Human Gene NDUFA2 (ENST00000252102.9_7) from GENCODE V47lift37
  Description: NADH:ubiquinone oxidoreductase subunit A2, transcript variant 3 (from RefSeq NR_033697.2)
Gencode Transcript: ENST00000252102.9_7
Gencode Gene: ENSG00000131495.9_8
Transcript (Including UTRs)
   Position: hg19 chr5:140,024,870-140,027,215 Size: 2,346 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr5:140,025,172-140,027,168 Size: 1,997 Coding Exon Count: 3 

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

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:140,024,870-140,027,215)mRNA (may differ from genome)Protein (99 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NDUA2_HUMAN
DESCRIPTION: RecName: Full=NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2; AltName: Full=Complex I-B8; Short=CI-B8; AltName: Full=NADH-ubiquinone oxidoreductase B8 subunit;
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.

-  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: NDUFA2
Diseases sorted by gene-association score: leigh syndrome* (281), leigh syndrome with leukodystrophy* (67), orbital cancer (11), multiple cranial nerve palsy (9), glossopharyngeal nerve disease (7), factor x deficiency (5)
* = 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: 0.94 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 18.52 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 -6.0047-0.128 Picture PostScript Text
3' UTR -83.20302-0.275 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
IPR016464 - NADH_Ub_cplx-1_asu_su-2
IPR007741 - Ribosome/NADH_DH
IPR012336 - Thioredoxin-like_fold

Pfam Domains:
PF05047 - Mitochondrial ribosomal protein L51 / S25 / CI-B8 domain

SCOP Domains:
52833 - Thioredoxin-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1S3A - NMR MuPIT


ModBase Predicted Comparative 3D Structure on O43678
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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 orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  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:0031966 mitochondrial membrane
GO:0070469 respiratory chain


-  Descriptions from all associated GenBank mRNAs
  LP895537 - Sequence 401 from Patent EP3253886.
AF047185 - Homo sapiens NADH-ubiquinone oxidoreductase subunit CI-B8 mRNA, complete cds.
AF077029 - Homo sapiens NADH-ubiquinone oxidoreductase B8 subunit mRNA, nuclear gene encoding mitochondrial protein, complete cds.
JD391205 - Sequence 372229 from Patent EP1572962.
JD506683 - Sequence 487707 from Patent EP1572962.
BC003674 - Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa, mRNA (cDNA clone MGC:12315 IMAGE:4044385), complete cds.
JD305646 - Sequence 286670 from Patent EP1572962.
JD500737 - Sequence 481761 from Patent EP1572962.
JD040050 - Sequence 21074 from Patent EP1572962.
JD064749 - Sequence 45773 from Patent EP1572962.
KJ904515 - Synthetic construct Homo sapiens clone ccsbBroadEn_13909 NDUFA2 gene, encodes complete protein.
CR457016 - Homo sapiens full open reading frame cDNA clone RZPDo834H035D for gene CD14, CD14 antigen; complete cds, incl. stopcodon.
AK311095 - Homo sapiens cDNA, FLJ18137.

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

Reactome (by CSHL, EBI, and GO)

Protein O43678 (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: D6RJD6, ENST00000252102.1, ENST00000252102.2, ENST00000252102.3, ENST00000252102.4, ENST00000252102.5, ENST00000252102.6, ENST00000252102.7, ENST00000252102.8, NDUA2_HUMAN, NR_033697, O43678, Q6IAY8, uc317fgb.1, uc317fgb.2
UCSC ID: ENST00000252102.9_7
RefSeq Accession: NM_002488.5
Protein: O43678 (aka NDUA2_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene NDUFA2:
leigh-nucl-ov (Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview)

-  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.