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

Gene ID: 30933, updated on 27-Nov-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, Nov 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

  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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