Aliases for TOR3A Gene

Aliases for TOR3A Gene

  • Torsin Family 3 Member A 2 3 4 5
  • ATP-Dependent Interferon-Responsive Protein 3 4
  • ATP-Dependant Interferon Responsive 2 3
  • Torsin-3A 3 4
  • ADIR2 2 3
  • ADIR 3 4
  • ATP-Dependant Interferon Response Protein 1 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Torsin Family 3, Member A 2
  • FLJ22345 2
  • TOR3A 5

External Ids for TOR3A Gene

Previous HGNC Symbols for TOR3A Gene

  • ADIR

Previous GeneCards Identifiers for TOR3A Gene

  • GC00U990670
  • GC01P174479
  • GC01U900786
  • GC01P176290
  • GC01P175782
  • GC01P177317
  • GC01P179050
  • 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 Echolalia and Atypical Autism. Gene Ontology (GO) annotations related to this gene include ATPase activity. An important paralog of this gene is TOR1B.

Additional gene information for TOR3A Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOR3A Gene

Genomics for TOR3A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TOR3A Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J179080 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 615.5 +0.6 636 4.2 SP1 HNRNPL GATAD2A PRDM10 TFE3 RFX1 ZNF692 POLR2A BACH1 JUND TOR3A MN309019 CEP350 TOR1AIP1 ABL2 AXDND1
GH01J179293 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 26.1 +212.5 212474 3.7 CEBPG SP1 HNRNPL CREB1 GATAD2A PRDM10 ZNF629 TFE3 ZNF512 RFX1 SOAT1 TOR3A AXDND1 LHX4 TDRD5 LOC100420262
GH01J179139 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29 +60.5 60530 5.6 IKZF1 SP1 JUND EGR1 CEBPB EZH2 JUN TCF12 FOS FOSL1 ABL2 lnc-ANGPTL1-6 TOR3A AXDND1 SOAT1 piR-33303-009
GH01J179023 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.8 -56.2 -56177 3.9 SP1 HNRNPL GATAD2A PRDM10 LEF1 IKZF1 ZNF692 BACH1 TARDBP ETV6 FAM20B TOR3A RALGPS2 CEP350 AXDND1 ENSG00000232750 lnc-ABL2-2
GH01J179228 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 17.5 +147.3 147328 3.2 PRDM10 LEF1 IKZF1 ZNF692 LARP7 MTA2 ZIC2 RBFOX2 POLR2A MTA1 ABL2 TOR3A AXDND1 ENSG00000225711 lnc-SOAT1-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TOR3A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOR3A

Top Transcription factor binding sites by QIAGEN in the TOR3A gene promoter:
  • AREB6
  • Chx10
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • Nkx3-1 v3
  • Nkx3-1 v4
  • Pax-5
  • SEF-1 (1)

Genomic Locations for TOR3A Gene

Genomic Locations for TOR3A Gene
15,954 bases
Plus strand
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

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

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TOR3A Gene

  • Torsin

Suggested Antigen Peptide Sequences for TOR3A Gene

GenScript: Design optimal peptide antigens:
  • Torsin family 3 member A (TOR3A_HUMAN)

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

Phenotypes From GWAS Catalog for TOR3A Gene

Gene Ontology (GO) - Molecular Function for TOR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IBA,IDA 23569223
genes like me logo Genes that share ontologies with TOR3A: view
genes like me logo Genes that share phenotypes with TOR3A: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR3A

No data available for Molecular function , Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TOR3A gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 4
nucleus 4
mitochondrion 2
plasma membrane 1
cytoskeleton 1
cytosol 1
golgi apparatus 1
peroxisome 0
lysosome 0

Gene Ontology (GO) - Cellular Components for TOR3A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope IBA 21873635
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA,IDA 11863361
GO:0005788 endoplasmic reticulum lumen IBA,IDA 11863361
GO:0070062 extracellular exosome HDA 19199708
genes like me logo Genes that share ontologies with TOR3A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TOR3A Gene

Pathways & Interactions for TOR3A Gene

PathCards logo

SuperPathways for TOR3A Gene

No Data Available

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

mRNA/cDNA for TOR3A Gene

14 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR3A

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

Expression for TOR3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TOR3A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Colon (Gastrointestinal Tract)
  • Lung (Respiratory System)

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, MaxQB, and MOPED for TOR3A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOR3A

SOURCE GeneReport for Unigene cluster for TOR3A Gene:


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.

Evidence on tissue expression from TISSUES for TOR3A Gene

  • Muscle(4.4)
  • Kidney(4.4)
  • Pancreas(4.3)
  • Eye(4.2)
  • Stomach(4.2)
  • Nervous system(3.6)
  • Skin(3.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with TOR3A: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia TOR3A 30 31
  • 99.58 (n)
(Canis familiaris)
Mammalia TOR3A 30 31
  • 82.19 (n)
(Bos Taurus)
Mammalia TOR3A 30 31
  • 82.17 (n)
(Mus musculus)
Mammalia Tor3a 30 17 31
  • 78.33 (n)
(Rattus norvegicus)
Mammalia Tor3a 30
  • 76.89 (n)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 61 (a)
-- 31
  • 58 (a)
(Monodelphis domestica)
Mammalia TOR3A 31
  • 59 (a)
(Gallus gallus)
Aves TOR3A 30 31
  • 67.73 (n)
(Anolis carolinensis)
Reptilia TOR3A 31
  • 55 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tor3a 30
  • 54.26 (n)
(Danio rerio)
Actinopterygii tor3a 30 31
  • 60.76 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Torsin 31
  • 27 (a)
(Caenorhabditis elegans)
Secernentea tor-1 31
  • 29 (a)
ooc-5 31
  • 27 (a)
tor-2 31
  • 24 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7178 31
  • 35 (a)
Species where no ortholog for TOR3A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Evolutionary constrained regions (ECRs) for TOR3A: view image

Paralogs for TOR3A Gene

Paralogs for TOR3A Gene

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

  • F2Z3J4_HUMAN
  • Q5W0C6_HUMAN
  • Q5W0C9_HUMAN Pseudogenes for TOR3A Gene

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

Variants for TOR3A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOR3A Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs2296377 - p.Phe13Leu

Additional dbSNP identifiers (rs#s) for TOR3A Gene

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

Variant ID Type Subtype PubMed ID
esv2658665 CNV deletion 23128226
esv3588046 CNV loss 21293372
nsv3721 CNV insertion 18451855

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)

Additional Variant Information for TOR3A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR3A Gene

Disorders for TOR3A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
atypical autism
  • pdd
childhood disintegrative disease
  • disintegrative psychosis
apperceptive agnosia
speech and communication disorders
  • communication disorder
- elite association - COSMIC cancer census association via MalaCards
Search TOR3A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TOR3A

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 MG (Genomics 2002) 3 4 23
  2. Relative tissue expression of homologous torsinB correlates with the neuronal specific importance of DYT1 dystonia-associated torsinA. (PMID: 20015956) Jungwirth M … Goodchild R (Human molecular genetics 2010) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for TOR3A Gene

Sources for TOR3A Gene