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    Timm8a2 translocase of inner mitochondrial membrane 8A2 [ Mus musculus (house mouse) ]

    Gene ID: 223262, updated on 12-Mar-2024

    Summary

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    Official Symbol
    Timm8a2provided by MGI
    Official Full Name
    translocase of inner mitochondrial membrane 8A2provided by MGI
    Primary source
    MGI:MGI:3615492
    See related
    Ensembl:ENSMUSG00000071229 AllianceGenome:MGI:3615492
    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
    Summary
    Predicted to enable identical protein binding activity. Predicted to act upstream of or within protein transport. Located in mitochondrion. Human ortholog(s) of this gene implicated in deafness-dystonia-optic neuronopathy syndrome and dystonia. Orthologous to human TIMM8A (translocase of inner mitochondrial membrane 8A). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Biased expression in testis adult (RPKM 2.0) and thymus adult (RPKM 0.1) See more
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    Genomic context

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    Location:
    14 E5; 14 65.86 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 14 NC_000080.7 (122265089..122275834)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 14 NC_000080.6 (122027677..122038422)

    Chromosome 14 - NC_000080.7Genomic Context describing neighboring genes Neighboring gene ubiquitin associated domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E7358 Neighboring gene STARR-positive B cell enhancer mm9_chr14:122327665-122327966 Neighboring gene STARR-positive B cell enhancer ABC_E8579 Neighboring gene predicted gene, 46485 Neighboring gene G protein-coupled receptor 18 Neighboring gene STARR-positive B cell enhancer mm9_chr14:122337770-122338071 Neighboring gene STARR-positive B cell enhancer mm9_chr14:122364300-122364601 Neighboring gene G protein-coupled receptor 183 Neighboring gene predicted gene, 52103 Neighboring gene STARR-positive B cell enhancer ABC_E8580 Neighboring gene STARR-positive B cell enhancer ABC_E4126 Neighboring gene STARR-positive B cell enhancer ABC_E4127 Neighboring gene STARR-positive B cell enhancer ABC_E8581 Neighboring gene STARR-positive B cell enhancer ABC_E5466 Neighboring gene RIKEN cDNA A330035P11 gene Neighboring gene STARR-positive B cell enhancer ABC_E5467 Neighboring gene transmembrane 9 superfamily member 2 Neighboring gene heterogeneous nuclear ribonucleoprotein A3 pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. A mitochondrial protein compendium elucidates complex I disease biology. Pagliarini DJ, et al. Cell, 2008 Jul 11. PMID 18614015, Free PMC Article
    2. A high-resolution anatomical atlas of the transcriptome in the mouse embryo. Diez-Roux G, et al. PLoS Biol, 2011 Jan 18. PMID 21267068, Free PMC Article
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 

    General gene information

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    Homology

    Clone Names

    • MGC117751

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within protein transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrial inner membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in mitochondrion HDA PubMed 

    General protein information

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    Preferred Names
    putative mitochondrial import inner membrane translocase subunit Tim8 A-B
    Names
    translocase of inner mitochondrial membrane 8 homolog a2

    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_001037744.1 → NP_001032833.1  putative mitochondrial import inner membrane translocase subunit Tim8 A-B

      See identical proteins and their annotated locations for NP_001032833.1

      Status: PROVISIONAL

      Source sequence(s)
      BC099499
      Consensus CDS
      CCDS37020.1
      UniProtKB/Swiss-Prot
      Q4FZG7
      Related
      ENSMUSP00000047497.7, ENSMUST00000045976.7
      Conserved Domains (1) summary
      pfam02953
      Location:21 → 83
      zf-Tim10_DDP; Tim10/DDP family zinc finger

    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_000080.7 Reference GRCm39 C57BL/6J

      Range
      122265089..122275834
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006518919.4 → XP_006518982.1  putative mitochondrial import inner membrane translocase subunit Tim8 A-B isoform X1

      See identical proteins and their annotated locations for XP_006518982.1

      UniProtKB/Swiss-Prot
      Q4FZG7
      Conserved Domains (1) summary
      pfam02953
      Location:21 → 83
      zf-Tim10_DDP; Tim10/DDP family zinc finger
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4FZG7.1 GenPept UniProtKB/Swiss-Prot:Q4FZG7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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