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Ndufaf2 Gene Detail
Summary
  • Symbol
    Ndufaf2
  • Name
    NADH:ubiquinone oxidoreductase complex assembly factor 2
  • Synonyms
    1810058I14Rik, mimitin, Ndufa12l
  • Feature Type
    protein coding gene
  • IDs
    MGI:1922847
    NCBI Gene: 75597
  • Alliance
Location &
Maps
more
  • Sequence Map
    Chr13:108052589-108158655 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 13, 59.63 cM, cytoband D2.1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    816 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1922847
protein coding gene Chr13:108002715-108158655 (-)
129S1/SvImJ MGP_129S1SvImJ_G0020923
protein coding gene Chr13:110337316-110453682 (-)
A/J MGP_AJ_G0020872
protein coding gene Chr13:105997151-106106287 (-)
AKR/J MGP_AKRJ_G0020848
protein coding gene Chr13:109210536-109316708 (-)
BALB/cJ MGP_BALBcJ_G0020873
protein coding gene Chr13:106717951-106826199 (-)
C3H/HeJ MGP_C3HHeJ_G0020662
protein coding gene Chr13:108987783-109100766 (-)
C57BL/6NJ MGP_C57BL6NJ_G0021308
protein coding gene Chr13:113653430-113766278 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0018877
protein coding gene Chr13:101423995-101582300 (-)
CAST/EiJ MGP_CASTEiJ_G0020181
protein coding gene Chr13:108509909-108628534 (-)
CBA/J MGP_CBAJ_G0020624
protein coding gene Chr13:118036786-118163149 (-)
DBA/2J MGP_DBA2J_G0020747
protein coding gene Chr13:105760903-105867648 (-)
FVB/NJ MGP_FVBNJ_G0020730
protein coding gene Chr13:104410102-104516615 (-)
LP/J MGP_LPJ_G0020822
protein coding gene Chr13:110405493-110518796 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0020758
protein coding gene Chr13:118445122-118562149 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0021346
protein coding gene Chr13:108668255-108780743 (-)
PWK/PhJ MGP_PWKPhJ_G0019934
protein coding gene Chr13:104445011-104553710 (-)
SPRET/EiJ MGP_SPRETEiJ_G0019756
protein coding gene Chr13:104941322-105045899 (-)
WSB/EiJ MGP_WSBEiJ_G0020239
protein coding gene Chr13:109216160-109327284 (-)



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: HomoloGene, HGNC
  • Synonyms
    B17.2L, mimitin, MMTN, NDUFA12L
  • Links
    NCBI Gene ID: 91942
    neXtProt AC: NX_Q8N183
    UniProt: Q8N183

  • Chr Location
    5q12.1; chr5:60945129-61153037 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human NDUFAF2 associations

Human Disease Mouse Models
      
IDs
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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 75597 NCBI Gene Model | MGI Sequence Detail 106067 C57BL/6J ±  kb
transcript NM_001360140 RefSeq | MGI Sequence Detail 778 C57BL/6  
polypeptide Q59J78 UniProt | EBI | MGI Sequence Detail 168 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 20
    cDNA 20

    Microarray probesets 3
Other
Accession IDs
less
MGI:2145529
References
more
  • Summaries
    All 38
    Gene Ontology 6
    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
11/06/2018
MGI 6.13
The Jackson Laboratory