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 mitochondrial protein processing; mitochondrion organization; and protein-containing complex assembly. Predicted to localize to 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
High Throughput Expression: GEO (1) , Expression Atlas (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)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    Browsers: NCBI
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM afg3l2 No data available
    MARKER RELATIONSHIPS
    afg3l2 Contained in: [BAC] CH211-12E1 (1)
    afg3l2 Encodes: [cDNA] MGC:172331 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001111197 (1) 3482 nt
    Genomic GenBank:BX000484 (1) 158932 nt
    Select Tool
    Polypeptide UniProtKB:A9JRG9 (1) 800 aa
    Sequence Information (all 9)
    ORTHOLOGY for afg3l2 ( Chr: 2 )
    CITATIONS (23)