About   Help   FAQ
Afg3l2
Gene Detail
 Symbol
Name
ID
Afg3l2
AFG3-like AAA ATPase 2
MGI:1916847
Synonyms 2310036I02Rik, Emv66, par
Feature Type protein coding gene
Genetic Map
Chromosome 18
39.96 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr18:67404764-67449136 bp, - strand
From NCBI annotation of GRCm38

  44373 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:4947  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Afg3l2

Human
homologs
Human Homolog AFG3L2, AFG3-like AAA ATPase 2
NCBI Gene ID 10939
neXtProt AC  NX_Q9Y4W6
Human Synonyms  SCA28, SPAX5
Human Chr (Location)  18p11; chr18:12328944-12377276 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human AFG3L2
Alleles
and
phenotypes
All alleles(9) : Gene trapped(4) Spontaneous(1) Targeted(3)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Phenotype Images(5)
Gene Ontology
(GO)
classifications
All GO classifications: (33 annotations)
Process axonogenesis, cristae formation, ...
Component integral component of membrane, membrane, ...
Function ATP binding, hydrolase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (22)    Tissues (22)    Images (3)
Theiler Stages: 21, 28
Assay TypeResults
RNA in situ 20
RT-PCR 2
cDNA source data(88)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(89) cDNA(88) Primer pair(1)
Microarray probesets(4)
Other database
links
Ensembl Gene ModelENSMUSG00000024527 (Evidence)
Entrez Gene69597 (Evidence)
UniGene426052
DFCITC1574228, TC1632358, TC1701662
DoTSDT.101352596, DT.101401271, DT.101737208, DT.486171
NIA Mouse Gene IndexU038519
EC3.4.24.-
Consensus CDS ProjectCCDS37847.1
International Mouse Knockout Project StatusAfg3l2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 69597 NCBI Gene Model | MGI Sequence Detail 44373 C57BL/6J ±  kb
transcript NM_027130 RefSeq | MGI Sequence Detail 3086 C57BL/6 
polypeptide Q8JZQ2 UniProt | EBI | MGI Sequence Detail 802 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(2) UniProt(5)
Polymorphisms SNPs within 2kb(671 from dbSNP Build 137)    SNPs within 2kb including multiple locations(673)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR003960 ATPase, AAA-type, conserved site
InterPro IPR003959 ATPase, AAA-type, core
InterPro IPR005936 Peptidase, FtsH
InterPro IPR000642 Peptidase M41
InterPro IPR011546 Peptidase M41, FtsH extracellular
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000003807 AFG3-like protein 2
Graphical View of Protein Domain Structure
References (Earliest) J:13950 Duchen LW, et al., A new mutant, paralyse. Mouse News Lett. 1983;69:34
(Latest) J:193564 Almajan ER, et al., AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival. J Clin Invest. 2012 Nov 1;122(11):4048-58
All references(47)
Other
accession IDs
MGD-MRK-13136, MGI:1891224, MGI:2147361, MGI:97480

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
07/15/2014
MGI 5.18
The Jackson Laboratory