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Afg3l2 Gene Detail
Summary
  • Symbol
    Afg3l2
  • Name
    AFG3-like AAA ATPase 2
  • Synonyms
    2310036I02Rik, Emv66, par
  • Feature Type
    protein coding gene
  • IDs
    MGI:1916847
    NCBI Gene: 69597
  • Gene Overview
    MyGene.info: AFG3L2
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr18:67404760-67449136 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 18, 39.96 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    655 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1916847
protein coding gene Chr18:67404760-67449166 (-)
129S1/SvImJ MGP_129S1SvImJ_G0024524
protein coding gene Chr18:67692413-67740496 (-)
A/J MGP_AJ_G0024491
protein coding gene Chr18:64735889-64781895 (-)
AKR/J MGP_AKRJ_G0024461
protein coding gene Chr18:66636156-66682937 (-)
BALB/cJ MGP_BALBcJ_G0024490
protein coding gene Chr18:64903308-64949195 (-)
C3H/HeJ MGP_C3HHeJ_G0024258
protein coding gene Chr18:66789651-66835922 (-)
C57BL/6NJ MGP_C57BL6NJ_G0024937
protein coding gene Chr18:69481291-69526468 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0022368
protein coding gene Chr18:64110218-64154070 (-)
CAST/EiJ MGP_CASTEiJ_G0023731
protein coding gene Chr18:66789245-66833930 (-)
CBA/J MGP_CBAJ_G0024228
protein coding gene Chr18:71880890-71927016 (-)
DBA/2J MGP_DBA2J_G0024358
protein coding gene Chr18:64387814-64433630 (-)
FVB/NJ MGP_FVBNJ_G0024324
protein coding gene Chr18:63762351-63807035 (-)
LP/J MGP_LPJ_G0024442
protein coding gene Chr18:67558512-67603838 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0024353
protein coding gene Chr18:73152382-73201148 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0024984
protein coding gene Chr18:66805183-66849502 (-)
PWK/PhJ MGP_PWKPhJ_G0023474
protein coding gene Chr18:64666604-64712586 (-)
SPRET/EiJ MGP_SPRETEiJ_G0023280
protein coding gene Chr18:66967336-67016828 (-)
WSB/EiJ MGP_WSBEiJ_G0023795
protein coding gene Chr18:66708597-66758496 (-)



Homology
more
  • Human Ortholog
    AFG3L2, AFG3 like matrix AAA peptidase subunit 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    AFG3L2, AFG3 like matrix AAA peptidase subunit 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    SCA28, SPAX5
  • Links
    NCBI Gene ID: 10939
    neXtProt AC: NX_Q9Y4W6
    UniProt: Q9Y4W6

  • Chr Location
    18p11.21; chr18:12328944-12377309 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 4947
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: AFG3L2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Afg3l2 mouse models; 2 with human AFG3L2 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
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
    57 phenotypes from 3 alleles in 6 genetic backgrounds
    22 phenotypes from multigenic genotypes
    5 images
    16 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 mutations in this gene usually die before weaning. Mice develop progressive paralysis as a result of abnormalities in the axons innervating muscle endplates. Mice homozygous for a conditional allele activated in Purkinje cells exhibit abnormal gait and Purkinje cell degeneration.
Gene Ontology
(GO)
Classifications
less
  • 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 population 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
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 69597 NCBI Gene Model | MGI Sequence Detail 44377 C57BL/6J ±  kb
    transcript NM_027130 RefSeq | MGI Sequence Detail 3142 C57BL/6  
    polypeptide Q8JZQ2 UniProt | EBI | MGI Sequence Detail 802 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 90
      cDNA 89
      Primer pair 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-13136, MGI:1891224, MGI:2147361, MGI:97480
    References
    more
    • Summaries
      All 53
      Developmental Gene Expression 2
      Diseases 1
      Gene Ontology 11
      Phenotypes 16
    • Earliest
      J:106411 Blondet B, et al., Nerve and muscle development in paralyse mutant mice. Dev Biol. 1989 Mar;132(1):153-66
    • Latest
      J:237410 Wang S, et al., The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying. PLoS Genet. 2016 Dec;12(12):e1006463

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory