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ZIRC
ZFIN ID: ZDB-GENE-070912-46
Gene Name: AFG3-like AAA ATPase 2
Gene Symbol: afg3l2    Nomenclature History

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Previous Name: si:ch211-12e1.4 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 2 Mapping Details/Browsers
Description: Predicted to have ATP binding activity; metalloendopeptidase activity; and zinc ion binding activity. Predicted to be involved in cristae formation; mitochondrial fusion; and mitochondrial protein processing. Predicted to localize to the mitochondrial inner membrane. Human ortholog(s) of this gene implicated in spastic ataxia; spastic ataxia 5; and spinocerebellar ataxia type 28. Orthologous to human AFG3L2 (AFG3 like matrix AAA peptidase subunit 2).
Genome Resources: Alliance (1), Gene:569168 (1), Ensembl(GRCz11):ENSDARG00000062272 (2)
GENE EXPRESSION
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa1333 Point Mutation Unknown Splice Site ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa6834 Point Mutation Unknown Premature Stop ENU
    sa14600 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa19731 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH afg3l2 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    spastic ataxia 5 Alliance Spastic ataxia 5, autosomal recessive 614487
    spinocerebellar ataxia type 28 Alliance Spinocerebellar ataxia 28 610246
    DISEASE ASSOCIATED WITH afg3l2 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process proteolysis (more)
    Cellular Component integral component of membrane (more)
    Molecular Function ATP binding (more)
    GO Terms (all 11)
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA afg3l2-001 (1) 3532
    Browsers: NCBI
    INTERACTIONS AND PATHWAYS
    ANTIBODIESNo data available
    PLASMIDSNo data available
    CONSTRUCTS WITH SEQUENCES FROM afg3l2No data available
    MARKER RELATIONSHIPS
    afg3l2Contained in: [BAC] CH211-12E1 (1) (order this)
    afg3l2Encodes: [cDNA] MGC:172331 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001111197 (1) 3482bp
    Genomic GenBank:BX000484 (1) 158932bp
    Select Tool
    Polypeptide UniProtKB:A9JRG9 (1) 800aa
    Sequence Clusters UniGene:82691 (1)
    Sequence Information (all 10)
    ORTHOLOGY for afg3l2 (Chr: 2)
    CITATIONS (22)