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mt-Nd6 Gene Detail
Summary
  • Symbol
    mt-Nd6
  • Name
    mitochondrially encoded NADH dehydrogenase 6
  • Synonyms
    ENSMUSG00000064368, URF6
  • Feature Type
    protein coding gene
  • IDs
    MGI:102495
    NCBI Gene: 17722
  • Gene Overview
    MyGene.info: ND6
Location & Maps
more
  • Genetic Map
    Chromosome MT, Syntenic
Homology
more
  • Human Ortholog
    ND6, NADH dehydrogenase, subunit 6 (complex I)
  • Vertebrate Orthologs
    6
  • Human Ortholog
    ND6, NADH dehydrogenase, subunit 6 (complex I)
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MTND6
  • Links
    NCBI Gene ID: 4541
    neXtProt AC: NX_P03923

  • Chr Location
    MT

Human Diseases
more
  • Diseases
    1 with mt-Nd6 mouse models; 2 with human ND6 associations

Human Disease Mouse Models
       Leber Optic Atrophy   OMIM: 535000 View 1 model
       Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes; MELAS   OMIM: 540000
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    16 phenotypes from 3 alleles in 3 genetic backgrounds
    2 phenotypes from multigenic genotypes
    5 images
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    5
  • Chemically and radiation induced
    1
  • Spontaneous
    4
  • Genomic Mutations
    1 involving mt-Nd6
Mice homoplastic for mitochondria containing a point mutation allele exhibit decreased mitochondrial oxidation and elevated lactate serum levels. Mice with mitochondria containing an insertion exhibit decreased mitochondrial oxidation.
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
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
Sequences &
Gene Models
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  • All Sequences
  • RefSeq
  • UniProt
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000064368 Ensembl Gene Model | MGI Sequence Detail 519 C57BL/6J ±  kb
transcript ENSMUST00000082419 Ensembl | MGI Sequence Detail 519 Not Applicable  
polypeptide ENSMUSP00000081002 Ensembl | MGI Sequence Detail 172 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    19 from dbSNP Build 142
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000010694 NADH-ubiquinone oxidoreductase chain 6
  • EC
  • InterPro Domains
    IPR010934 NADH dehydrogenase subunit 5, C-terminal
    IPR001750 NADH:quinone oxidoreductase/Mrp antiporter, membrane subunit
    IPR001457 NADH:ubiquinone/plastoquinone oxidoreductase, chain 6
Molecular
Reagents
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  • All nucleic 75
    cDNA 22
    Primer pair 1
    Other 52

    Microarray probesets 1
Other
Accession IDs
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MGD-MRK-19332, MGI:2140439, MGI:2140440, MGI:2140446, MGI:2140451, MGI:2140454, MGI:2140456, MGI:2140458, MGI:2153793, MGI:3809053
References
more
  • Summaries
    All 34
    Developmental Gene Expression 3
    Diseases 1
    Gene Ontology 4
    Phenotypes 17
  • Earliest
    J:22484 Bibb MJ, et al., Sequence and gene organization of mouse mitochondrial DNA. Cell. 1981 Oct;26(2 Pt 2):167-80
  • Latest
    J:192260 Lin CS, et al., Mouse mtDNA mutant model of Leber hereditary optic neuropathy. Proc Natl Acad Sci U S A. 2012 Dec 4;109(49):20065-70

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory