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    Afg3l2 AFG3-like AAA ATPase 2 [ Mus musculus (house mouse) ]

    Gene ID: 69597, updated on 4-Jan-2025

    Summary

    Official Symbol
    Afg3l2provided by MGI
    Official Full Name
    AFG3-like AAA ATPase 2provided by MGI
    Primary source
    MGI:MGI:1916847
    See related
    Ensembl:ENSMUSG00000024527 AllianceGenome:MGI:1916847
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    par; Emv66; 2310036I02Rik
    Summary
    Enables metallopeptidase activity. Involved in protein autoprocessing and regulation of calcium import into the mitochondrion. Acts upstream of or within several processes, including mitochondrion organization; nervous system development; and righting reflex. Located in mitochondrial inner membrane. Part of m-AAA complex. Is expressed in central nervous system and sensory organ. Used to study spinocerebellar ataxia type 28. Human ortholog(s) of this gene implicated in optic atrophy 12; spastic ataxia; spastic ataxia 5; and spinocerebellar ataxia type 28. Orthologous to human AFG3L2 (AFG3 like matrix AAA peptidase subunit 2). [provided by Alliance of Genome Resources, Jan 2025]
    Expression
    Ubiquitous expression in colon adult (RPKM 22.4), adrenal adult (RPKM 20.7) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Afg3l2 in Genome Data Viewer
    Location:
    18 E1; 18 39.96 cM
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 18 NC_000084.7 (67537830..67582277, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 18 NC_000084.6 (67404764..67449192, complement)

    Chromosome 18 - NC_000084.7Genomic Context describing neighboring genes Neighboring gene RIKEN cDNA B430212C06 gene Neighboring gene cell death-inducing DNA fragmentation factor, alpha subunit-like effector A Neighboring gene tubulin, beta 6 class V Neighboring gene STARR-positive B cell enhancer ABC_E3234 Neighboring gene PRELI domain containing 3A Neighboring gene spire type actin nucleation factor 1 Neighboring gene STARR-seq mESC enhancer starr_44904 Neighboring gene STARR-seq mESC enhancer starr_44905 Neighboring gene STARR-seq mESC enhancer starr_44907 Neighboring gene predicted gene, 17669

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    BioGRID CRISPR Screen Phenotypes (9 hits/79 screens)

    Associated conditions

    Description Tests
    paralyse
    GeneReviews: Not available

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (1) 
    • Not Applicable (1)  1 citation
    • Spontaneous (1) 
    • Targeted (2)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding  
    enables ATP hydrolysis activity  
    enables ATP hydrolysis activity  
    enables ATP-dependent H2AZ histone chaperone activity  
    enables ATP-dependent H3-H4 histone complex chaperone activity  
    enables ATP-dependent peptidase activity  
    enables DNA clamp loader activity  
    enables chromatin extrusion motor activity  
    enables cohesin loader activity  
    enables membrane protein dislocase activity  
    enables metalloendopeptidase activity  
    enables metalloendopeptidase activity  
    enables metalloendopeptidase activity  
    enables metallopeptidase activity PubMed 
    enables metallopeptidase activity  
    enables protein binding PubMed 
    enables zinc ion binding  
    Items 1 - 25 of 36
    Process Evidence Code Pubs
    acts_upstream_of_or_within axonogenesis PubMed 
    involved_in axonogenesis  
    involved_in axonogenesis  
    involved_in calcium import into the mitochondrion  
    involved_in calcium import into the mitochondrion  
    involved_in cellular response to glutathione  
    involved_in cellular response to glutathione  
    involved_in chromatin looping  
    involved_in chromatin remodeling  
    acts_upstream_of_or_within cristae formation PubMed 
    involved_in membrane protein proteolysis  
    involved_in membrane protein proteolysis  
    involved_in mitochondrial calcium ion homeostasis  
    involved_in mitochondrial calcium ion homeostasis  
    acts_upstream_of_or_within mitochondrial fusion PubMed 
    involved_in mitochondrial protein processing  
    acts_upstream_of_or_within mitochondrial protein processing PubMed 
    acts_upstream_of_or_within mitochondrial protein processing PubMed 
    involved_in mitochondrial protein quality control  
    involved_in mitochondrial protein quality control  
    acts_upstream_of_or_within mitochondrion organization PubMed 
    acts_upstream_of_or_within muscle cell development PubMed 
    acts_upstream_of_or_within myelination PubMed 
    acts_upstream_of_or_within nerve development PubMed 
    acts_upstream_of_or_within neuromuscular junction development PubMed 
    involved_in protein autoprocessing PubMed 
    involved_in protein catabolic process  
    involved_in protein catabolic process  
    involved_in protein maturation PubMed 
    involved_in protein maturation  
    involved_in protein processing PubMed 
    involved_in proteolysis  
    involved_in regulation of calcium import into the mitochondrion PubMed 
    involved_in regulation of calcium import into the mitochondrion  
    acts_upstream_of_or_within regulation of multicellular organism growth PubMed 
    acts_upstream_of_or_within righting reflex PubMed 
    Items 1 - 25 of 36
    Component Evidence Code Pubs
    part_of m-AAA complex  
    part_of m-AAA complex PubMed 
    part_of m-AAA complex  
    located_in mitochondrial inner membrane PubMed 
    located_in mitochondrial inner membrane PubMed 
    located_in mitochondrion PubMed 
    located_in mitochondrion  

    General protein information

    Preferred Names
    mitochondrial inner membrane m-AAA protease component AFG3L2; AFG3-like protein 2
    Names
    AFG3 (ATPase family gene 3)-like 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_027130.2NP_081406.1  mitochondrial inner membrane m-AAA protease component AFG3L2

      See identical proteins and their annotated locations for NP_081406.1

      Status: VALIDATED

      Source sequence(s)
      AK168668, BC043056
      Consensus CDS
      CCDS37847.1
      UniProtKB/Swiss-Prot
      Q8JZQ2
      UniProtKB/TrEMBL
      Q3U7C0
      Related
      ENSMUSP00000025408.9, ENSMUST00000025408.10
      Conserved Domains (4) summary
      TIGR01241
      Location:252745
      FtsH_fam; ATP-dependent metalloprotease FtsH
      pfam00004
      Location:344475
      AAA; ATPase family associated with various cellular activities (AAA)
      pfam01434
      Location:561743
      Peptidase_M41; Peptidase family M41
      pfam06480
      Location:145241
      FtsH_ext; FtsH Extracellular

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000084.7 Reference GRCm39 C57BL/6J

      Range
      67537830..67582277 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036161273.1XP_036017166.1  AFG3-like protein 2 isoform X2

      Conserved Domains (1) summary
      TIGR01241
      Location:4497
      FtsH_fam; ATP-dependent metalloprotease FtsH
    2. XM_011246998.3XP_011245300.1  AFG3-like protein 2 isoform X1

      UniProtKB/TrEMBL
      Q3U7C0
      Conserved Domains (2) summary
      TIGR01241
      Location:174667
      FtsH_fam; ATP-dependent metalloprotease FtsH
      pfam06480
      Location:67163
      FtsH_ext; FtsH Extracellular
    3. XM_036161274.1XP_036017167.1  AFG3-like protein 2 isoform X2

      Conserved Domains (1) summary
      TIGR01241
      Location:4497
      FtsH_fam; ATP-dependent metalloprotease FtsH
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