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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TERC Gene

RNA gene   GIFtS: 35
GCID: GC03M169490

Telomerase RNA Component

Microbiology & Infectious Diseases Congress
  See 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)
About This Section

Subcategory (RNA class): telomerase RNA

Quality score for this RNA gene is 6

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

External Ids:    HGNC: 117271   Entrez Gene: 70122   Ensembl: ENSG000002701417   OMIM: 6023225   
ORGUL members:    fRNAdb10:FR012551 FR326286 FR326286 FR137949 FR374016      
H-InvDB12:HIT000389575    
NCBI13:AF221907 NR_001566 BC128029 U86046 AF221907 see all 11    
NONCODE14:u1021 u651 n5293 n5296 n689      
Rfam:RF00024    
RNAdb15:LIT2117    

Export aliases for TERC gene to outside databases

Previous GC identifers: GC03U990074 GC03M170803 GC03M170965 GC03M169483 GC03M166852 GC03M169486


(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 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 cervical intraepithelial neoplasia, and terc-related dyskeratosis congenita.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.2  NT_005612.16  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TERC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC03M169490:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
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, inGenious Targeting Laboratory, genOway,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

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:
     15/22 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  hematopoietic system  homeostasis/metabolism 
 immune system  integument  limbs/digits/tail  mortality/aging  muscle 

TERC for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Terctm1Rdp for TERC

   inGenious Targeting Laboratory - Custom generated mouse model solutions for TERC 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for TERC

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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section



Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TERC

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TERC for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TERC

10/32 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)

Search CenterWatch for drugs/clinical trials and news about TERC

(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,
Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section
5/6 fRNAdb Secondary structures (see all 6):


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)
Congresses - knowledge worth sharing:  
European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

miRNA
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Clone
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Primer
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  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TERC

Additional mRNA sequence: BC128029.1 

1 DOTS entry:

DT.70100349 

6 AceView cDNA sequences:

NR_001566 AI825849 AW293800 AW207347 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™, 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

Expression evidence for TERC:RNAdb

TERC expression in normal human tissues (normalized intensities)      TERC embryonic expression: see
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 
 5/1 selected tissues (see all 1) fully expand
 
 Epiblast (Early Embryonic Tissues)
         Epiblast Stem Cell line 5

SOURCE GeneReport for Unigene cluster: Hs.436182
    SABiosciences 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)
About This Section

This gene was present in the common ancestor of human and mouse.

Orthologs for TERC gene from 1 species (see representative species )    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 


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)
About This Section
  --

(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) 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

10/67 SNPs in TERC are shown (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
SABiosciences Cancer Mutation PCR Assays
1 SABiosciences qBiomarker Copy Number PCR Array 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 602322OMIM information:   
OMIM disorders: 127550  609135  178500  
20/95 diseases for TERC (see all 95):    About MalaCards
cervical intraepithelial neoplasia    terc-related dyskeratosis congenita    terc-related familial pulmonary fibrosis    dyskeratosis congenita
pulmonary fibrosis, familial    pulmonary fibrosis    pseudo-torch syndrome    inherited bone marrow failure syndromes
intrauterine infections    aplastic anemia    torch syndrome    benign tumors
malignant glioma    oral cancer    barrett's esophagus    skin cancer
renal agenesis    li-fraumeni syndrome    ependymoma    bladder carcinoma


TERC for disorders           About GeneDecksing

10/94 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)
About This Section

PubMed articles for TERC gene, integrated from 9 sources (see all 507):
(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. (2008)
  2. Telomere shortening in familial and sporadic pulmonary fibrosis. (PubMed id 18635888)1, 4, 9 Cronkhite J.T....Garcia C.K. (2008)
  3. Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. (PubMed id 19147845)1, 4, 9 Calado R.T.... Young N.S. (2009)
  4. Cell cycle-dependent recruitment of telomerase RNA and Cajal bodies to human telomeres. (PubMed id 16319170)1, 3, 9 Jady B.E....Kiss T. (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. (2004)
  6. The RNA component of human telomerase. (PubMed id 7544491)1, 3, 9 Feng J....Yu J. (1995)
  7. Genetic variants in eleven telomere-associated genes and the risk of incident cardio/cerebrovascular disease: The Women's Genome Hea lth Study. (PubMed id 20937264)1, 4 Zee R.Y....Chasman D.I. (2011)
  8. A common variant in the telomerase RNA component is a ssociated with short telomere length. (PubMed id 20885959)1, 4 Njajou O.T....Hsueh W.C. (2010)
  9. Telomerase gene mutation screening in Chinese patient s with aplastic anemia. (PubMed id 19942288)1, 4 Han B....Zhao Y. (2010)
  10. Multiple genetic variants in telomere pathway genes a nd breast cancer risk. (PubMed id 20056641)1, 4 Shen J....Santella R.M. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 7012 HGNC: 11727 AceView: TERC Ensembl:ENSG00000270141 euGenes: HUgn7012
ECgene: TERC H-InvDB: TERC

(According to HUGE)
About This Section
  --

(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
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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