Human Gene NDUFV2 (ENST00000318388.11_4) from GENCODE V47lift37
  Description: NADH:ubiquinone oxidoreductase core subunit V2 (from RefSeq NM_021074.5)
Gencode Transcript: ENST00000318388.11_4
Gencode Gene: ENSG00000178127.13_8
Transcript (Including UTRs)
   Position: hg19 chr18:9,102,697-9,134,339 Size: 31,643 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr18:9,102,742-9,134,277 Size: 31,536 Coding Exon Count: 8 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr18:9,102,697-9,134,339)mRNA (may differ from genome)Protein (249 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NDUV2_HUMAN
DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial; EC=1.6.5.3; EC=1.6.99.3; AltName: Full=NADH-ubiquinone oxidoreductase 24 kDa subunit; Flags: Precursor;
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).
CATALYTIC ACTIVITY: NADH + ubiquinone = NAD(+) + ubiquinol.
CATALYTIC ACTIVITY: NADH + acceptor = NAD(+) + reduced acceptor.
COFACTOR: Binds 1 2Fe-2S cluster (Potential).
SUBUNIT: Complex I is composed of 45 different subunits. This is a component of the flavoprotein-sulfur (FP) fragment of the enzyme.
SUBCELLULAR LOCATION: Mitochondrion inner membrane.
SIMILARITY: Belongs to the complex I 24 kDa subunit family.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NDUFV2
Diseases sorted by gene-association score: mitochondrial complex i deficiency* (231), leigh syndrome with leukodystrophy* (132), bipolar disorder (5), schizophrenia (3), leigh syndrome (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 63.58 RPKM in Heart - Left Ventricle
Total median expression: 1366.68 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.2045-0.271 Picture PostScript Text
3' UTR -3.1062-0.050 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002023 - 2Fe-2S_Ferredox
IPR012336 - Thioredoxin-like_fold

Pfam Domains:
PF01257 - Thioredoxin-like [2Fe-2S] ferredoxin

SCOP Domains:
52833 - Thioredoxin-like

ModBase Predicted Comparative 3D Structure on P19404
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003954 NADH dehydrogenase activity
GO:0005515 protein binding
GO:0008137 NADH dehydrogenase (ubiquinone) activity
GO:0009055 electron carrier activity
GO:0016491 oxidoreductase activity
GO:0046872 metal ion binding
GO:0051536 iron-sulfur cluster binding
GO:0051537 2 iron, 2 sulfur cluster binding

Biological Process:
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0007399 nervous system development
GO:0032981 mitochondrial respiratory chain complex I assembly
GO:0048738 cardiac muscle tissue development
GO:0055114 oxidation-reduction process

Cellular Component:
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0005747 mitochondrial respiratory chain complex I
GO:0016020 membrane
GO:0043209 myelin sheath
GO:0070469 respiratory chain
GO:0045272 plasma membrane respiratory chain complex I


-  Descriptions from all associated GenBank mRNAs
  AK312129 - Homo sapiens cDNA, FLJ92411, Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa(NDUFV2), mRNA.
BC001632 - Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa, mRNA (cDNA clone MGC:2144 IMAGE:3536345), complete cds.
BC017487 - Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa, mRNA (cDNA clone MGC:15943 IMAGE:3537815), complete cds.
M22538 - Human nuclear-encoded mitochondrial NADH-ubiquinone reductase 24Kd subunit mRNA, complete cds.
AK291865 - Homo sapiens cDNA FLJ78041 complete cds, highly similar to Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), mRNA.
AB590136 - Synthetic construct DNA, clone: pFN21AE1378, Homo sapiens NDUFV2 gene for NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa, without stop codon, in Flexi system.
BC071689 - Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa, mRNA (cDNA clone MGC:87932 IMAGE:4372795), complete cds.
DQ895813 - Synthetic construct Homo sapiens clone IMAGE:100010273; FLH187898.01L; RZPDo839E04149D NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2) gene, encodes complete protein.
DQ892593 - Synthetic construct clone IMAGE:100005223; FLH187902.01X; RZPDo839E04150D NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2) gene, encodes complete protein.
KJ891684 - Synthetic construct Homo sapiens clone ccsbBroadEn_01078 NDUFV2 gene, encodes complete protein.
CR456928 - Homo sapiens full open reading frame cDNA clone RZPDo834G1215D for gene NDUFV2, NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa; complete cds, incl. stopcodon.
DL492013 - Novel nucleic acids.
DL490565 - Novel nucleic acids.
AF147367 - Homo sapiens full length insert cDNA clone YB64B12.

-  Biochemical and Signaling Pathways
  BioCyc Knowledge Library
PWY-3781 - aerobic respiration I (cytochrome c)

Reactome (by CSHL, EBI, and GO)

Protein P19404 (Reactome details) participates in the following event(s):

R-HSA-6800870 NDUF subunits bind to form the FP subcomplex
R-HSA-6799179 Peripheral arm subunits bind the 815kDa complex to form a 980kDa complex
R-HSA-6799196 The MCIA complex, NDUFAF2-7 all dissociate from the 980kDa complex, resulting in Complex I
R-HSA-163217 Complex I oxidises NADH to NAD+, reduces CoQ to QH2
R-HSA-6799198 Complex I biogenesis
R-HSA-611105 Respiratory electron transport
R-HSA-163200 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
R-HSA-1428517 The citric acid (TCA) cycle and respiratory electron transport
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000318388.1, ENST00000318388.10, ENST00000318388.2, ENST00000318388.3, ENST00000318388.4, ENST00000318388.5, ENST00000318388.6, ENST00000318388.7, ENST00000318388.8, ENST00000318388.9, NDUFV2 , NDUV2_HUMAN, NM_021074, P19404, Q9BV41, uc317qlx.1, uc317qlx.2
UCSC ID: ENST00000318388.11_4
RefSeq Accession: NM_021074.5
Protein: P19404 (aka NDUV2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.