This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the indu... See more...

Aliases for TOR2A Gene

Aliases for TOR2A Gene

  • Torsin Family 2 Member A 2 3 4 5
  • TORP1 2 3 4
  • Torsin-Related Protein 1 3 4
  • Prosalusin 3 4
  • Torsin-2A 3 4
  • Torsin Family 2, Member A 2
  • Salusin-Beta 3
  • FLJ14771 2
  • TOR2A 5

External Ids for TOR2A Gene

Previous GeneCards Identifiers for TOR2A Gene

  • GC09M121608
  • GC09M122140
  • GC09M123947
  • GC09M125869
  • GC09M127573
  • GC09M129533
  • GC09M130493
  • GC09M100110
  • GC09M127732

Summaries for TOR2A Gene

Entrez Gene Summary for TOR2A Gene

  • This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heat shock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encoded protein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles in hypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis of atherosclerosis. The antimicrobial peptide salusin-beta has antibacterial activity. [provided by RefSeq, Nov 2014]

GeneCards Summary for TOR2A Gene

TOR2A (Torsin Family 2 Member A) is a Protein Coding gene. Diseases associated with TOR2A include Dystonia 1, Torsion, Autosomal Dominant and Blepharospasm. Gene Ontology (GO) annotations related to this gene include hormone activity. An important paralog of this gene is TOR1B.

UniProtKB/Swiss-Prot Summary for TOR2A Gene

  • Salusins -alpha and -beta may be endocrine and/or paracrine factors able to increase intracellular calcium concentrations and induce cell mitogenesis. Salusins may also be potent hypotensive peptides.

Gene Wiki entry for TOR2A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TOR2A Gene

Genomics for TOR2A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TOR2A Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TOR2A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TOR2A

Top Transcription factor binding sites by QIAGEN in the TOR2A gene promoter:
  • AP-4
  • Max1
  • MRF-2
  • MyoD
  • NF-1
  • p300
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha1

Genomic Locations for TOR2A Gene

Latest Assembly
chr9:127,731,524-127,735,328
(GRCh38/hg38)
Size:
3,805 bases
Orientation:
Minus strand

Previous Assembly
chr9:130,493,803-130,497,573
(GRCh37/hg19 by Entrez Gene)
Size:
3,771 bases
Orientation:
Minus strand

chr9:130,493,803-130,497,604
(GRCh37/hg19 by Ensembl)
Size:
3,802 bases
Orientation:
Minus strand

Genomic View for TOR2A Gene

Genes around TOR2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOR2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOR2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOR2A Gene

Proteins for TOR2A Gene

  • Protein details for TOR2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JU69-TOR2A_HUMAN
    Recommended name:
    Torsin-2A
    Protein Accession:
    Q5JU69
    Secondary Accessions:
    • A4FU12
    • A4FU13
    • Q3ZCN9
    • Q3ZCP0
    • Q5JU68
    • Q66K87
    • Q6UXW6
    • Q8NAN5
    • Q96SL7

    Protein attributes for TOR2A Gene

    Size:
    321 amino acids
    Molecular mass:
    35714 Da
    Quaternary structure:
    • Homohexamer. Interacts with TOR1AIP1 (By similarity).
    SequenceCaution:
    • Sequence=AAH80527.2; Type=Erroneous translation; Note=Wrong choice of frame.; Evidence={ECO:0000305}; Sequence=AAI00908.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAI00909.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAI00910.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAI00911.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for TOR2A Gene

    UniProtKB/Swiss-Prot:
  • Protein details for TOR2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2E6-TOR2X_HUMAN
    Recommended name:
    Prosalusin
    Protein Accession:
    Q8N2E6

    Protein attributes for TOR2A Gene

    Size:
    242 amino acids
    Molecular mass:
    26262 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • [Isoform 4]: Salusins -alpha and -beta peptides are derived from isoform 4.

    Alternative splice isoforms for TOR2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOR2A Gene

Post-translational modifications for TOR2A Gene

  • Amidation of salusin-alpha(29-Gly) by peptidylglycine alpha-amidating monooxygenase, PAM, converts Lys-241-Gly-242 to Lys-241-NH2 and gives raise to salusin-alpha.
  • Glycosylation at Asn149
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

No data available for DME Specific Peptides for TOR2A Gene

Domains & Families for TOR2A Gene

Gene Families for TOR2A Gene

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

Protein Domains for TOR2A Gene

InterPro:
Blocks:
  • Torsin
ProtoNet:

Suggested Antigen Peptide Sequences for TOR2A Gene

GenScript: Design optimal peptide antigens:
  • Torsin-related protein 1 (TOR2A_HUMAN)
  • Torsin-2A (TOR2X_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q5JU69

UniProtKB/Swiss-Prot:

TOR2X_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 TOR2A: view

Function for TOR2A Gene

Molecular function for TOR2A Gene

UniProtKB/Swiss-Prot Function:
Salusins -alpha and -beta may be endocrine and/or paracrine factors able to increase intracellular calcium concentrations and induce cell mitogenesis. Salusins may also be potent hypotensive peptides.

Phenotypes From GWAS Catalog for TOR2A Gene

Gene Ontology (GO) - Molecular Function for TOR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005179 hormone activity IEA --
GO:0005524 ATP binding IEA --
GO:0016887 ATPase activity IBA 21873635
GO:0042802 identical protein binding IPI 20015956
genes like me logo Genes that share ontologies with TOR2A: view
genes like me logo Genes that share phenotypes with TOR2A: view

miRNA for TOR2A Gene

miRTarBase miRNAs that target TOR2A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR2A

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for TOR2A Gene

Localization for TOR2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOR2A Gene

Endoplasmic reticulum lumen.
Secreted.

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 TOR2A gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
nucleus 3
cytoskeleton 1
endosome 1
peroxisome 0
lysosome 0

Gene Ontology (GO) - Cellular Components for TOR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005635 nuclear envelope IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IBA,IDA 20015956
genes like me logo Genes that share ontologies with TOR2A: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TOR2A Gene

Pathways & Interactions for TOR2A Gene

PathCards logo

SuperPathways for TOR2A Gene

No Data Available

Gene Ontology (GO) - Biological Process for TOR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0051085 chaperone cofactor-dependent protein refolding IEA --
genes like me logo Genes that share ontologies with TOR2A: view

No data available for Pathways by source and SIGNOR curated interactions for TOR2A Gene

Drugs & Compounds for TOR2A Gene

(1) Drugs for TOR2A Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6876
genes like me logo Genes that share compounds with TOR2A: view

Transcripts for TOR2A Gene

mRNA/cDNA for TOR2A Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TOR2A

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for TOR2A Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c ^ 5a · 5b · 5c · 5d · 5e · 5f
SP1: - - - -
SP2: - - - - - -
SP3: - - - - -
SP4: - - - - - - -
SP5:
SP6: - - - - -
SP7: - - -
SP8: - -
SP9: -

Relevant External Links for TOR2A Gene

GeneLoc Exon Structure for
TOR2A

Expression for TOR2A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TOR2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for TOR2A Gene

This gene is overexpressed in Pancreas (32.4) and Peripheral blood mononuclear cells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TOR2A Gene



Protein tissue co-expression partners for TOR2A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TOR2A

SOURCE GeneReport for Unigene cluster for TOR2A Gene:

Hs.444106

mRNA Expression by UniProt/SwissProt for TOR2A Gene:

Q5JU69-TOR2A_HUMAN
Tissue specificity: Isoform 1 is expressed ubiquitously, except in cardiac and endothelial tissues.

Evidence on tissue expression from TISSUES for TOR2A Gene

  • Blood(4.2)
  • Nervous system(2.8)
genes like me logo Genes that share expression patterns with TOR2A: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOR2A Gene

Orthologs for TOR2A Gene

This gene was present in the common ancestor of animals.

Orthologs for TOR2A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TOR2A 30 31
  • 99.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TOR2A 30 31
  • 89.2 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TOR2A 30 31
  • 88.06 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Tor2a 30 17 31
  • 85.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tor2a 30
  • 83.8 (n)
Oppossum
(Monodelphis domestica)
Mammalia TOR2A 31
  • 74 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TOR2A 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TOR2A 30 31
  • 71.05 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tor2a 30
  • 61.45 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.6904 30
Zebrafish
(Danio rerio)
Actinopterygii tor2a 30 31
  • 54.31 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Torsin 31
  • 28 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tor-1 31
  • 34 (a)
ManyToMany
ooc-5 31
  • 32 (a)
ManyToMany
tor-2 31
  • 26 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.7178 31
  • 35 (a)
OneToMany
Species where no ortholog for TOR2A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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 TOR2A Gene

ENSEMBL:
Gene Tree for TOR2A (if available)
TreeFam:
Gene Tree for TOR2A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TOR2A: view image

Paralogs for TOR2A Gene

Paralogs for TOR2A Gene

(3) SIMAP similar genes for TOR2A Gene using alignment to 2 proteins:

  • TOR2A_HUMAN
  • TOR2X_HUMAN
genes like me logo Genes that share paralogs with TOR2A: view

Variants for TOR2A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TOR2A Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs200194338 Benign: not provided 127,732,093(-) G/T
NM_001085347.3(TOR2A):c.907C>A (p.Gln303Lys)
MISSENSE_VARIANT,THREE_PRIME_UTR
rs538066 - p.Lys203Glu

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TOR2A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TOR2A Gene

Variant ID Type Subtype PubMed ID
dgv12879n54 CNV loss 21841781
nsv466571 CNV loss 19166990
nsv471323 CNV loss 18288195
nsv615369 CNV loss 21841781

Variation tolerance for TOR2A Gene

Residual Variation Intolerance Score: 42.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.71; 46.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TOR2A Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOR2A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOR2A Gene

Disorders for TOR2A Gene

MalaCards: The human disease database

(4) MalaCards diseases for TOR2A Gene - From: COP and GCD

Disorder Aliases PubMed IDs
dystonia 1, torsion, autosomal dominant
  • dyt1
blepharospasm
spasmodic dystonia
  • laryngeal dystonia
dystonia
  • dystonic disease
- elite association - COSMIC cancer census association via MalaCards
Search TOR2A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TOR2A

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TOR2A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TOR2A Gene

Publications for TOR2A Gene

  1. Salusins: newly identified bioactive peptides with hemodynamic and mitogenic activities. (PMID: 12910263) Shichiri M … Hirata Y (Nature medicine 2003) 3 4 23
  2. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  3. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  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

Products for TOR2A Gene

Sources for TOR2A Gene