Ndufa2 NADH:ubiquinone oxidoreductase subunit A2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndufa2provided by MGI
Official Full Name: NADH:ubiquinone oxidoreductase subunit A2provided by MGI
Primary source: MGI:MGI:1343103
See related: Ensembl:ENSMUSG00000014294 AllianceGenome:MGI:1343103
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: B8; C1-B8; CI-B8
Summary: This gene encodes a subunit of the NADH-ubiquinone oxidoreductase (complex I) enzyme, which is a large, multimeric protein. It is the first enzyme complex in the mitochondrial electron transport chain and catalyzes the transfer of electrons from NADH to the electron acceptor ubiquinone. The proton gradient created by electron transfer drives the conversion of ADP to ATP. The human ortholog of this gene has been characterized, and its structure and redox potential is reported to be similar to that of thioredoxins. It may be involved in regulating complex I activity or assembly via assistance in redox processes. In humans, mutations in this gene are associated with Leigh syndrome, an early-onset progressive neurodegenerative disorder. A pseudogene of this gene is located on chromosome 5. [provided by RefSeq, May 2013]
Expression: Ubiquitous expression in kidney adult (RPKM 129.3), heart adult (RPKM 108.5) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 B2; 18 19.46 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (36875385..36877640, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (36742332..36744587, complement)

Chromosome 18 - NC_000084.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

The authors use green fluorescent-tagged complex I subunits to determine the kinetics of assembly. Tagged human NDUFA2 may incorporate into the holo-complex I enzyme as an assembly intermediate or as free monomers. The authors conclude that nuclear-encoded subunits incorporate into the holo-enzyme in a subunit-specific manner.
Title: Subunit-specific incorporation efficiency and kinetics in mitochondrial complex I homeostasis.
The authors determine the NMR structure of the oxidized human NDUFA2 protein, also known as B8, and report that its structure and redox potential is similar to that of thioredoxins. The highly conserved residues on the surface most likely form the protein-protein interaction site of this subunit with the large multimeric complex I.
Title: The oxidized subunit B8 from human complex I adopts a thioredoxin fold.
differentially expressed in the brains of four mice strains; expression pattern follows ethanol preference of the strains [(NADH-ubiquinone oxidoreductase B8 subunit]
Title: Genetics and differential expression of NADH:ubiquinone oxidoreductase B8 subunit in brains of genetic strains of mice differing in voluntary alcohol consumption.

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ndufa2 (e-PCR), detects polymorphism
- UniSTS:471092

AV000592 (e-PCR)
- UniSTS:181090

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables NADH dehydrogenase (ubiquinone) activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
acts_upstream_of_or_within blastocyst hatching	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial respiratory chain complex I assembly	ISO Inferred from Sequence Orthology more info
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial membrane	ISO Inferred from Sequence Orthology more info
part_of mitochondrial respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of mitochondrial respiratory chain complex I	ISO Inferred from Sequence Orthology more info
part_of mitochondrial respiratory chain complex I	TAS Traceable Author Statement more info	PubMed
located_in mitochondrion	HDA more info	PubMed
located_in respirasome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2

Names: NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2; NADH-ubiquinone oxidoreductase B8 subunit; complex I-B8

NP_035015.2

EC 7.1.1.2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.