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    Opa3 optic atrophy 3 [ Mus musculus (house mouse) ]

    Gene ID: 403187, updated on 9-Dec-2024

    Summary

    Official Symbol
    Opa3provided by MGI
    Official Full Name
    optic atrophy 3provided by MGI
    Primary source
    MGI:MGI:2686271
    See related
    Ensembl:ENSMUSG00000052214 AllianceGenome:MGI:2686271
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Gm472; Gm1425; D630048P19Rik
    Summary
    Acts upstream of or within several processes, including bone development; fat cell differentiation; and neuromuscular process. Located in mitochondrion. Is expressed in several structures, including eye; jaw; musculoskeletal system; optic nerve; and salivary gland. Used to study 3-methylglutaconic aciduria type 3. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria type 3 and optic atrophy 3. Orthologous to human OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in heart adult (RPKM 34.9), colon adult (RPKM 27.6) and 28 other tissues See more
    Orthologs
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    Genomic context

    See Opa3 in Genome Data Viewer
    Location:
    7 A3; 7 9.48 cM
    Exon count:
    2
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (18962314..18980742)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (19228389..19246817)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene echinoderm microtubule associated protein like 2 Neighboring gene microRNA 330 Neighboring gene VISTA enhancer mm1753 Neighboring gene G protein-coupled receptor 4 Neighboring gene STARR-positive B cell enhancer ABC_E3702 Neighboring gene predicted gene, 25134 Neighboring gene predicted gene, 38499 Neighboring gene vasodilator-stimulated phosphoprotein

    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

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Component Evidence Code Pubs
    located_in mitochondrion PubMed 
    is_active_in mitochondrion  
    located_in mitochondrion PubMed 
    located_in mitochondrion  

    General protein information

    Preferred Names
    optic atrophy 3 protein homolog

    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_207525.3NP_997408.2  optic atrophy 3 protein homolog

      See identical proteins and their annotated locations for NP_997408.2

      Status: PROVISIONAL

      Source sequence(s)
      AK164755
      Consensus CDS
      CCDS20894.1
      UniProtKB/Swiss-Prot
      Q505D7, Q8C6Z9
      Related
      ENSMUSP00000069965.9, ENSMUST00000063976.9
      Conserved Domains (1) summary
      pfam07047
      Location:6128
      OPA3; Optic atrophy 3 protein (OPA3)

    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_000073.7 Reference GRCm39 C57BL/6J

      Range
      18962314..18980742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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