TOR2A Gene
protein-coding GIFtS: 48
GCID: GC09M130493
|
|
torsin family 2, member A
| |
Aliases
for TOR2A gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Torsin Family 2, Member A1 2 | | Prosalusin1 | | TORP11 2 3 | | Torsin-2A3 | | Torsin-Related Protein 12 3 | | Torsin-2A3 | | FLJ147711 | | Torsin Family 2 Member A3 |
Export aliases for TOR2A gene to outside databasesPrevious GC identifers: GC09M121608 GC09M122140 GC09M123947 GC09M125869 GC09M127573 GC09M129533 GC09M100110 |
Summaries
for TOR2A gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TOR2A:
This gene encodes a member of the AAA family of adenosine triphosphatases with similarity to Clp proteases and heatshock proteins. Alternative splicing at this locus results in the translation of multiple isoforms of the encodedprotein, some of which contain salusin peptides in the C-terminal region. These peptides may play roles inhypotension, myocardial growth and the induction of mitogenesis, and may also be involved in the pathogenesis ofatherosclerosis. (provided by RefSeq, Oct 2011)
UniProtKB/Swiss-Prot: TOR2X_HUMAN, Q8N2E6Function: Salusins -alpha and -beta may be endocrine and/or paracrine factors able to increase intracellular calciumconcentrations and induce cell mitogenesis. Salusins may also be potent hypotensive peptides
Gene Wiki entry for TOR2A
|
Genomic Views
for TOR2A gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000009.11 NC_018920.1 NT_008470.19
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TOR2A gene promoter:
Max1 NF-1 p300 MyoD AP-4 RORalpha1 PPAR-gamma1 PPAR-gamma2 MRF-2
Other transcription factors
Search SABiosciences Chromatin IP Primers for TOR2A
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TOR2A |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 9q34.11 Ensembl cytogenetic band: 9q34.11 HGNC cytogenetic band: 9q34.11TOR2A Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 9 GeneLoc Exon Structure GeneLoc location for GC09M130493: view genomic region
(about GC identifiers)
Start:
|
130,493,803 bp from pter |
End:
|
130,497,604 bp from pter |
Size:
|
3,802 bases |
Orientation:
|
minus strand |
|
Proteins
for TOR2A gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: TOR2A_HUMAN, Q5JU69 (See
protein sequence)Recommended Name: Torsin-2A precursor Size: 321 amino acids; 35714 Da
Subcellular location: Secreted (Probable)
Sequence caution: Sequence=AAH80527.2; Type=Erroneous translation; Note=Wrong choice of frame; Sequence=AAI00908.2;Type=Miscellaneous discrepancy; Note=Probable cloning artifact; Sequence=AAI00909.2; Type=Miscellaneous discrepancy;Note=Probable cloning artifact; Sequence=AAI00910.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;Sequence=AAI00911.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact;
Secondary accessions: A4FU12 A4FU13 Q3ZCN9 Q3ZCP0 Q5JU68 Q66K87 Q6UXW6 Q8NAN5 Q96SL7Alternative splicing: 4 isoforms: Q5JU69-1 Q5JU69-2 Q5JU69-5 Q8N2E6-1 (Salusins -alpha and -beta peptides are derived from isoform 4)UniProtKB/Swiss-Prot: TOR2X_HUMAN, Q8N2E6 (See
protein sequence) Recommended Name: Prosalusin precursor Size: 242 amino acids; 26262 Da
Subcellular location: SecretedAlternative splicing: 4 isoforms: Q8N2E6-1 Q5JU69-1 Q5JU69-2 Q5JU69-5 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for TOR2A: NX_Q8N2E6
Post-translational modifications:
Amidation of salusin-alpha(29-Gly) by peptidylglycine alpha-amidating monooxygenase, PAM, converts Lys-241-Gly-242 toLys-241-NH2 and gives raise to salusin-alpha1
View neXtProt modification sites for NX_Q8N2E6
TOR2A Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (7 alternative transcripts):
NP_001078816.1 NP_001127902.1 NP_001127903.1 NP_001238947.1 NP_001238950.1 NP_001238952.1 NP_569726.2
ENSEMBL proteins: ENSP00000338317 ENSP00000362381 ENSP00000362378 ENSP00000413032
Human Recombinant Protein Products:
Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005576 | extracellular region |
IEA | -- | | GO:0005788 | endoplasmic reticulum lumen |
IDA | -- |
TOR2A for ontologies About GeneDecksing
TOR2A Antibody Products:
Assay Products for TOR2A: |
Protein
Domains /
Families
for TOR2A gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TOR2A for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q5JU69Graphical View of Domain Structure for InterPro Entry Q8N2E6ProtoNet protein and cluster: Q5JU69 1 Blocks protein family: IPB010448 Torsin
UniProtKB/Swiss-Prot: TOR2A_HUMAN, Q5JU69Similarity: Belongs to the clpA/clpB family. Torsin subfamilyUniProtKB/Swiss-Prot: TOR2X_HUMAN, Q8N2E6Similarity: Belongs to the clpA/clpB family. Torsin subfamily |
Function
for TOR2A gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Function Summary:
UniProtKB/Swiss-Prot: TOR2X_HUMAN, Q8N2E6Function: Salusins -alpha and -beta may be endocrine and/or paracrine factors able to increase intracellular calciumconcentrations and induce cell mitogenesis. Salusins may also be potent hypotensive peptides
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR2A (see all 4)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR2A |
Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table
TOR2A for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for TOR2A:
|
Pathways & Interactions
for TOR2A gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TOR2A
STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)
1 Interacting protein for TOR2A (ENSP000003623814) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0051085 | chaperone mediated protein folding requiring cofactor |
IEA | -- | | GO:0051260 | protein homooligomerization |
IDA | -- |
TOR2A for ontologies About GeneDecksing
|
Drugs & Compounds
for TOR2A gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for TOR2A
1 HMDB Compound for TOR2A About this table
Search CenterWatch for drugs/clinical trials and news about TOR2A / TOR2X
|
Transcripts
for TOR2A gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for TOR2A gene (7 alternative transcripts): NM_001085347.2 NM_001134430.2 NM_001134431.2 NM_001252018.1 NM_001252021.1 NM_001252023.1 NM_130459.3 Unigene Cluster for TOR2A: Torsin family 2, member A Hs.444106 [show with all ESTs]Unigene Representative Sequence: NM_13045910 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000336067 ENST00000373284(uc004brs.4 uc004brt.4) ENST00000373281(uc004brw.4)
ENST00000463577 ENST00000472723 ENST00000463256 ENST00000496460 ENST00000494135
ENST00000493439 ENST00000458505(uc022bnq.1 uc004bru.4 uc004brv.4 uc011maj.2)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TOR2A (see all 6)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TOR2A (see all 4)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 4): TOR2A (NM_001134431) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TOR2A | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TOR2A |
Additional cDNA sequence: AK027677.1 AK055034.1 AK075520.1 AY358180.1 BC022985.1 BC062340.1 BC080527.1 BC100907.1 BC100908.2 BC100909.2 BC100910.1 13 DOTS entries: DT.97797693 DT.100793360 DT.95362358 DT.121191740 DT.95266584 DT.100793363 DT.438963 DT.443433 DT.100703386 DT.121191703 DT.121191734 DT.91701773 DT.91741616 19 AceView cDNA sequences: BC032411 NM_144965 AK057342 BM987973 AK128011 BX106476 AA235536 AK074105 BI560277 BI908416 BC031281 AA410617 AA813084 BF951564 BE138646 AW268779 AW302989 BF851621 W22172
GeneLoc Exon Structure
5/9 Alternative Splicing Database (ASD) splice patterns (SP) for TOR2A (see all 9) About this scheme
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | ^ | 3a | · | 3b | · | 3c | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | · | 5c | · | 5d | · | 5e | · | 5f |
|---|
|
| SP1: | | | | | | | | | | | | | | | - | | - | | - | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | - | | | | - | | - | | - | | | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | - | | - | | - | | - | | - | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | - | | - | | | | - | | - | | - | | - | | - | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for TOR2A
|
Expression
for TOR2A gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| TOR2A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGGAAAGGC
About this image
See TOR2A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TOR2A
SOURCE GeneReport for Unigene cluster: Hs.444106
UniProtKB/Swiss-Prot: TOR2A_HUMAN, Q5JU69Tissue specificity: Isoform 1 is expressed ubiquitously, except in cardiac and endothelial tissues
UniProtKB/Swiss-Prot: TOR2X_HUMAN, Q8N2E6Tissue specificity: Isoform 4 is ubiquitously expressed, with high level in vascular endothelial cells and vascularsmooth muscle cells
SABiosciences Custom PCR Arrays for TOR2A
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TOR2A
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOR2A |
Orthologs
for TOR2A gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of animals.
Orthologs for TOR2A gene from 5/19 species (see all 19) About this table
ENSEMBL Gene Tree for TOR2A (if available)
TreeFam Gene Tree for TOR2A (if available) |
Paralogs
for TOR2A gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TOR2A gene
- TOR1A2 TOR4A2 TOR1B2 TOR3A2
3 SIMAP similar genes for TOR2A using alignment to 2 protein entries: TOR2A_HUMAN (see all proteins):TOR1A TOR1B TOR3A
TOR2A for paralogs About GeneDecksing
|
Genomic Variants
for TOR2A gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 9 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TOR2A (130493803 - 130497604 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TOR2A: -- | SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TOR2A |
|
Disorders
/ Diseases
for TOR2A gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TOR2A for disorders About GeneDecksing
OMIM gene information: 608052
OMIM disorders: --
7  diseases for TOR2A: About MalaCardsatherosclerosis torsion dystonia essential hypertension rheumatoid arthritis
hypertension arthritis neuroblastoma
Human Genome Epidemiology (HuGE) Navigator: TOR2A (1 document)
Export disorders for TOR2A gene to outside databases
|
Publications
for TOR2A gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for TOR2A gene, integrated from 9 sources (see all 25):
(articles sorted by number of sources associating them with TOR2A) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Salusins: newly identified bioactive peptides with hemodynamic and mitogenic activities. (PubMed id 12910263)1, 2, 9 Shichiri M.... Hirata Y. (2003)
- Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
- DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (2004)
- The TOR1A (DYT1) gene family and its role in early onset torsion dystonia. (PubMed id 10644435)1, 3 Ozelius L.J....Breakefield X.O. (1999)
- Serum levels of apelin, salusin-alpha and salusin-beta in normal pregnancy and preeclampsia. (PubMed id 22533552)1 Simsek Y....Ozer A. (2012)
- [Physicochemical characteristics of salusin-beta and establishment of the radioimmunoassay]. (PubMed id 21476293)1 Sato K....Shichiri M. (2011)
- Serum salusin-alpha level in rheumatoid arthritis. (PubMed id 21185876)1 Ozgen M....Isik A. (2011)
- Serum levels and urinary excretion of salusin-alpha i n renal insufficiency. (PubMed id 20346378)1 Kimoto S....Shichiri M. (2010)
- Chronic infusion of salusin-alpha and -beta exerts op posite effects on atherosclerotic lesion development in apolipoprotein E-defici ent mice. (PubMed id 20684826)1 Nagashima M....Hirano T. (2010)
- Release of salusin-beta from human monocytes/macropha ges. (PubMed id 20176058)1 Sato K....Shichiri M. (2010)
|
External Searches for TOR2A gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TOR2A gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TOR2A gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TOR2A gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for TOR2A | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TOR2A gene:
Search GeneIP for patents involving TOR2A
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TOR2A gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
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