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

Gene ID: 226646, updated on 9-Mar-2023

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
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Genomic context

See Ndufs2 in Genome Data Viewer
Location:
1; 1 H3
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (171062422..171078956, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (171234853..171251686, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene translocase of outer mitochondrial membrane 40-like Neighboring gene apolipoprotein A-II Neighboring gene Fc receptor, IgE, high affinity I, gamma polypeptide Neighboring gene a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 4 Neighboring gene UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 3 Neighboring gene protoporphyrinogen oxidase

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (1)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC27667

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 IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
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
PubMed 
part_of mitochondrial respiratory chain complex I ISO
Inferred from Sequence Orthology
more info
 
located_in mitochondrion HDA 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

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_694704.1
XP_030109284.1

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)

  1. NM_153064.5NP_694704.1  NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial precursor

    See identical proteins and their annotated locations for NP_694704.1

    Status: VALIDATED

    Source sequence(s)
    AC084821, AK078474, BY105246
    Consensus CDS
    CCDS15484.1
    UniProtKB/Swiss-Prot
    Q91WD5, Q99L23
    UniProtKB/TrEMBL
    A0A8C6I098
    Related
    ENSMUSP00000013737.7, ENSMUST00000013737.13
    Conserved Domains (1) summary
    PRK06075
    Location:74463
    PRK06075; NADH-quinone oxidoreductase subunit D

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    171062422..171078956 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/Swiss-Prot
    Q99L23
    UniProtKB/TrEMBL
    A0A8C6I098
    Conserved Domains (1) summary
    PRK06075
    Location:74463
    PRK06075; NADH-quinone oxidoreductase subunit D