Ndufs2 NADH:ubiquinone oxidoreductase core subunit S2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ndufs2provided by MGI
Official Full Name: NADH:ubiquinone oxidoreductase core subunit S2provided by MGI
Primary source: MGI:MGI:2385112
See related: Ensembl:ENSMUSG00000013593 AllianceGenome:MGI:2385112
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CI-49kD
Summary: Enables NADH dehydrogenase (ubiquinone) activity and oxygen sensor activity. Involved in several processes, including cellular response to oxygen levels; gliogenesis; and mitochondrial respiratory chain complex I assembly. Located in mitochondrion. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Leigh disease; hypertrophic cardiomyopathy; inherited metabolic disorder; multiple sclerosis; and nuclear type mitochondrial complex I deficiency 6. Orthologous to human NDUFS2 (NADH:ubiquinone oxidoreductase core subunit S2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in heart adult (RPKM 305.9), kidney adult (RPKM 146.8) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 H3; 1 79.25 cM

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (171062426..171078956, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (171234853..171251686, complement)

Chromosome 1 - NC_000067.7 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?

Reduced expression of mitochondrial complex I subunit Ndufs2 does not impact healthspan in mice.
Title: Reduced expression of mitochondrial complex I subunit Ndufs2 does not impact healthspan in mice.
LASS2 regulates hepatocyte steatosis by interacting with NDUFS2/OXPHOS related proteins.
Title: LASS2 regulates hepatocyte steatosis by interacting with NDUFS2/OXPHOS related proteins.
Ndufs2 was identified as a redox-sensitive pulmonary vascular O2 sensor in hypoxic pulmonary vasoconstriction.
Title: Ndufs2, a Core Subunit of Mitochondrial Complex I, Is Essential for Acute Oxygen-Sensing and Hypoxic Pulmonary Vasoconstriction.
Ndufs2-null mice lose the hyperventilatory response to hypoxia, although they respond to hypercapnia. Ndufs2-deficient CB cells have normal functions and ATP content but are insensitive to changes in PO2.
Title: Oxygen Sensing by Arterial Chemoreceptors Depends on Mitochondrial Complex I Signaling.

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Variation

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Alleles

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

Targeted (1) 1 citation
Endonuclease-mediated (2)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH124203 (e-PCR)
- UniSTS:161025

Ndufs2 (e-PCR), detects polymorphism
- UniSTS:546891

Ndufs2 (e-PCR), detects polymorphism
- UniSTS:527442

Ndufs2 (e-PCR), detects polymorphism
- UniSTS:499184

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 4 iron, 4 sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables NAD binding	IEA Inferred from Electronic Annotation more info
enables NADH dehydrogenase (ubiquinone) activity	IMP Inferred from Mutant Phenotype more info	PubMed
contributes_to NADH dehydrogenase (ubiquinone) activity	ISO Inferred from Sequence Orthology more info
contributes_to NADH dehydrogenase activity	ISO Inferred from Sequence Orthology more info
enables iron-sulfur cluster binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on NAD(P)H	IEA Inferred from Electronic Annotation more info
enables oxygen sensor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables oxygen sensor activity	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables quinone binding	IEA Inferred from Electronic Annotation more info
enables ubiquitin protein ligase binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in aerobic respiration	NAS Non-traceable Author Statement more info	PubMed
involved_in cellular response to oxygen levels	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to oxygen levels	ISO Inferred from Sequence Orthology more info
involved_in gliogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrial ATP synthesis coupled electron transport	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	ISO Inferred from Sequence Orthology more info
involved_in mitochondrial respiratory chain complex I assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neural precursor cell proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in proton motive force-driven mitochondrial ATP synthesis	NAS Non-traceable Author Statement more info	PubMed
involved_in response to oxidative stress	ISO Inferred from Sequence Orthology more info

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
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
located_in mitochondrion	HDA more info	PubMed
located_in mitochondrion	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in respirasome	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial

Names: NADH dehydrogenase (ubiquinone) Fe-S protein 2; NADH-coenzyme Q reductase; NADH-ubiquinone oxidoreductase 49 kDa subunit; complex I-49kD

NP_001408411.1

EC 7.1.1.2

NP_694704.1

EC 7.1.1.2

XP_030109284.1

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_001421482.1 → NP_001408411.1 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 2

Status: VALIDATED

Source sequence(s)

AC084821

UniProtKB/TrEMBL

D3YXT0
NM_153064.6 → NP_694704.1 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform 1

See identical proteins and their annotated locations for NP_694704.1

Status: VALIDATED

Source sequence(s)

AC084821

Consensus CDS

CCDS15484.1

UniProtKB/Swiss-Prot

Q3TNA8, Q3U5Y9, Q3UJX7, Q91WD5, Q99L23

Related

ENSMUSP00000013737.7, ENSMUST00000013737.13

Conserved Domains (1) summary

PRK06075
Location:74 → 463

PRK06075; NADH-quinone oxidoreductase subunit D

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

171062426..171078956 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030253424.2 → XP_030109284.1 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial isoform X1

UniProtKB/Swiss-Prot

Q3TNA8, Q3U5Y9, Q3UJX7, Q91WD5, Q99L23

Conserved Domains (1) summary

PRK06075
Location:74 → 463

PRK06075; NADH-quinone oxidoreductase subunit D