Aliases
for TERC gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
Subcategory (RNA class): telomerase RNA
Quality score for this RNA gene is 5
| Aliases |
|---|
| Telomerase RNA Component1 2 | | HTR1 | | TR1 2 5 | | DKCA12 | | TRC31 2 5 | | PFBMFT22 | | SCARNA191 2 | | |
| External Ids: | HGNC: 117271 | Entrez Gene: 70122 | Ensembl: ENSG000002001827 | OMIM: 6023225 |
Export aliases for TERC gene to outside databasesPrevious GC identifers: GC03U990074 GC03M170803 GC03M170965 GC03M169483 GC03M166852
|---|
Summaries
for TERC 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 TERC:
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 thisgene, that serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, asit is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation oftelomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase alsoparticipates 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 ofaplastic anemia. (provided by RefSeq, Jul 2008)
Gene Wiki entry for TERC (Telomerase RNA component)
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 |
Genomic Views
for TERC 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_000003.11 NC_018914.1 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
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: 3q26.2TERC Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03M169486: view genomic region
(about GC identifiers)
Start:
|
169,482,398 bp from pter |
End:
|
169,482,848 bp from pter |
Size:
|
451 bases |
Orientation:
|
minus strand |
ORGUL member locations:
Legend (see complete legend)
- n5293
- n5296
- n689
- FR0152916
- FR0237438
169482250 169482549 169482848 chr3
|
Proteins
for TERC 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: --
|
Protein
Domains /
Families
for TERC gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| -- |
Function
for TERC 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:
Genatlas biochemistry entry for TERC:telomerase RNA component,involved in telomere maintenance as template in telomeric DNA synthesis,transcriptionup-regulated by endogeneous TERT,strongly expressed in embryonic tissues (undifferentialedneuroepithelium,epithelium,mesenchymes) absent in differentiated tissues except dividing cells (testis,lymphoidfollicles,regenerative epithelia)
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TERC |
Animal Models:
Mouse knock-out Terctm1Rdp for TERC
15/22 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Terc) (see all 22):
TERC for phenotypes About GeneDecksing
|
Pathways & Interactions
for TERC 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:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TERC
|
Drugs & Compounds
for TERC 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
|
TERC for compounds About GeneDecksing
 Browse Tocris compounds for TERC
10/32 Novoseek 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 
|
Transcripts
for TERC 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
| 2 fRNAdb Secondary structures:
 
Unigene Cluster for TERC: Telomerase RNA component Hs.436182 [show with all ESTs]Unigene Representative Sequence: BC1280291 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000363312(misc_RNA)
Additional cDNA sequence: BC128029.1 1 DOTS entry: DT.70100349 6 AceView cDNA sequences: NR_001566 AW293800 AW207347 AI825849 AI380754 AW136367
GeneLoc Exon Structure
|
Expression
for TERC 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
| Expression evidence for TERC:none
TERC expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
SOURCE GeneReport for Unigene cluster: Hs.436182
SABiosciences Custom PCR Arrays for TERC
Primer
Products: |  | Browse OriGene genome-wide validated SYBR primer pairs
Browse OriGene validated miRNA SYBR primer pairs
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat TERC | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TERC | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TERC | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TERC |
Orthologs
for TERC 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 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
for TERC gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for TERC 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 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for TERC (169482398 - 169482848 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TERC
1 CNV: 5376
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: |
|
Disorders
/ Diseases
for TERC gene
(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.)
About This Section
|
TERC for disorders About GeneDecksing
OMIM gene information: 602322
OMIM disorders: 127550 609135 178500
20/101  diseases for TERC (see all 101): About MalaCardsdyskeratosis congenita aplastic anemia dyskeratosis dyskeratosis congenita autosomal dominant
hoyeraal-hreidarsson syndrome li-fraumeni syndrome anemia malignant peripheral nerve sheath tumor
cervical intraepithelial neoplasia neural tube defect pulmonary fibrosis barrett's esophagus
testicular germ cell tumor non-hodgkin lymphoma soft tissue sarcoma germ cell tumor
torch syndrome fanconi's anemia idiopathic pulmonary fibrosis urinary bladder cancer
10/94 Novoseek 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
Familial Pulmonary Fibrosis
Genetic Association Database (GAD): TERC
Human Genome Epidemiology (HuGE) Navigator: TERC (22 documents)
Export disorders for TERC gene to outside databases
|
Publications
for TERC 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 TERC gene, integrated from 9 sources (see all 498):
(articles sorted by number of sources associating them with TERC) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- 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)
- 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)
- The RNA component of human telomerase. (PubMed id 7544491)1, 3, 9 Feng J....Yu J. (1995)
- TERC is not a major gene in human neural tube defects. (PubMed id 15329831)1, 4 Benz L.P....George T.M. (2004)
- Association between aplastic anaemia and mutations in telomerase RNA. (PubMed id 12090986)1, 4 Vulliamy T....Mason P.J. (2002)
- The polymorphism of telomerase RNA component gene in patients with systemic sclerosis. (PubMed id 12174094)1, 4 Ohtsuka T....Yamazaki S. (2002)
- Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. (PubMed id 17640862)1, 9 Marrone A....Dokal I. (2007)
- Increased hTR expression during transition from adenoma to carcinoma is not associated with promoter methylation. (PubMed id 15481329)1, 9 Nakamura A....Aoyagi Y. (2004)
- Telomerase RNA mutated in autosomal dyskeratosis congenita reconstitutes a weakly active telomerase enzyme defective in telomere elongation. (PubMed id 15753647)1, 9 Cerone M.A....Autexier C. (2005)
- Telomerase-independent regulation of ATR by human telomerase RNA. (PubMed id 17098743)1, 9 Kedde M....Agami R. (2006)
|
External Searches for TERC gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TERC gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TERC gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TERC 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
|
|
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
|
Products
for TERC 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
|
 | |
 |
| | | | |
 |
 |
|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TERC | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TERC | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TERC | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TERC | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TERC | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TERC |
| |
 |  |  |  | |
| | | | Search Tocris compounds for TERC |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | TERC Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TERC |
|  |  |  | | | | Search ThermoFisher Antibodies for TERC |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat TERC |
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