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
  • ADIR 3 4
  • ATP-Dependant Interferon Response Protein 1 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Torsin Family 3, Member A 2
  • 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
  • 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 TOR1A.

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 for TOR3A Gene

Promoters and enhancers for TOR3A Gene
GeneHancer (GH) Identifier GH Type GH
Score
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 515.5 +0.7 729 4.2 HNRNPK ZBTB40 ZNF217 SIN3A NRF1 POLR2G USF1 SP1 NCOR1 GTF2E2 TOR3A ABL2 AXDND1 lnc-ABL2-1
GH01J179023 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 24.6 -56.1 -56084 3.9 ZNF217 NRF1 POLR2G SP1 NCOR1 GTF2E2 PHF8 JUND ZFX ZNF639 FAM20B TOR3A AXDND1 RALGPS2 ENSG00000232750 lnc-ABL2-2
GH01J179293 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 26.1 +212.6 212567 3.7 ZNF217 SIN3A NRF1 USF1 POLR2G SP1 GTF2E2 PHF8 CTCF ZFX SOAT1 TOR3A AXDND1 TDRD5 LOC100420262
GH01J179139 Promoter/Enhancer 1.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 29 +60.6 60623 5.6 TCF12 JUND FOS POLR2A ZNF623 EP300 DEK FOSL2 CEBPB JUN ABL2 TOR3A AXDND1 SOAT1 piR-33303-009 HSALNG0008750
GH01J179228 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 17.5 +147.4 147421 3.2 HNRNPK ZSCAN5C SIN3A NRF1 POLR2G PHF8 FOS ZFX ZIC2 ZBTB26 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 UCSC Golden Path with GeneCards custom track

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
chr1:179,081,977-179,098,023
(GRCh38/hg38)
Size:
16,047 bases
Orientation:
Plus strand
chr1:179,050,512-179,067,158
(GRCh37/hg19)
Size:
16,647 bases
Orientation:
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:
    Q9H497-TOR3A_HUMAN
    Recommended name:
    Torsin-3A
    Protein Accession:
    Q9H497
    Secondary Accessions:
    • B4DSY0
    • B7ZB65
    • Q5M7Y7
    • Q8WVA7
    • Q8WWM2
    • Q9H495
    • Q9H6E7

    Protein attributes for TOR3A Gene

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

    Alternative splice isoforms for TOR3A Gene

    UniProtKB/Swiss-Prot:

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for TOR3A Gene

Blocks:
  • Torsin
InterPro:
ProtoNet:

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

Q9H497

UniProtKB/Swiss-Prot:

TOR3A_HUMAN :
  • Belongs to the ClpA/ClpB family. Torsin subfamily.
Family:
  • 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:0005524 ATP binding IEA --
GO:0016887 ATPase activity 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

Clone Products

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

COMPARTMENTS
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
nucleus 4
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 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 IDA,IEA 11863361
GO:0005788 endoplasmic reticulum lumen IDA,IBA 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

None

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

1 REFSEQ mRNAs :
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

Clone Products

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: - -
SP9:
SP10: - -

Relevant External Links for TOR3A Gene

GeneLoc Exon Structure for
TOR3A

Expression for TOR3A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, 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:

Hs.584957

mRNA Expression by UniProt/SwissProt for TOR3A Gene:

Q9H497-TOR3A_HUMAN
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

  • Pancreas(4.3)
  • Kidney(4.2)
  • Muscle(4.2)
  • Stomach(4.2)
  • Eye(4)
  • Nervous system(3.1)
genes like me logo Genes that share expression patterns with TOR3A: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
chimpanzee
(Pan troglodytes)
Mammalia TOR3A 31 30
  • 99.58 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TOR3A 31 30
  • 82.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TOR3A 31 30
  • 82.17 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tor3a 17 31 30
  • 78.33 (n)
rat
(Rattus norvegicus)
Mammalia Tor3a 30
  • 76.89 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 61 (a)
OneToMany
-- 31
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TOR3A 31
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOR3A 31 30
  • 67.73 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TOR3A 31
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tor3a 30
  • 54.26 (n)
zebrafish
(Danio rerio)
Actinopterygii tor3a 31 30
  • 60.76 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Torsin 31
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea tor-1 31
  • 29 (a)
ManyToMany
ooc-5 31
  • 27 (a)
ManyToMany
tor-2 31
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7178 31
  • 35 (a)
OneToMany
Species where no ortholog for TOR3A was found in the sources mined by GeneCards:
  • 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

ENSEMBL:
Gene Tree for TOR3A (if available)
TreeFam:
Gene Tree for TOR3A (if available)
Aminode:
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:

  • TOR3A_HUMAN
  • F2Z3J4_HUMAN
  • Q5W0C6_HUMAN
  • Q5W0C9_HUMAN

Pseudogenes.org 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
TOR3A

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

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

Disorder Aliases PubMed IDs
echolalia
atypical autism
  • pdd
apperceptive agnosia
childhood disintegrative disease
  • disintegrative psychosis
expressive language disorder
  • developmental expressive language 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 MG (Genomics 2002) 3 4 23 54
  2. 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 54
  3. 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 54
  4. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 54
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54

Products for TOR3A Gene

Sources for TOR3A Gene