LOC388463 18 similar to acyl-malonyl condensing enzyme LOC388464 18 hypothetical gene supported by D86974 GNAL 18p11.31 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type CHMP1.5 18p11.21 CHMP1.5 protein MPPE1 18p11.21-p11.1 CHMP1.5 protein IMPA2 18p11.22-p11.21 inositol(myo)-1(or 4)-monophosphatase 2 LOC284226 18p11.21 similar to Kinesin-like protein KIF1C
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 937 - 249 - 1995 7488192
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Reproductivefemale systemuteruscervix highly
 male systemprostate  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal  
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • carrying a binuclear iron-sulfure cluster
  • HOMOLOGY
    Homologene
    FAMILY
  • complex1, 24 kda subunit family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • NADH ubiquinone dehydrogenase (Q reductase), involved in transfer of electrons from NADH to the respiratory chain
  • part of a large multisubunit assembly of the mitochondrial inner membrane that channels high-energy electrons from metabolic NADH into the electron transport chain (ETC)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFV2
    related resource MITOP database
    Susceptibility
  • to Parkinson disease
  • to bipolar disorder
  • Variant & Polymorphism SNP
  • rs6506640 (-342G > A) and rs906807 (86C > T) was found to be associated with bipolar disorder
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS