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Aliases for NDUFV2 Gene

Aliases for NDUFV2 Gene

  • NADH Dehydrogenase (Ubiquinone) Flavoprotein 2, 24kDa 2 3
  • NADH-Ubiquinone Oxidoreductase 24 KDa Subunit 3 4
  • Complex I 24kDa Subunit 2 3
  • Nuclear-Encoded Mitochondrial NADH-Ubiquinone Reductase 24Kd Subunit 3
  • NADH Dehydrogenase [Ubiquinone] Flavoprotein 2, Mitochondrial 3
  • NADH Dehydrogenase Ubiquinone Flavoprotein 2, Mitochondrial 3
  • Complex I, Mitochondrial Respitory Chain, 24 KD Subunit 3
  • NADH Dehydrogenase (Ubiquinone) Flavoprotein 2 (24kD) 2
  • NADH Dehydrogenase [Ubiquinone] Flavoprotein 2 2
  • NADH-Ubiquinone Oxidoreductase Flavoprotein 2 3
  • Mitochondrial 2
  • EC 1.6.99.3 4
  • EC 1.6.5.3 4
  • CI-24k 3

External Ids for NDUFV2 Gene

Summaries for NDUFV2 Gene

Entrez Gene Summary for NDUFV2 Gene

  • The NADH-ubiquinone oxidoreductase complex (complex I) of the mitochondrial respiratory chain catalyzes the transfer of electrons from NADH to ubiquinone, and consists of at least 43 subunits. The complex is located in the inner mitochondrial membrane. This gene encodes the 24 kDa subunit of complex I, and is involved in electron transfer. Mutations in this gene are implicated in Parkinson's disease, bipolar disorder, schizophrenia, and have been found in one case of early onset hypertrophic cardiomyopathy and encephalopathy. A non-transcribed pseudogene of this locus is found on chromosome 19. [provided by RefSeq, Oct 2009]

GeneCards Summary for NDUFV2 Gene

NDUFV2 (NADH Dehydrogenase (Ubiquinone) Flavoprotein 2, 24kDa) is a Protein Coding gene. Diseases associated with NDUFV2 include mitochondrial complex i deficiency and bipolar disorder. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and 2 iron, 2 sulfur cluster binding.

UniProtKB/Swiss-Prot for NDUFV2 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 NDUFV2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFV2 Gene

Genomics for NDUFV2 Gene

Genomic Location for NDUFV2 Gene

Start:
9,102,630 bp from pter
End:
9,134,345 bp from pter
Size:
31,716 bases
Orientation:
Plus strand

Genomic View for NDUFV2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NDUFV2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFV2 Gene

Regulatory Elements for NDUFV2 Gene

Proteins for NDUFV2 Gene

  • Protein details for NDUFV2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P19404-NDUV2_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial
    Protein Accession:
    P19404
    Secondary Accessions:
    • Q9BV41

    Protein attributes for NDUFV2 Gene

    Size:
    249 amino acids
    Molecular mass:
    27392 Da
    Cofactor:
    Name=[2Fe-2S] cluster; Xref=ChEBI:CHEBI:49601; Note=Binds 1 [2Fe-2S] cluster.;
    Quaternary structure:
    • Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme.

neXtProt entry for NDUFV2 Gene

Proteomics data for NDUFV2 Gene at MOPED

Post-translational modifications for NDUFV2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NDUFV2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFV2 Gene

Domains for NDUFV2 Gene

Gene Families for NDUFV2 Gene

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

Protein Domains for NDUFV2 Gene

Graphical View of Domain Structure for InterPro Entry

P19404

UniProtKB/Swiss-Prot:

NDUV2_HUMAN
Family:
  • Belongs to the complex I 24 kDa subunit family.:
    • P19404
genes like me logo Genes that share domains with NDUFV2: view

Function for NDUFV2 Gene

Molecular function for NDUFV2 Gene

GENATLAS Biochemistry: NADH ubiquinone dehydrogenase (Q reductase),component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS),flavoprotein 2,inner mitochondrial membrane,involved in the susceptibility to Parkinson disease
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 NDUFV2 Gene

Gene Ontology (GO) - Molecular Function for NDUFV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity NAS 9570948
GO:0009055 electron carrier activity NAS 7488192
GO:0016491 oxidoreductase activity --
GO:0046872 metal ion binding IEA --
GO:0051537 2 iron, 2 sulfur cluster binding IEA --
genes like me logo Genes that share ontologies with NDUFV2: view

Phenotypes for NDUFV2 Gene

MGI mutant phenotypes for NDUFV2:
inferred from 1 alleles
GenomeRNAi human phenotypes for NDUFV2:
genes like me logo Genes that share phenotypes with NDUFV2: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for NDUFV2 Gene

Localization for NDUFV2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFV2 Gene

Mitochondrion inner membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NDUFV2 Gene COMPARTMENTS Subcellular localization image for NDUFV2 gene
Compartment Confidence
mitochondrion 5
nucleus 1

Gene Ontology (GO) - Cellular Components for NDUFV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 12754703
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I NAS 9878551
GO:0045272 NOT plasma membrane respiratory chain complex I IBA --
genes like me logo Genes that share ontologies with NDUFV2: view

Pathways for NDUFV2 Gene

genes like me logo Genes that share pathways with NDUFV2: view

Gene Ontology (GO) - Biological Process for NDUFV2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone NAS 9570948
GO:0007399 nervous system development IMP 9570948
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 NDUFV2: view

Compounds for NDUFV2 Gene

(8) HMDB Compounds for NDUFV2 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

(1) Drugbank Compounds for NDUFV2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
NADH
  • beta-DPNH
606-68-8 target
genes like me logo Genes that share compounds with NDUFV2: view

Transcripts for NDUFV2 Gene

Unigene Clusters for NDUFV2 Gene

NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFV2 Gene

No ASD Table

Relevant External Links for NDUFV2 Gene

GeneLoc Exon Structure for
NDUFV2
ECgene alternative splicing isoforms for
NDUFV2

Expression for NDUFV2 Gene

mRNA expression in normal human tissues for NDUFV2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NDUFV2 Gene

SOURCE GeneReport for Unigene cluster for NDUFV2 Gene Hs.464572

genes like me logo Genes that share expressions with NDUFV2: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFV2 Gene

Orthologs for NDUFV2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for NDUFV2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia -- 36
  • 96 (a)
OneToMany
NDUFV2 35
  • 99.6 (n)
  • 99.2 (a)
NDUFV2 36
  • 99 (a)
OneToMany
cow
(Bos Taurus)
Mammalia NDUFV2 35
  • 92.77 (n)
  • 96.39 (a)
NDUFV2 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NDUFV2 35
  • 94.65 (n)
  • 96.39 (a)
NDUFV2 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ndufv2 35
  • 90.46 (n)
  • 93.15 (a)
Ndufv2 16
Ndufv2 36
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NDUFV2 36
  • 81 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NDUFV2 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ndufv2 35
  • 89.11 (n)
  • 92.34 (a)
chicken
(Gallus gallus)
Aves NDUFV2 35
  • 79.28 (n)
  • 87.83 (a)
NDUFV2 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NDUFV2 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.20944 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ndufv2 35
  • 75.04 (n)
  • 85.9 (a)
Str.10186 35
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9087 35
zebrafish
(Danio rerio)
Actinopterygii ndufv2 35
  • 71.96 (n)
  • 81.55 (a)
ndufv2 36
  • 80 (a)
OneToOne
zgc73198 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002170 35
  • 63.05 (n)
  • 68.87 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG5703 35
  • 64.04 (n)
  • 71.76 (a)
CG5703 36
  • 65 (a)
OneToMany
CG6485 36
  • 44 (a)
OneToMany
CG6485 37
  • 50 (a)
CG5703 37
  • 72 (a)
worm
(Caenorhabditis elegans)
Secernentea CELE_F53F4.10 35
  • 64.89 (n)
  • 66.67 (a)
F53F4.10 36
  • 63 (a)
OneToOne
F53F4.10 37
  • 66 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G02580 35
  • 57.17 (n)
  • 51.69 (a)
rice
(Oryza sativa)
Liliopsida Os.11069 35
Os05g0509200 35
  • 54.85 (n)
  • 51.82 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01169 35
  • 59.64 (n)
  • 65.2 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5226 36
  • 72 (a)
OneToOne
Species with no ortholog for NDUFV2:
  • 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)
  • barley (Hordeum vulgare)
  • 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)
  • 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 NDUFV2 Gene

ENSEMBL:
Gene Tree for NDUFV2 (if available)
TreeFam:
Gene Tree for NDUFV2 (if available)

Paralogs for NDUFV2 Gene

Pseudogenes.org Pseudogenes for NDUFV2 Gene

genes like me logo Genes that share paralogs with NDUFV2: view

No data available for Paralogs for NDUFV2 Gene

Variants for NDUFV2 Gene

Sequence variations from dbSNP and Humsavar for NDUFV2 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs874250 -- 9,119,158(-) TTGAT(A/G)AGTAT intron-variant
rs906807 Uncertain significance, - 9,117,869(-) GCATA(A/G)CTGTC missense, reference, nc-transcript-variant
rs977581 -- 9,119,037(+) TCTAA(G/T)GAAGC intron-variant
rs1039825 -- 9,114,098(-) tgttt(A/C)agacc intron-variant
rs1156043 -- 9,102,331(-) ATAAA(G/T)TCGGG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for NDUFV2 Gene

Variant ID Type Subtype PubMed ID
esv2664728 CNV Deletion 23128226
nsv909364 CNV Loss 21882294

Relevant External Links for NDUFV2 Gene

HapMap Linkage Disequilibrium report
NDUFV2
Human Gene Mutation Database (HGMD)
NDUFV2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFV2 Gene

Disorders for NDUFV2 Gene

(1) OMIM Diseases for NDUFV2 Gene (600532)

(2) University of Copenhagen DISEASES for NDUFV2 Gene

Relevant External Links for NDUFV2

Genetic Association Database (GAD)
NDUFV2
Human Genome Epidemiology (HuGE) Navigator
NDUFV2
genes like me logo Genes that share disorders with NDUFV2: view

No data available for UniProtKB/Swiss-Prot for NDUFV2 Gene

Publications for NDUFV2 Gene

  1. Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene. (PMID: 7607668) de Coo R. … van Oost B. (Genomics 1995) 2 3 23
  2. Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease. (PMID: 9570948) Hattori N. … Mizuno Y. (Genomics 1998) 3 23
  3. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. (PMID: 12754703) BAcnit P. … Munnich A. (Hum. Mutat. 2003) 3 23
  4. Mitochondrial NADH-ubiquinone reductase: complementary DNA sequences of import precursors of the bovine and human 24-kDa subunit. (PMID: 2500970) Pilkington S.J. … Walker J.E. (Biochemistry 1989) 3 4
  5. Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain. (PMID: 9763677) Emahazion T. … Brookes A.J. (Cytogenet. Cell Genet. 1998) 2 3

Products for NDUFV2 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 NDUFV2
    • 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 NDUFV2
    • Block miRNA regulation of NDUFV2 using miScript Target Protectors

    Sources for NDUFV2 Gene

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