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

    Gene ID: 30933, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Tor2aprovided by MGI
    Official Full Name
    torsin family 2, member Aprovided by MGI
    Primary source
    MGI:MGI:1353596
    See related
    Ensembl:ENSMUSG00000009563 AllianceGenome:MGI:1353596
    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
    Summary
    Enables identical protein binding activity. Predicted to be involved in chaperone cofactor-dependent protein refolding. Located in endoplasmic reticulum lumen. Is expressed in several structures, including central nervous system; heart; liver; spleen; and tongue. Orthologous to human TOR2A (torsin family 2 member A). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in duodenum adult (RPKM 42.1), thymus adult (RPKM 40.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Tor2a in Genome Data Viewer
    Location:
    2 B; 2 22.09 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (32647289..32652256)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (32757234..32762250)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:32577778-32577887 Neighboring gene STARR-positive B cell enhancer ABC_E3368 Neighboring gene predicted gene, 33457 Neighboring gene RIKEN cDNA 6330409D20 gene Neighboring gene SH2 domain containing 3C Neighboring gene STARR-positive B cell enhancer ABC_E411 Neighboring gene tetratricopeptide repeat domain 16 Neighboring gene STARR-positive B cell enhancer ABC_E10097 Neighboring gene CapStarr-seq enhancer MGSCv37_chr2:32633660-32633899 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

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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. Salusin beta is a surrogate ligand of the mas-like G protein-coupled receptor MrgA1. Wang Z, et al. Eur J Pharmacol, 2006 Jun 13. PMID 16697365
    2. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. Ozelius LJ, et al. Genomics, 1999 Dec 15. PMID 10644435
    3. Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA. Jungwirth M, et al. Hum Mol Genet, 2010 Mar 1. PMID 20015956
    4. A molecular mechanism underlying the neural-specific defect in torsinA mutant mice. Kim CE, et al. Proc Natl Acad Sci U S A, 2010 May 25. PMID 20457914, Free PMC Article
    5. The splicing regulators Esrp1 and Esrp2 direct an epithelial splicing program essential for mammalian development. Bebee TW, et al. Elife, 2015 Sep 15. PMID 26371508, Free PMC Article

    See all (21) citations in PubMed

    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) 

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ATP hydrolysis activity 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 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
    is_active_in endoplasmic reticulum lumen IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  

    General protein information

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    Preferred Names
    torsin-2A

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

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (2).
      Source sequence(s)
      AL772271
      UniProtKB/TrEMBL
      H3BK73
      Related
      ENSMUSP00000135278.2, ENSMUST00000140999.2
      Conserved Domains (2) summary
      pfam06309
      Location:35 → 161
      Torsin
      COG0542
      Location:155 → 294
      ClpA; ATP-dependent Clp protease ATP-binding subunit ClpA [Posttranslational modification, protein turnover, chaperones]

    2. NM_001369223.2 → NP_001356152.1  torsin-2A isoform 3 precursor

      Status: VALIDATED

      Source sequence(s)
      AL772271
      Conserved Domains (2) summary
      pfam06309
      Location:35 → 159
      Torsin
      COG0542
      Location:52 → 292
      ClpA; ATP-dependent Clp protease ATP-binding subunit ClpA [Posttranslational modification, protein turnover, chaperones]

    3. NM_001369224.2 → NP_001356153.1  torsin-2A isoform 4 precursor

      Status: VALIDATED

      Source sequence(s)
      AL772271
      Conserved Domains (1) summary
      pfam06309
      Location:35 → 160
      Torsin

    4. NM_001369225.2 → NP_001356154.1  torsin-2A isoform 5 precursor

      Status: VALIDATED

      Source sequence(s)
      AL772271
      UniProtKB/Swiss-Prot
      P0C7W3
      Conserved Domains (1) summary
      pfam06309
      Location:35 → 160
      Torsin

    5. NM_001412527.1 → NP_001399456.1  torsin-2A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL772271

    6. NM_001412529.1 → NP_001399458.1  torsin-2A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL772271

    7. NM_001412530.1 → NP_001399459.1  torsin-2A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL772271

    8. NM_001412531.1 → NP_001399460.1  torsin-2A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL772271

    9. NM_001412532.1 → NP_001399461.1  torsin-2A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL772271
      Related
      ENSMUST00000149720.3

    10. NM_001412533.1 → NP_001399462.1  torsin-2A isoform 7 precursor

      Status: VALIDATED

      Source sequence(s)
      AL772271
      UniProtKB/TrEMBL
      H3BK73

    11. NM_001412534.1 → NP_001399463.1  torsin-2A isoform 8

      Status: VALIDATED

      Source sequence(s)
      AL772271

    12. NM_001412535.1 → NP_001399464.1  torsin-2A isoform 6

      Status: VALIDATED

      Source sequence(s)
      AL772271

    13. NM_152800.4 → NP_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)
      AL772271
      Consensus CDS
      CCDS15929.1
      UniProtKB/Swiss-Prot
      Q3TBH0, Q3TC01, Q3V4D1, Q8R1J9, Q8R5B5
      Related
      ENSMUSP00000009707.8, ENSMUST00000009707.14
      Conserved Domains (1) summary
      pfam06309
      Location:35 → 160
      Torsin; Torsin

    RNA

    1. NR_178212.1 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AL772271

    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_000068.8 Reference GRCm39 C57BL/6J

      Range
      32647289..32652256
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P0C7W3.1 GenPept UniProtKB/Swiss-Prot:P0C7W3
    Q8R1J9.1 GenPept UniProtKB/Swiss-Prot:Q8R1J9

    Gene LinkOut

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

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