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Aliases for TOR3A Gene

Aliases for TOR3A Gene

  • Torsin Family 3 Member A 2 3 4
  • Torsin Family 3, Member A 2 3 5
  • ATP-Dependent Interferon-Responsive Protein 3 4
  • ATP-Dependant Interferon Responsive 2 3
  • ADIR 3 4
  • ATP-Dependant Interferon Response Protein 1 3
  • ADIR2 3

External Ids for TOR3A Gene

Previous HGNC Symbols for TOR3A Gene

  • ADIR

Previous GeneCards Identifiers for TOR3A Gene

  • GC00U990670
  • GC01P174479
  • GC01U900786
  • GC01P176290
  • GC01P175782
  • GC01P177317
  • GC01P150279

Summaries for TOR3A Gene

GeneCards Summary for TOR3A Gene

TOR3A (Torsin Family 3 Member A) is a Protein Coding gene. Diseases associated with TOR3A include Apperceptive Agnosia and Pervasive Developmental Disorder. GO annotations related to this gene include ATPase activity. An important paralog of this gene is TOR2A.

No data available for Entrez Gene Summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOR3A Gene

Genomics for TOR3A Gene

Regulatory Elements for TOR3A Gene

Enhancers for TOR3A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around TOR3A on UCSC Golden Path with GeneCards custom track

Promoters for TOR3A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around TOR3A on UCSC Golden Path with GeneCards custom track

Genomic Location for TOR3A Gene

179,081,377 bp from pter
179,098,023 bp from pter
16,647 bases
Plus strand

Genomic View for TOR3A Gene

Genes around TOR3A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOR3A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOR3A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOR3A Gene

Proteins for TOR3A Gene

  • Protein details for TOR3A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B4DSY0
    • B7ZB65
    • Q5M7Y7
    • Q8WVA7
    • Q8WWM2
    • Q9H495
    • Q9H6E7

    Protein attributes for TOR3A Gene

    397 amino acids
    Molecular mass:
    46199 Da
    Quaternary structure:
    • May not form homohexamers.

    Alternative splice isoforms for TOR3A Gene


neXtProt entry for TOR3A Gene

Proteomics data for TOR3A Gene at MOPED

Post-translational modifications for TOR3A Gene

Other Protein References for TOR3A Gene

No data available for DME Specific Peptides for TOR3A Gene

Domains & Families for TOR3A Gene

Gene Families for TOR3A Gene

Protein Domains for TOR3A Gene


Suggested Antigen Peptide Sequences for TOR3A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the ClpA/ClpB family. Torsin subfamily.
  • Belongs to the ClpA/ClpB family. Torsin subfamily.
genes like me logo Genes that share domains with TOR3A: view

Function for TOR3A Gene

genes like me logo Genes that share phenotypes with TOR3A: view

Animal Model Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TOR3A Gene

Localization for TOR3A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOR3A Gene

Cytoplasm. Endoplasmic reticulum lumen.

Subcellular locations from

Jensen Localization Image for TOR3A Gene COMPARTMENTS Subcellular localization image for TOR3A gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TOR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005788 endoplasmic reticulum lumen IDA 11863361
genes like me logo Genes that share ontologies with TOR3A: view

Pathways & Interactions for TOR3A Gene

SuperPathways for TOR3A Gene

No Data Available

Interacting Proteins for TOR3A Gene

Gene Ontology (GO) - Biological Process for TOR3A Gene


No data available for Pathways by source and SIGNOR curated interactions for TOR3A Gene

Drugs & Compounds for TOR3A Gene

No Compound Related Data Available

Transcripts for TOR3A Gene

Unigene Clusters for TOR3A Gene

Torsin family 3, member A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TOR3A Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b · 2c ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9
SP1: - - - - - - - -
SP2: - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - -
SP6: - - - - - - -
SP7: - -
SP8: - -
SP10: - -

Relevant External Links for TOR3A Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TOR3A Gene

mRNA expression in normal human tissues for TOR3A Gene

Protein differential expression in normal tissues from HIPED for TOR3A Gene

This gene is overexpressed in Serum (60.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for TOR3A Gene

SOURCE GeneReport for Unigene cluster for TOR3A Gene Hs.584957

mRNA Expression by UniProt/SwissProt for TOR3A Gene

Tissue specificity: Ubiquitously expressed. Highest expression in stomach, salivary glands and lymph nodes. Isoform 2 is expressed in placenta.
genes like me logo Genes that share expression patterns with TOR3A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for TOR3A Gene

Orthologs for TOR3A Gene

This gene was present in the common ancestor of animals.

Orthologs for TOR3A Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia TOR3A 35
  • 82.17 (n)
  • 76.08 (a)
TOR3A 36
  • 73 (a)
(Canis familiaris)
Mammalia TOR3A 35
  • 82.19 (n)
  • 76.99 (a)
TOR3A 36
  • 69 (a)
(Mus musculus)
Mammalia Tor3a 35
  • 78.33 (n)
  • 71.94 (a)
Tor3a 16
Tor3a 36
  • 69 (a)
(Pan troglodytes)
Mammalia TOR3A 35
  • 99.58 (n)
  • 98.99 (a)
TOR3A 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Tor3a 35
  • 76.89 (n)
  • 72 (a)
(Monodelphis domestica)
Mammalia TOR3A 36
  • 59 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 61 (a)
-- 36
  • 58 (a)
(Gallus gallus)
Aves TOR3A 35
  • 67.73 (n)
  • 59.73 (a)
TOR3A 36
  • 54 (a)
(Anolis carolinensis)
Reptilia TOR3A 36
  • 55 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tor3a 35
  • 54.26 (n)
  • 45 (a)
(Danio rerio)
Actinopterygii tor3a 35
  • 60.76 (n)
  • 53.49 (a)
tor3a 36
  • 50 (a)
fruit fly
(Drosophila melanogaster)
Insecta Torsin 36
  • 27 (a)
(Caenorhabditis elegans)
Secernentea ooc-5 36
  • 27 (a)
tor-1 36
  • 29 (a)
tor-2 36
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7178 36
  • 35 (a)
Species with no ortholog for TOR3A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TOR3A Gene

Gene Tree for TOR3A (if available)
Gene Tree for TOR3A (if available)

Paralogs for TOR3A Gene

Paralogs for TOR3A Gene

(3) SIMAP similar genes for TOR3A Gene using alignment to 4 proteins: Pseudogenes for TOR3A Gene

genes like me logo Genes that share paralogs with TOR3A: view

Variants for TOR3A Gene

Sequence variations from dbSNP and Humsavar for TOR3A Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2296377 - 179,082,165(-) CAGGA(A/G)AAAGA reference, missense
rs875863 -- 179,093,150(+) TGGGC(C/T)GTGGA intron-variant
rs877763 -- 179,090,981(+) AGCCC(C/T)CAGTG intron-variant
rs912758 -- 179,085,557(+) TTTCT(G/T)GGCTG intron-variant
rs1128952 -- 179,095,990(+) ATTTT(C/T)CTAAA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for TOR3A Gene

Variant ID Type Subtype PubMed ID
nsv3721 CNV Insertion 18451855
esv2658665 CNV Deletion 23128226

Variation tolerance for TOR3A Gene

Residual Variation Intolerance Score: 79.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.51% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for TOR3A Gene

Disorders for TOR3A Gene

MalaCards: The human disease database

(5) MalaCards diseases for TOR3A Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
apperceptive agnosia
pervasive developmental disorder
  • pervasive development disorder
torsion dystonia
  • dystonia musculorum deformans
visual agnosia
  • primary visual agnosia
autistic disorder
  • autism
- elite association - COSMIC cancer census association via MalaCards
Search TOR3A in MalaCards View complete list of genes associated with diseases

Relevant External Links for TOR3A

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with TOR3A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TOR3A Gene

Publications for TOR3A Gene

  1. Molecular cloning of ADIR, a novel interferon responsive gene encoding a protein related to the torsins. (PMID: 11863361) Dron M. … Tovey M.G. (Genomics 2002) 3 4 23 67
  2. The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (PMID: 10644435) Ozelius L.J. … Breakefield X.O. (Genomics 1999) 2 3
  3. Proteomic analyses reveal distinct chromatin-associated and soluble transcription factor complexes. (PMID: 25609649) Li X. … Chen J. (Mol. Syst. Biol. 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Regulation of Torsin ATPases by LAP1 and LULL1. (PMID: 23569223) Zhao C. … Schlieker C. (Proc. Natl. Acad. Sci. U.S.A. 2013) 3

Products for TOR3A Gene

Sources for TOR3A Gene