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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
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:108189123-108295189 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 59.63 cM, cytoband D2.1
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    3493 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 Chr13:108139249-108295189 (-)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    NDUFAF2, NADH:ubiquinone oxidoreductase complex assembly factor 2
  • Synonyms
    B17.2L, MC1DN10, mimitin, MMTN, NDUFA12L
  • Links
    NCBI Gene ID: 91942
    neXtProt AC: NX_Q8N183
    UniProt: Q8N183

  • Chr Location
    5q12.1; chr5:60945177-61154531 (+)  GRCh38
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
    10 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 knock-out allele exhibit impaired complex I mitochondrial activity.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
    9
  • GO References
    7
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    708
  • Tissues
    1
  • cDNA Data
    20
  • Literature Summary
    1
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 75597 NCBI Gene Model | MGI Sequence Detail 106067 C57BL/6J ±  kb
transcript NM_001360140 RefSeq | MGI Sequence Detail 744 C57BL/6  
polypeptide Q59J78 UniProt | EBI | MGI Sequence Detail 168 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000011082 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
    (term hierarchy)
  • PDB
    8CA5
  • InterPro Domains
    IPR052618 Complex I NDUFA12 subunit
    IPR007763 NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
  • GlyGen
    Q59J78 1 site, 1 O-linked glycan (1 site)
Molecular
Reagents
less
  • All nucleic 21
    cDNA 20
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2145529
References
more
  • Summaries
    All 42
    Developmental Gene Expression 1
    Gene Ontology 7
    Phenotypes 10
  • 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:329220 Chen Y, et al., Hnrnpk maintains chondrocytes survival and function during growth plate development via regulating Hif1alpha-glycolysis axis. Cell Death Dis. 2022 Sep 20;13(9):803
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory