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Aliases for TOR2A Gene

Aliases for TOR2A Gene

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

External Ids for TOR2A Gene

Previous GeneCards Identifiers for TOR2A Gene

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

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 torsion dystonia and atherosclerosis. GO annotations related to this gene include hormone activity and nucleoside-triphosphatase activity. An important paralog of this gene is TOR4A.

UniProtKB/Swiss-Prot 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOR2A Gene

Genomics for TOR2A Gene

Regulatory Elements for TOR2A Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for TOR2A Gene

Start:
127,731,524 bp from pter
End:
127,735,349 bp from pter
Size:
3,826 bases
Orientation:
Minus strand

Genomic View for TOR2A Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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
    Secondary Accessions:

    Protein attributes for TOR2A Gene

    Size:
    242 amino acids
    Molecular mass:
    26262 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TOR2A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TOR2A Gene

Proteomics data for TOR2A Gene at MOPED

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

No data available for DME Specific Peptides for TOR2A Gene

Domains for TOR2A Gene

Protein Domains for TOR2A Gene

Suggested Antigen Peptide Sequences for TOR2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q5JU69

UniProtKB/Swiss-Prot:

TOR2X_HUMAN :
  • Q5JU69
Family:
  • 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 TOR2A: view

No data available for Gene Families for TOR2A Gene

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.

Gene Ontology (GO) - Molecular Function for TOR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005179 hormone activity IEA --
GO:0005515 protein binding --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with TOR2A: view

Phenotypes for TOR2A Gene

GenomeRNAi human phenotypes for TOR2A:
genes like me logo Genes that share phenotypes with TOR2A: view

Animal Model Products

CRISPR Products

miRNA for TOR2A Gene

miRTarBase miRNAs that target TOR2A

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting 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
Jensen Localization Image for TOR2A Gene COMPARTMENTS Subcellular localization image for TOR2A gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TOR2A Gene

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

Pathways for TOR2A Gene

SuperPathways for TOR2A Gene

No Data Available

Interacting Proteins for TOR2A Gene

Gene Ontology (GO) - Biological Process for TOR2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0051085 chaperone mediated protein folding requiring cofactor IEA --
GO:0051260 protein homooligomerization IDA 20015956
genes like me logo Genes that share ontologies with TOR2A: view

No data available for Pathways by source for TOR2A Gene

Compounds for TOR2A Gene

(1) HMDB Compounds for TOR2A Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
genes like me logo Genes that share compounds with TOR2A: view

Transcripts for TOR2A Gene

Unigene Clusters for TOR2A Gene

Torsin family 2, member A:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TOR2A

Primer Products

Flow Cytometry Products

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
ECgene alternative splicing isoforms for
TOR2A

Expression for TOR2A Gene

mRNA expression in normal human tissues for TOR2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TOR2A Gene

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.
genes like me logo Genes that share expressions with TOR2A: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues 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 35
  • 99.79 (n)
  • 99.38 (a)
TOR2A 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TOR2A 35
  • 89.2 (n)
  • 87.85 (a)
TOR2A 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TOR2A 35
  • 88.06 (n)
  • 89.1 (a)
TOR2A 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tor2a 35
  • 85.67 (n)
  • 86.6 (a)
Tor2a 16
Tor2a 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TOR2A 36
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOR2A 36
  • 73 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tor2a 35
  • 83.8 (n)
  • 86.92 (a)
chicken
(Gallus gallus)
Aves TOR2A 35
  • 71.05 (n)
  • 64.54 (a)
TOR2A 36
  • 61 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.6904 35
tropical clawed frog
(Silurana tropicalis)
Amphibia tor2a 35
  • 61.45 (n)
  • 58.5 (a)
zebrafish
(Danio rerio)
Actinopterygii tor2a 35
  • 54.31 (n)
  • 46.6 (a)
tor2a 36
  • 44 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Torsin 36
  • 28 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ooc-5 36
  • 32 (a)
ManyToMany
tor-1 36
  • 34 (a)
ManyToMany
tor-2 36
  • 26 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.7178 36
  • 35 (a)
OneToMany
Species with no ortholog for TOR2A:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TOR2A Gene

Paralogs for TOR2A Gene

Selected SIMAP similar genes for TOR2A Gene using alignment to 2 proteins:

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

Variants for TOR2A Gene

Sequence variations from dbSNP and Humsavar for TOR2A Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs482712 -- 127,734,136(+) GCCAG(A/G)TAGAA intron-variant
rs515182 -- 127,732,532(+) GAAGC(C/T)GCCCG intron-variant, utr-variant-3-prime
rs534652 -- 127,732,388(+) CAGCC(A/G)CCTTC intron-variant, utr-variant-3-prime
rs536262 -- 127,732,512(+) CTGGC(C/T)CCTGG intron-variant, utr-variant-3-prime
rs538066 - 127,732,678(+) CTGCT(C/T)GCCAC intron-variant, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
nsv893859 CNV Loss 21882294
nsv893860 CNV Gain 21882294
nsv893865 CNV Loss 21882294
nsv893866 CNV Gain 21882294
nsv893867 CNV Loss 21882294
nsv893868 CNV Loss 21882294
dgv8287n71 CNV Loss 21882294
nsv466571 CNV Loss 19166990
nsv893870 CNV Loss 21882294
nsv471323 CNV Loss 18288195

Relevant External Links for TOR2A Gene

HapMap Linkage Disequilibrium report
TOR2A

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

Disorders for TOR2A Gene

MalaCards: The human disease database

MalaCards: The human disease database. (2) Diseases for TOR2A Gene including...

Search for TOR2A Gene in MalaCards »

Relevant External Links for TOR2A

Genetic Association Database (GAD)
TOR2A
Human Genome Epidemiology (HuGE) Navigator
TOR2A
genes like me logo Genes that share disorders with TOR2A: view

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

Publications for TOR2A Gene

  1. Salusins: newly identified bioactive peptides with hemodynamic and mitogenic activities. (PMID: 12910263) Shichiri M. … Hirata Y. (Nat. Med. 2003) 3 4 23
  2. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4
  3. 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
  4. 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 Res. 2005) 3 4
  5. Transcriptome analysis of human gastric cancer. (PMID: 16341674) Oh J.H. … Kim N.S. (Mamm. Genome 2005) 3

Products for TOR2A Gene

Sources for TOR2A Gene

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