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    Tor2a torsin family 2, member A [ Mus musculus (house mouse) ]

    Gene ID: 30933, updated on 23-Jun-2021

    Summary

    Official Symbol
    Tor2aprovided by MGI
    Official Full Name
    torsin family 2, member Aprovided by MGI
    Primary source
    MGI:MGI:1353596
    See related
    Ensembl:ENSMUSG00000009563
    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
    Prosalusin
    Expression
    Ubiquitous expression in duodenum adult (RPKM 42.1), thymus adult (RPKM 40.6) and 28 other tissues See more
    Orthologs
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    Try the new Transcript table

    Genomic context

    See Tor2a in Genome Data Viewer
    Location:
    2; 2 B
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    109 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (32647246..32652262)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (32757234..32762250)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 2 NC_000068.6 (32612791..32617764)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 33457 Neighboring gene RIKEN cDNA 6330409D20 gene Neighboring gene SH2 domain containing 3C Neighboring gene tetratricopeptide repeat domain 16 Neighboring gene cilia and flagella associated protein 157 Neighboring gene peptidyl-tRNA hydrolase 1 homolog Neighboring gene syntaxin binding protein 1 Neighboring gene predicted gene, 24165

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    enables nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in chaperone cofactor-dependent protein refolding IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in endoplasmic reticulum lumen IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in endoplasmic reticulum lumen IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum lumen ISO
    Inferred from Sequence Orthology
    more info
    PubMed 
    is_active_in nuclear envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001369222.1NP_001356151.1  torsin-2A isoform 2 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (2).
      Source sequence(s)
      AL772271
      Related
      ENSMUSP00000135278.2, ENSMUST00000140999.2
      Conserved Domains (2) summary
      pfam06309
      Location:35161
      Torsin
      COG0542
      Location:155294
      ClpA; ATP-dependent Clp protease ATP-binding subunit ClpA [Posttranslational modification, protein turnover, chaperones]
    2. NM_001369223.1NP_001356152.1  torsin-2A isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL772271
      Conserved Domains (2) summary
      pfam06309
      Location:35159
      Torsin
      COG0542
      Location:52292
      ClpA; ATP-dependent Clp protease ATP-binding subunit ClpA [Posttranslational modification, protein turnover, chaperones]
    3. NM_001369224.1NP_001356153.1  torsin-2A isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL772271
      Conserved Domains (1) summary
      pfam06309
      Location:35160
      Torsin
    4. NM_001369225.1NP_001356154.1  torsin-2A isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AL772271
      Conserved Domains (1) summary
      pfam06309
      Location:35160
      Torsin
    5. NM_152800.3NP_690013.1  torsin-2A isoform 1 precursor

      See identical proteins and their annotated locations for NP_690013.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) uses an alternate in-frame splice site in the 5' coding region compared to variant 3. It encodes isoform 1 which has a shorter N-terminus compared to isoform 2.
      Source sequence(s)
      AK162719, BY052117, BY579003
      Consensus CDS
      CCDS15929.1
      UniProtKB/Swiss-Prot
      Q8R1J9
      Related
      ENSMUSP00000009707.8, ENSMUST00000009707.14
      Conserved Domains (1) summary
      pfam06309
      Location:35160
      Torsin; Torsin

    RNA

    1. NR_045485.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) has an alternate splice site, which results in frameshift and early translation termination, compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate.
      Source sequence(s)
      AK162719, BY052117, BY579003, CK031473
      Related
      ENSMUST00000175763.8

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      32647246..32652262
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036162286.1XP_036018179.1  torsin-2A isoform X1

      Conserved Domains (1) summary
      COG0542
      Location:25131
      ClpA; ATP-dependent Clp protease ATP-binding subunit ClpA [Posttranslational modification, protein turnover, chaperones]
    2. XM_030251737.1XP_030107597.1  torsin-2A isoform X1

      Related
      ENSMUST00000149720.3
      Conserved Domains (1) summary
      COG0542
      Location:25131
      ClpA; ATP-dependent Clp protease ATP-binding subunit ClpA [Posttranslational modification, protein turnover, chaperones]
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