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Ndufaf2 Gene Detail
Summary
  • Symbol
    Ndufaf2
  • Name
    NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2
  • Synonyms
    1810058I14Rik, mimitin, Ndufa12l
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922847
    NCBI Gene: 75597
Location & Maps
more
  • Sequence Map
    Chr13:108052590-108158625 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      106036 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 59.63 cM, cytoband D2.1
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    NDUFAF2, NADH:ubiquinone oxidoreductase complex assembly factor 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NDUFAF2, NADH:ubiquinone oxidoreductase complex assembly factor 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    B17.2L, mimitin, MMTN, NDUFA12L
  • Links
    NCBI Gene ID: 91942
    neXtProt AC: NX_Q8N183

  • Chr Location
    5q12.1; chr5:60945129-61153037 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human NDUFAF2 associations

Human Disease Mouse Models
       Leigh Syndrome; LS   OMIM: 256000
Mitochondrial Complex I Deficiency   OMIM: 252010
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    2 phenotypes from 2 alleles in 2 genetic backgrounds
    9 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.
  • All Mutations and Alleles
    29
  • Gene trapped
    25
  • Targeted
    4
Mice homozygous for a knock-out allele exhibit impaired complex I mitochondrial activity.
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
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000068184 Ensembl Gene Model | MGI Sequence Detail 106036 C57BL/6J ±  kb
transcript ENSMUST00000163558 Ensembl | MGI Sequence Detail 679 Not Applicable  
polypeptide ENSMUSP00000130532 Ensembl | MGI Sequence Detail 168 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    816 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • Protein Ontology
    PR:000011082 mimitin, mitochondrial
  • InterPro Domains
    IPR007763 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
Molecular
Reagents
less
  • All nucleic 19
    cDNA 19

    Microarray probesets 3
Other
Accession IDs
less
MGI:2145529
References
more
  • Summaries
    All 35
    Gene Ontology 4
    Phenotypes 9
  • Earliest
    J:1921 Timsit SG, et al., DM-20 mRNA is expressed during the embryonic development of the nervous system of the mouse. J Neurochem. 1992 Mar;58(3):1172-5
  • Latest
    J:201547 Schlehe JS, et al., The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress. Neurobiol Dis. 2013 Oct;58:57-67

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
08/17/2016
MGI 6.05
The Jackson Laboratory