Ndufs2 Gene Detail

Summary

• Symbol
  Ndufs2
• Name
  NADH dehydrogenase (ubiquinone) Fe-S protein 2
• Synonyms
  MGC:27667

• Feature Type
  protein coding gene
• IDs
  MGI:2385112
  NCBI Gene: 226646
• Gene Overview
  MyGene.info: NDUFS2

Location & Maps

• Sequence Map
  Chr1:171234853-171251388 bp, - strand
• From VEGA annotation of GRCm38
  

  Mouse Genome Browser
  
  

• Download
  Sequence
    16536 bp   ±  kb flank
  
  
• Genome Browsers
  VEGA | Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 1, 79.25 cM
• Mapping Data
  2 experiments

Homology

• Human Ortholog
  NDUFS2, NADH:ubiquinone oxidoreductase core subunit S2

• Vertebrate Orthologs
  10

• Human Ortholog
  NDUFS2, NADH:ubiquinone oxidoreductase core subunit S2
  Orthology source: HomoloGene, HGNC
• Synonyms
  CI-49
• Links
  HGNC:7708

  NCBI Gene ID: 4720

  neXtProt AC: NX_O75306

  
  
• Chr Location
  1q23; chr1:161197419-161214395 (+)  GRCh38.p2

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• HomoloGene
  Vertebrate Homology Class 56659
  1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  
• HCOP
  human homology predictions: NDUFS2
• Protein SuperFamily
  [NiFe]-hydrogenase-3-type complex, large subunit/NADH:quinone oxidoreductase (complex I), 49K/NdhH/NuoD subunit
• Gene Tree
  Ndufs2
  

Human Diseases

• Diseases
  1 with human NDUFS2 associations

				Human Disease	Mouse Models
				Mitochondrial Complex I Deficiency   OMIM: 252010

Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  6 phenotype references
  

• All Mutations and Alleles
  23
• Chemically induced (other)
  2
• Gene trapped
  21
• Genomic Mutations
  2 involving Ndufs2
• Incidental Mutations
  Mutagenetix , APF

Gene Ontology
(GO)
Classifications

• All GO Annotations
  21
• GO References
  6

• External Resources
  FuncBase

Expression

• Assay Results
  98
• Tissues
  98
• cDNA Data
  314
• Literature Summary
  4

Images

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
• Other Vertebrate Links
  Xenbase ndufs2

Interactions

• Ndufs2 interacts with 40 markers (Mir1b, Mir32, Mir92-2, ...) View All

Sequences &
Gene Models

• All Sequences
  71
• RefSeq
  2
• UniProt
  4
• CCDS
  CCDS15484.1
• UniGene
  21669

• VEGA
  OTTMUSG00000021571 (Evidence)
• Ensembl
  ENSMUSG00000013593 (Evidence)
• NCBI Gene
  226646

Representative Sequences			Length	Strain/Species
genomic	OTTMUSG00000021571	VEGA Gene Model | MGI Sequence Detail	16536	C57BL/6J
transcript	OTTMUST00000051199	VEGA | MGI Sequence Detail	1623	Not Applicable
polypeptide	OTTMUSP00000024040	VEGA | MGI Sequence Detail	463	Not Applicable

Polymorphisms

• SNPs within 2kb
  306 from dbSNP Build 142

Protein
Information

• UniProt
  4 Sequences
• Protein Ontology
  PR:000011097 NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial
• EC
  1.6.5.3, 1.6.99.3
• InterPro Domains
  IPR001135 NADH-quinone oxidoreductase, subunit D
  IPR014029 NADH:ubiquinone oxidoreductase, 49kDa subunit, conserved site
  IPR022885 NAD(P)H-quinone oxidoreductase subunit D/H
  IPR029014 NiFe hydrogenase-like

Molecular
Reagents

• All nucleic 317

  cDNA 314

  Primer pair 3

  
  

  Microarray probesets 3

Other
Accession IDs

MGI:2138402

References

• Summaries
  All 34

  Developmental Gene Expression 4

  Gene Ontology 6

  Phenotypes 6
• Earliest
  J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
• Latest
  J:172354 Wirtz S, et al., Region-Specific Expression of Mitochondrial Complex I Genes during Murine Brain Development. PLoS One. 2011;6(4):e18897