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TERC Gene

RNA gene   GIFtS: 34
GCID: GC03M169496

Telomerase RNA Component

  See TERC-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Subcategory (RNA class): telomerase RNA

Quality score for this RNA gene is 10

Aliases
Telomerase RNA Component1 2     TRC32 5
DKCA12 5     Small Cajal Body-Specific RNA 191
PFBMFT22 5     SCARNA192
TR2 5     hTR2

External Ids:    HGNC: 117271   Entrez Gene: 70122   Ensembl: ENSG000002701417   OMIM: 6023225   
ORGUL members:    fRNAdb10:FR012551 FR326286 FR237438 FR152916      
H-InvDB12: HIT000389575    
NCBI13:AF047386 AF047386    
NONCODE14:u651    
Rfam:RF00024    

Export aliases for TERC gene to outside databases

Previous GC identifers: GC03U990074 GC03M170803 GC03M170965 GC03M169483 GC03M166852 GC03M169486 GC03M169490


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TERC Gene:
Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat
TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, and an RNA component,
encoded by this gene, that serves as a template for the telomere repeat. Telomerase expression plays a role in
cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening
of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in
mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere
repeats may occur at double-stranded breaks. Mutations in this gene cause autosomal dominant dyskeratosis
congenita, and may also be associated with some cases of aplastic anemia. (provided by RefSeq, Jul 2008)

GeneCards Summary for TERC Gene:
TERC (telomerase RNA component) is an RNA gene, and is affiliated with the telomerase RNA class. Diseases associated with TERC include terc-related dyskeratosis congenita, and cervical intraepithelial neoplasia.

Gene Wiki entry for TERC (Telomerase RNA component) Gene

fRNAdb sequence ontology for TERC:
telomerase_RNA - The RNA component of telomerase, a reverse transcriptase that synthesises telomeric DNA.

View fRNAdb secondary structures for TERC

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the TERC gene promoter:
         AREB6   FOXI1   HFH-3   p53   Sp1   FOXJ2 (long isoform)   FOXJ2   GATA-1   Arnt   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TERC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TERC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q26   Ensembl cytogenetic band:  3q26.2   HGNC cytogenetic band: 3q26.2

TERC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TERC gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M169496:  view genomic region     (about GC identifiers)

Start:
169,482,308 bp from pter      End:
169,482,848 bp from pter
Size:
541 bases      Orientation:
minus strand
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for TERC

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
MISCRNA: ncRNAs / Small misc ncRNAs

  --

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:
     Genatlas biochemistry entry for TERC:
telomerase RNA component,involved in telomere maintenance as template in telomeric DNA synthesis,transcription
up-regulated by endogeneous TERT,strongly expressed in embryonic tissues (undifferentialed
neuroepithelium,epithelium,mesenchymes) absent in differentiated tissues except dividing cells (testis,lymphoid
follicles,regenerative epithelia)

Phenotypes:
     Selected MGI mutant phenotypes (inferred from 1 allele(MGI details for Terc) (see all 22):
 adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
 embryogenesis  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
 immune system  integument  limbs/digits/tail  mortality/aging  muscle 

Find genes that share phenotypes with TERC           About GenesLikeMe

Animal Models:
     MGI mouse knock-out Terctm1Rdp for TERC

   genOway: Develop your customized and physiologically relevant rodent model for TERC

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TERC
Interactions:

    GeneGlobe Interaction Network for TERC

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for TERC

Selected Novoseek inferred chemical compound relationships for TERC gene (see all 32)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
tin(2+) 73.8 7 17616810 (2), 11494028 (1), 18669893 (1), 12007281 (1) (see all 5)
pseudouridine 51.4 2 10903840 (1), 18936525 (1)
2',5'-oligoadenylate 48.6 14 18369820 (2), 11223987 (1), 11351264 (1), 16978086 (1) (see all 6)
oligonucleotide 41.2 16 18369820 (2), 11223987 (1), 11320413 (1), 11788719 (1) (see all 14)
lipofectamine 30.1 1 11866938 (1)
phosphorothioate 27.2 2 9630953 (1)
rrna 22.6 3 16841302 (3)
oligodeoxyribonucleotides 13.5 1 11501185 (1)
adriamycin 9.83 4 20459048 (1), 14607648 (1)
cisplatin 9.64 13 17923759 (4), 9274448 (2), 12581964 (2), 11351264 (1) (see all 5)



Find genes that share compounds with TERC           About GenesLikeMe



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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2 fRNAdb Secondary structures:


Unigene Cluster for TERC:

Telomerase RNA component
Hs.436182  [show with all ESTs]
Unigene Representative Sequence: BC128029
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000602385(lincRNA) ENST00000363312(lincRNA)(uc003ffr.1)
miRNA
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Additional mRNA sequence: BC128029.1 

1 DOTS entry:

DT.70100349 

6 AceView cDNA sequences:

NR_001566 AW293800 AW207347 AI825849 AI380754 AW136367 

GeneLoc Exon Structure


(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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Expression evidence for TERC:H-invDB

TERC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
TERC Expression
About this image


TERC expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 NULL (Uncategorized)
         Mesenchymal Progenitor Cells - Passage 2
 
 Epiblast (Early Embryonic Tissues)
         Epiblast Stem Cell line 5
TERC Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.436182
    Custom PCR Arrays for TERC
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TERC

(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)
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This gene was present in the common ancestor of chordates.

Orthologs for TERC gene from Selected species (see all 8)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Terc5 telomerase RNA component   --   3 (41.82 cM) 96414437 
chicken
(Gallus gallus)
Aves Telomerase-vert6
Vertebrate telomerase RNA
76(a)
1 ↔ 1
9(19428817-19428871) ENSGALG00000017787
lizard
(Anolis carolinensis)
Reptilia Telomerase-vert6
Vertebrate telomerase RNA
48(a)
1 ↔ 1
3(8008751-8009155)
zebrafish
(Danio rerio)
Actinopterygii Telomerase-vert6
Vertebrate telomerase RNA
48(a)
1 ↔ 1
25(20478491-20478810)


ENSEMBL Gene Tree for TERC (if available)
TreeFam Gene Tree for TERC (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for TERC (see all 67)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 3 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1994222841,2
Cpathogenic1169482441(-) CGATTA/C/GCCTGA 2 -- nc-transcript-variant0--------
rs1416863141,2
Cpathogenic1169482621(+) CTGGGC/TAGGCG 1 -- nc-transcript-variant0--------
rs1134879311,2
C,Fpathogenic1169482791(+) CTTCTC/TAGTTA 1 -- nc-transcript-variant2Minor allele frequency- T:0.06CSA WA 119
rs1931787511,2
--169481919(+) TCATCA/GCCAAG 1 -- ds50010--------
rs1512137161,2
C--169482033(+) ATTAAA/CTGTTA 1 -- ds50010--------
rs1832490231,2
--169482106(+) TACCTC/TGGGAG 1 -- ds50010--------
rs350737941,2
C,F--169482135(-) CTCTGC/TAGATT 1 -- ds50017Minor allele frequency- T:0.03MN NA 530
rs22936071,2
C,F--169482335(-) CGGCAA/GTGGGG 1 -- ds50018Minor allele frequency- G:0.36MN NA EA 646
rs1403093911,2
--169482346(+) GCGAGA/GGGTGA 1 -- ds50010--------
rs1503382141,2
--169482386(+) CAACAA/GGAAAG 1 -- ds50010--------

HapMap Linkage Disequilibrium report for TERC (169482308 - 169482848 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for TERC:    About this table    
Variant IDTypeSubtypePubMed ID
esv2422204CNV Deletion17116639
nsv7356OTHER Inversion18451855

Human Gene Mutation Database (HGMD): TERC
Locus Specific Mutation Databases (LSDB): TERC

Site Specific Mutation Identification with PCR Assays
1 Copy Number PCR Panel containing TERC:
Oncogenes & Tumor Suppressor Genes 384HC
Search QIAGEN SeqTarget long-range PCR primers for resequencing TERC
DNA2.0 Custom Variant and Variant Library Synthesis for TERC

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602322OMIM information:   
OMIM disorders: 127550  614743  
Selected diseases for TERC (see all 22):    
About MalaCards
terc-related dyskeratosis congenita    cervical intraepithelial neoplasia    dyskeratosis congenita, autosomal dominant 1    terc-related familial pulmonary fibrosis
aplastic anemia    torch syndrome    inherited bone marrow failure syndromes    intrauterine infections
malignant glioma    pseudo-torch syndrome    barrett's esophagus    idiopathic pulmonary fibrosis
pulmonary fibrosis    polyploidy    pulmonary fibrosis, familial    dyskeratosis congenita
oral cancer    endometrial carcinoma    dyskeratosis congenita, autosomal recessive 4    cervical cancer


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Selected Novoseek inferred disease relationships for TERC gene (see all 94)    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
dyskeratosis congenita 94.6 35 15886322 (2), 14630445 (2), 16470156 (1), 17206847 (1) (see all 28)
dyskeratosis congenita, autosomal dominant 92.6 14 17206847 (1), 16284252 (1), 17392301 (1), 12676774 (1) (see all 11)
hoyeraal-hreidarsson syndrome 77.5 1 12833411 (1)
anemia aplastic 65.9 20 16825992 (3), 12676774 (2), 15319288 (2), 18710936 (1) (see all 12)
cancer 60 111 18562689 (4), 11866885 (3), 15847061 (3), 20368821 (3) (see all 59)
cervical dysplasia 49.7 1 14507648 (1)
tumors 47.9 142 10091748 (4), 9094971 (4), 9329458 (3), 15043789 (3) (see all 65)
leukoplakia 40.5 1 11167139 (1)
carcinoma 40.3 51 16133023 (7), 15043789 (5), 12487901 (5), 15481329 (2) (see all 20)
germ-line mutation 37.2 4 18753630 (1), 17392301 (1), 17913752 (1)

GeneTests: TERC
GeneReviews: TERC
Genetic Association Database (GAD): TERC
Human Genome Epidemiology (HuGE) Navigator: TERC (22 documents)

Export disorders for TERC gene to outside databases

(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)
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PubMed articles for TERC gene, integrated from 10 sources (see all 509):
(articles sorted by number of sources associating them with TERC)
    Utopia: connect your pdf to the dynamic
world of online information

  1. TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. (PubMed id 18931339)1, 4, 9 Du H.Y....Bessler M. (Blood 2009)
  2. Telomere shortening in familial and sporadic pulmonary fibrosis. (PubMed id 18635888)1, 4, 9 Cronkhite J.T....Garcia C.K. (Am. J. Respir. Crit. Care Med. 2008)
  3. Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. (PubMed id 19147845)1, 4, 9 Calado R.T.... Young N.S. (Proc. Natl. Acad. Sci. U.S.A. 2009)
  4. Cell cycle-dependent recruitment of telomerase RNA and Cajal bodies to human telomeres. (PubMed id 16319170)1, 3, 9 JA!dy B.E....Kiss T. (Mol. Biol. Cell 2006)
  5. Lack of mutations in the human telomerase RNA component (hTERC) gene in Fanconi's anemia. (PubMed id 15339688)1, 4, 9 Calado R.T....Zago M.A. (Haematologica 2004)
  6. The RNA component of human telomerase. (PubMed id 7544491)1, 3, 9 Feng J....Yu J. (Science 1995)
  7. Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Health Study. (PubMed id 20937264)1, 4 Zee R.Y....Chasman D.I. ( international journal of clinical chemistry 2011)
  8. A common variant in the telomerase RNA component is associated with short telomere length. (PubMed id 20885959)1, 4 Njajou O.T....Hsueh W.C. (PLoS ONE 2010)
  9. Telomerase gene mutation screening in Chinese patients with aplastic anemia. (PubMed id 19942288)1, 4 Han B....Zhao Y. (Leuk. Res. 2010)
  10. Multiple genetic variants in telomere pathway genes and breast cancer risk. (PubMed id 20056641)1, 4 Shen J....Santella R.M. (amp 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 7012 HGNC: 11727 AceView: TERC Ensembl:ENSG00000270141 euGenes: HUgn7012
ECgene: TERC H-InvDB: TERC

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for TERC Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for TERC Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for TERC gene:
Search GeneIP for patents involving TERC

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

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  Search antibodies-online for antibodies for TERC
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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