Human Gene NDUFB2 (uc003vwa.3)
  Description: Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa (NDUFB2), nuclear gene encoding mitochondrial protein, mRNA.
RefSeq Summary (NM_004546): The protein encoded by this gene is a subunit of the multisubunit NADH:ubiquinone oxidoreductase (complex I). Mammalian complex I is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It plays a important role in transfering electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. Hydropathy analysis revealed that this subunit and 4 other subunits have an overall hydrophilic pattern, even though they are found within the hydrophobic protein (HP) fraction of complex I. [provided by RefSeq, Jul 2008].
Transcript (Including UTRs)
   Position: hg19 chr7:140,396,481-140,406,446 Size: 9,966 Total Exon Count: 4 Strand: +
Coding Region
   Position: hg19 chr7:140,396,545-140,404,734 Size: 8,190 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsPathwaysOther NamesModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:140,396,481-140,406,446)mRNA (may differ from genome)Protein (105 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NDUB2_HUMAN
DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrial; AltName: Full=Complex I-AGGG; Short=CI-AGGG; AltName: Full=NADH-ubiquinone oxidoreductase AGGG subunit; Flags: Precursor;
FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in 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.
SUBUNIT: Complex I is composed of 45 different subunits.
SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
SIMILARITY: Belongs to the complex I NDUFB2 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): NDUFB2
CDC HuGE Published Literature: NDUFB2

-  MalaCards Disease Associations
  MalaCards Gene Search: NDUFB2
Diseases sorted by gene-association score: intraneural perineurioma (1)

-  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: 49.66 RPKM in Heart - Left Ventricle
Total median expression: 1083.60 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -16.4064-0.256 Picture PostScript Text
3' UTR -23.70113-0.210 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
IPR026627 - NDUFB2

Pfam Domains:
PF14813 - NADH dehydrogenase 1 beta subcomplex subunit 2

ModBase Predicted Comparative 3D Structure on O95178
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-  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 orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsemblFlyBaseWormBase 
 Protein SequenceProtein SequenceProtein SequenceProtein Sequence 
 AlignmentAlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0008137 NADH dehydrogenase (ubiquinone) activity

Biological Process:
GO:0006120 mitochondrial electron transport, NADH to ubiquinone
GO:0032981 mitochondrial respiratory chain complex I assembly
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:0070469 respiratory chain


-  Descriptions from all associated GenBank mRNAs
  AF067166 - Homo sapiens NADH-ubiquinone oxidoreductase AGGG subunit precursor homolog mRNA, nuclear gene encoding mitochondrial protein, complete cds.
AF050639 - Homo sapiens NADH-ubiquinone oxidoreductase AGGG subunit mRNA, nuclear gene encoding mitochondrial protein, complete cds.
JD108998 - Sequence 90022 from Patent EP1572962.
BC063026 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa, mRNA (cDNA clone MGC:70788 IMAGE:6064434), complete cds.
BC001168 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa, mRNA (cDNA clone IMAGE:3534386).
JD470655 - Sequence 451679 from Patent EP1572962.
JD408137 - Sequence 389161 from Patent EP1572962.
CR542121 - Homo sapiens full open reading frame cDNA clone RZPDo834B0423D for gene NDUFB2, NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa; complete cds, incl. stopcodon.
JD026705 - Sequence 7729 from Patent EP1572962.
KJ901596 - Synthetic construct Homo sapiens clone ccsbBroadEn_10990 NDUFB2 gene, encodes complete protein.
BC065735 - Homo sapiens cDNA clone IMAGE:30369327, partial cds.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00190 - Oxidative phosphorylation
hsa01100 - Metabolic pathways
hsa05010 - Alzheimer's disease
hsa05012 - Parkinson's disease
hsa05016 - Huntington's disease

BioCyc Knowledge Library
PWY-3781 - aerobic respiration -- electron donor II
PWY0-1334 - NADH to cytochrome bd oxidase electron transfer
PWY0-1335 - NADH to cytochrome bo oxidase electron transfer

Reactome (by CSHL, EBI, and GO)

Protein O95178 (Reactome details) participates in the following event(s):

R-HSA-6799178 Intermediate 1 binds HP subcomplex to form Intermediate 2
R-HSA-6799191 Intermediate 2 binds MT-ND1:NDUFAF5:NDUFAF6 to form a 315kDa subcomplex
R-HSA-6799202 The 315kDa subcomplex binds the 370kDa subcomplex to form the 550kDa complex
R-HSA-6799197 ND4, ND5 bind the 550kDa complex to form the 815kDa complex
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: NDUB2_HUMAN, NM_004546, NP_004537, O95178, Q6FGI6
UCSC ID: uc003vwa.3
RefSeq Accession: NM_004546
Protein: O95178 (aka NDUB2_HUMAN)
CCDS: CCDS5862.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_004546.2
exon count: 4CDS single in 3' UTR: no RNA size: 509
ORF size: 318CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 836.00frame shift in genome: no % Coverage: 97.25
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.