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Ndufs4 Gene Detail
Summary
  • Symbol
    Ndufs4
  • Name
    NADH:ubiquinone oxidoreductase core subunit S4
  • Synonyms
    6720411N02Rik, C1-18k
  • Feature Type
    protein coding gene
  • IDs
    MGI:1343135
    NCBI Gene: 17993
  • Gene Overview
    MyGene.info: NDUFS4
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr13:114287795-114388094 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      100300 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 64.12 cM, cytoband D2.2
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    NDUFS4, NADH:ubiquinone oxidoreductase subunit S4
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NDUFS4, NADH:ubiquinone oxidoreductase subunit S4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AQDQ, CI-18, CI-18 kDa, CI-AQDQ
  • Links
    NCBI Gene ID: 4724
    neXtProt AC: NX_O43181
    UniProt: O43181

  • Chr Location
    5q11.2; chr5:53560610-53683341 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    2 with Ndufs4 mouse models; 2 with human NDUFS4 associations

Human Disease Mouse Models
      
IDs
View 3 models
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    91 phenotypes from 4 alleles in 10 genetic backgrounds
    4 phenotypes from multigenic genotypes
    2 images
    38 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit growth retardation, lethargy, loss of motor skills, blindness and decreased mitochondrial CI complex activity beginning at 5 weeks of age followed by death at week 7.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17993 NCBI Gene Model | MGI Sequence Detail 100300 C57BL/6J ±  kb
    transcript NM_010887 RefSeq | MGI Sequence Detail 1534 C57BL/6  
    polypeptide Q9CXZ1 UniProt | EBI | MGI Sequence Detail 175 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      888 from dbSNP Build 142
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • InterPro Domains
      IPR038532 NADH dehydrogenase ubiquinone Fe-S protein 4-like superfamily
      IPR006885 NADH dehydrogenase ubiquinone Fe-S protein 4, mitochondrial
    Molecular
    Reagents
    less
    • All nucleic 12
      cDNA 11
      Primer pair 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1924978
    References
    more
    • Summaries
      All 72
      Developmental Gene Expression 3
      Diseases 3
      Gene Ontology 9
      Phenotypes 38
    • Earliest
      J:54917 Murdock DG, et al., Up-regulation of nuclear and mitochondrial genes in the skeletal muscle of mice lacking the heart/muscle isoform of the adenine nucleotide translocator. J Biol Chem. 1999 May 14;274(20):14429-33
    • Latest
      J:260020 Choi WS, et al., Conditional deletion of Ndufs4 in dopaminergic neurons promotes Parkinson's disease-like non-motor symptoms without loss of dopamine neurons. Sci Rep. 2017 Mar 22;7:44989

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    06/12/2018
    MGI 6.12
    The Jackson Laboratory