Ndufv2 NADH:ubiquinone oxidoreductase core subunit V2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndufv2provided by MGI
Official Full Name: NADH:ubiquinone oxidoreductase core subunit V2provided by MGI
Primary source: MGI:MGI:1920150
See related: Ensembl:ENSMUSG00000024099 AllianceGenome:MGI:1920150
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: 2900010C23Rik
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. This gene is a core subunit and is conserved in prokaryotes and eukaryotes. The bovine ortholog of this protein has been characterized and is reported to contain an iron-sulfur cluster, which may be involved in electron transfer. In humans 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 pseudogene of this gene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]
Expression: Ubiquitous expression in heart adult (RPKM 109.5), testis adult (RPKM 63.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 17 35.26 cM; 17 E1.1

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (66385790..66408554, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (66078795..66101559, complement)

Chromosome 17 - NC_000083.7 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?

Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2.
Title: Sex-specific genetic regulation of adipose mitochondria and metabolic syndrome by Ndufv2.
The results of this study indicated that ndufv2 knockdown influences the actin cytoskeleton and tubulin stabilization in the leading process of migrating cortical neurons
Title: NDUFV2 regulates neuronal migration in the developing cerebral cortex through modulation of the multipolar-bipolar transition.
The authors biochemically separate the NADH dehydrogenase module from complex I of bovine heart into subunit I, II and III fractions. Subunit II fraction, also known as the NADH dehydrogenase (ubiquinone) flavoprotein 2 protein, has a molecular weight of 24 000 Da and contains an iron-sulfur center.
Title: Resolution of mitochondrial NADH dehydrogenase and isolation of two iron-sulfur proteins.
The authors use green fluorescent-tagged complex I subunits to determine the kinetics of assembly. Tagged human NDUFV2 can replace the endogenous protein in the holo-complex I protein and was also found in complex I subassemblies, suggesting that NDUFV2 may directly incorporate into the holo-enzyme and may also assemble into smaller complexes or in a monomer pool.
Title: Subunit-specific incorporation efficiency and kinetics in mitochondrial complex I homeostasis.
The authors provide an overview of the function and assembly of human complex I, also known as NADH dehydrogenase (ubiquinone) 1 alpha subcomplex. They discuss its role in oxidative phosphorylation and the implications of complex I deficiency in disease.
Title: Molecular base of biochemical complex I deficiency.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Transposon induced (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 2 iron, 2 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables NADH dehydrogenase (ubiquinone) activity	IDA Inferred from Direct Assay more info	PubMed
contributes_to NADH dehydrogenase (ubiquinone) activity	ISO Inferred from Sequence Orthology more info
enables NADH dehydrogenase (ubiquinone) activity	ISO Inferred from Sequence Orthology more info
contributes_to NADH dehydrogenase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in cardiac muscle tissue development	IEA Inferred from Electronic Annotation more info
involved_in cardiac muscle tissue development	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial electron transport, NADH to ubiquinone	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitochondrial electron transport, NADH to ubiquinone	IDA Inferred from Direct Assay more info	PubMed
involved_in mitochondrial electron transport, NADH to ubiquinone	ISO Inferred from Sequence Orthology more info
involved_in nervous system development	IEA Inferred from Electronic Annotation more info
involved_in nervous system development	ISO Inferred from Sequence Orthology more info
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in proton transmembrane transport	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in mitochondrial inner membrane	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrial inner membrane	ISO Inferred from Sequence Orthology more info
located_in mitochondrial inner membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in mitochondrion	HDA more info	PubMed
is_active_in mitochondrion	IDA Inferred from Direct Assay more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in myelin sheath	HDA more info	PubMed
part_of respiratory chain complex I	IBA Inferred from Biological aspect of Ancestor more info
part_of respiratory chain complex I	IDA Inferred from Direct Assay more info	PubMed
part_of respiratory chain complex I	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial

Names: NADH dehydrogenase (ubiquinone) flavoprotein 2; NADH-ubiquinone oxidoreductase 24 kDa subunit

NP_001265344.1

EC 7.1.1.2

NP_082664.1

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.

mRNA and Protein(s)

NM_001278415.1 → NP_001265344.1 NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial isoform 2

See identical proteins and their annotated locations for NP_001265344.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and 5' coding region and uses a downstream start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK146998, AK150404, BY246389, CF106105

Consensus CDS

CCDS70836.1

UniProtKB/Swiss-Prot

Q9D6J6

Related

ENSMUSP00000024909.10, ENSMUST00000024909.15

Conserved Domains (1) summary

pfam01257
Location:1 → 112

2Fe-2S_thioredx; Thioredoxin-like [2Fe-2S] ferredoxin
NM_028388.3 → NP_082664.1 NADH dehydrogenase [ubiquinone] flavoprotein 2, mitochondrial isoform 1 precursor

See identical proteins and their annotated locations for NP_082664.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AK146998, BY246389

Consensus CDS

CCDS37679.1

UniProtKB/Swiss-Prot

Q3U9L9, Q8BU07, Q8K2L0, Q9D6J6

Related

ENSMUSP00000121557.2, ENSMUST00000143987.9

Conserved Domains (1) summary

pfam01257
Location:62 → 208

2Fe-2S_thioredx; Thioredoxin-like [2Fe-2S] ferredoxin